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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, 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"MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", 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"description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913483" }, { "id": "rs121913483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913483" }, { "id": "rs121913483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913483#frequency_tab" }, { "id": "rs121913483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913483" }, { "id": "10471491", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10471491" }, { "id": "15772091", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15772091" }, { "id": "8589699", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8589699" }, { "id": "rs121913483", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 249, "end_pos": 249, "subjects_tested": "719", "subjects_positive": "4", "frequency": "0.6", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (6); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801841", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S249", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00011.11.000.001", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.15772091", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.", "journal": "American journal of medical genetics. Part A", "date": "2006-02-01", "authors": "Rump P, Letteboer T G W, Gille J J P, Torringa M J L, Baerts W, van Gestel J P J, Verheij J B G M, van Essen A J", "reference": { "type": "PubMed", "id": "16411219", "url": "https://pubmed.ncbi.nlm.nih.gov/16411219" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs28931614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28931614" }, { "id": "rs28931614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28931614#frequency_tab" }, { "id": "rs28931614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28931614" }, { "id": "8078586", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8078586" }, { "id": "11030304", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11030304" }, { "id": "11186939", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11186939" }, { "id": "11186940", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11186940" }, { "id": "15517832", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15517832" }, { "id": "16411219", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16411219" }, { "id": "16766665", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16766665" }, { "id": "16841094", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16841094" }, { "id": "18266238", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18266238" }, { "id": "20624921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20624921" }, { "id": "21324899", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21324899" }, { "id": "7649548", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7649548" }, { "id": "7913883", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7913883" }, { "id": "8673103", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8673103" }, { "id": "rs28931614", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28931614" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "subjects_tested": "719", "subjects_positive": "4", "frequency": "0.6", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: num. of cancers (7); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1804392", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G380", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { 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"https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "rs267606809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606809" }, { "id": "rs267606809", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606809" }, { "id": "rs267606809", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606809#frequency_tab" }, { "id": "rs267606809", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606809" }, { "id": "16411219", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16411219" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1804384", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L377", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", 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"count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Thanatophoric dysplasia type 2 with encephalocele during the second trimester.", "journal": "American journal of medical genetics. Part A", "date": "2006-07-01", "authors": "Li Dongzhi, Liao Can, Ma Xiaoyan, Li Qiuming, Tang Xuewei", "reference": { "type": "PubMed", "id": "16752380", "url": "https://pubmed.ncbi.nlm.nih.gov/16752380" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs78311289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78311289" }, { "id": "12624096", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12624096" }, { "id": "16752380", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16752380" }, { "id": "19855393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19855393" }, { "id": "7773297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7773297" }, { "id": "9207791", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, { "id": "9677066", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9677066" }, { "id": "rs78311289", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78311289" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806162", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": 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"MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": 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protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs28931614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28931614" }, { "id": "rs28931614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28931614#frequency_tab" }, { "id": "rs28931614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28931614" }, { "id": "8078586", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8078586" }, { "id": "11030304", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11030304" }, { "id": "11186939", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11186939" }, { "id": "11186940", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11186940" }, { "id": "15517832", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15517832" }, { "id": "16411219", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16411219" }, { "id": "16766665", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16766665" }, { "id": "16841094", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16841094" }, { "id": "18266238", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18266238" }, { "id": "20624921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20624921" }, { "id": "21324899", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21324899" }, { "id": "7649548", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7649548" }, { "id": "7913883", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7913883" }, { "id": "8673103", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8673103" }, { "id": "rs28931614", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28931614" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "subjects_tested": "719", "subjects_positive": "4", "frequency": "0.6", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: num. of cancers (7); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1804392", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G380", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913479" }, { "id": "rs121913479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913479#frequency_tab" }, { "id": "rs121913479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913479" }, { "id": "16841094", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16841094" }, { "id": "8845844", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8845844" }, { "id": "rs121913479", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913479" } ], "glycoeffect": [], "start_pos": 370, "end_pos": 370, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1804362", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G370", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.16841094", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.", "journal": "European journal of human genetics : EJHG", "date": "2006-12", "authors": "Heuertz Solange, Le Merrer Martine, Zabel Bernhard, Wright Michael, Legeai-Mallet Laurence, Cormier-Daire Val\u00e9rie, Gibbs Linda, Bonaventure Jacky", "reference": { "type": "PubMed", "id": "16912704", "url": "https://pubmed.ncbi.nlm.nih.gov/16912704" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121913115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913115" }, { "id": "rs121913115", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913115" }, { "id": "16912704", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16912704" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 278, "end_pos": 278, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1801928", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y278", "disease": [ { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "rs121913114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913114" }, { "id": "rs121913114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913114" }, { "id": "16912704", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16912704" }, { "id": "17895900", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17895900" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 279, "end_pos": 279, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1801930", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S279", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "rs78311289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78311289" }, { "id": "11055896", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11055896" }, { "id": "11314002", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11314002" }, { "id": "16912704", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16912704" }, { "id": "18000903", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18000903" }, { "id": "rs78311289", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78311289" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1806162", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913116" }, { "id": "rs121913116", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913116#frequency_tab" }, { "id": "16912704", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16912704" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 84, "end_pos": 84, "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1799395", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S84", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.16912704", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.", "journal": "American journal of human genetics", "date": "2006", "authors": "Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ", "reference": { "type": "PubMed", "id": "17033969", "url": "https://pubmed.ncbi.nlm.nih.gov/17033969" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913113" }, { "id": "rs121913113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913113" }, { "id": "17033969", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17033969" }, { "id": "rs121913113", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913113" } ], "glycoeffect": [], "start_pos": 621, "end_pos": 621, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806076", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R621", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.18266238", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Keegan K, Johnson DE, Williams LT, Hayman MJ", "reference": { "type": "PubMed", "id": "1847508", "url": "https://pubmed.ncbi.nlm.nih.gov/1847508" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1847508", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.", "journal": "American journal of medical genetics. Part A", "date": "2008-09-01", "authors": "Garc\u00eda-Vargas Alejandro, Hafner Christian, P\u00e9rez-Rodr\u00edguez Adriana G, Rodr\u00edguez-Rojas L Ximena, Gonz\u00e1lez-Esqueda Pedro, Stoehr Robert, Hern\u00e1ndez-Torres Mercedes, Happle Rudolf", "reference": { "type": "PubMed", "id": "18642369", "url": "https://pubmed.ncbi.nlm.nih.gov/18642369" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913482" }, { "id": "rs121913482", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913482" }, { "id": "10073901", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10073901" }, { "id": "11529856", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11529856" }, { "id": "12833394", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12833394" }, { "id": "15772091", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15772091" }, { "id": "16841094", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16841094" }, { "id": "18642369", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18642369" }, { "id": "7773297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7773297" }, { "id": "8858131", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8858131" }, { "id": "9677066", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9677066" }, { "id": "rs121913482", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913482" } ], "glycoeffect": [], "start_pos": 248, "end_pos": 248, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (8); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801837", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R248", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.18642369", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "FGFR3-related dwarfism and cell signaling.", "journal": "J. Bone Miner. Metab.", "date": "2009", "authors": "Harada Daisuke, Yamanaka Yoshitaka, Ueda Koso, Tanaka Hiroyuki, Seino Yoshiki", "reference": { "type": "PubMed", "id": "19066716", "url": "https://pubmed.ncbi.nlm.nih.gov/19066716" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19066716", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", 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{ "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.", "journal": "Clinical genetics", "date": "2009-02", "authors": "Almeida M R, Campos-Xavier A B, Medeira A, Cordeiro I, Sousa A B, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino J P, Correia A, Santos H G", "reference": { "type": "PubMed", "id": "19215249", "url": "https://pubmed.ncbi.nlm.nih.gov/19215249" }, "referenced_glycans": [], 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250, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": 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"https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.19449430", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Krejci P, Murakami S, Prochazkova J, Trantirek L, Chlebova K, Ouyang Z, Aklian A, Smutny J, Bryja V, Kozubik A, Wilcox WR", "reference": { "type": "PubMed", "id": "20439987", "url": "https://pubmed.ncbi.nlm.nih.gov/20439987" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", 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"field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Physical basis behind achondroplasia, the most common form of human dwarfism.", "journal": "The Journal of biological chemistry", "date": "2010-09-24", "authors": 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"disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.21324899", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.", "journal": "American journal of medical genetics. Part A", "date": "2011-12", "authors": "Barroso Eva, P\u00e9rez-Carrizosa Virginia, Garc\u00eda-Recuero Ignacio, Glucksman Marc J, Wilkie Andrew O, Garc\u00eda-Minaur Sixto, Heath Karen E", "reference": { "type": "PubMed", "id": "22038757", "url": "https://pubmed.ncbi.nlm.nih.gov/22038757" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs373496046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373496046" }, { "id": "rs373496046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373496046" }, { "id": "20643727", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20643727" }, { "id": "22038757", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22038757" }, { "id": "rs373496046", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373496046" } ], "glycoeffect": [], "start_pos": 334, "end_pos": 334, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1803761", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A334", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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Kanngurn S, Karnchanawanichkul W, Pripatnanont C, Sangkhathat S, Thongsuksai P", "reference": { "type": "PubMed", "id": "23991606", "url": "https://pubmed.ncbi.nlm.nih.gov/23991606" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23991606", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805661", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T546", "disease": [ { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). 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The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": 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"journal": "The Journal of biological chemistry", "date": "2014", "authors": "Singh P, Thomas GE, Gireesh KK, Manna TK", "reference": { "type": "PubMed", "id": "25246530", "url": "https://pubmed.ncbi.nlm.nih.gov/25246530" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25246530", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", 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Sensitivity and resistance to targeted therapies.", "journal": "Cancer communications (London, England)", "date": "2024-10", "authors": "Noeraparast Maxim, Krajina Katarina, Pichler Renate, Nieders\u00fc\u00df-Beke Dora, Shariat Shahrokh F, Gr\u00fcnwald Viktor, Ahyai Sascha, Pichler Martin", "reference": { "type": "PubMed", "id": "39161208", "url": "https://pubmed.ncbi.nlm.nih.gov/39161208" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39161208", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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"uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28933068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28933068#frequency_tab" }, { "id": "rs28933068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28933068" }, { "id": "10360392", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360392" }, { "id": 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"N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.4697848", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.", "journal": "Nature genetics", "date": "1995", "authors": "Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW", "reference": { "type": "PubMed", "id": "7493034", "url": "https://pubmed.ncbi.nlm.nih.gov/7493034" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28931615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28931615" }, { "id": "rs28931615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28931615#frequency_tab" }, { "id": "rs28931615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28931615" }, { "id": "17935505", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17935505" }, { "id": "7493034", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7493034" }, { "id": "rs28931615", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28931615" } ], "glycoeffect": [], "start_pos": 391, "end_pos": 391, "sequence_org": "A", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1804426", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A391", "disease": [ { "disease_id": "DOID:0111161", 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "rs75790268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75790268" }, { "id": "rs75790268", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs75790268" }, { "id": "10587515", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10587515" }, { "id": "7649548", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7649548" }, { "id": "7758520", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7758520" }, { "id": "8599370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8599370" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1804377", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", 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"https://pubmed.ncbi.nlm.nih.gov/10395236" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.7670477", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.", "journal": "European journal of pediatrics", "date": "1995", "authors": "Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, Steinmann B", "reference": { "type": "PubMed", "id": "7758520", "url": "https://pubmed.ncbi.nlm.nih.gov/7758520" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs75790268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75790268" }, { "id": "rs75790268", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs75790268" }, { "id": "10587515", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10587515" }, { "id": "7649548", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7649548" }, { "id": "7758520", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7758520" }, { "id": "8599370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8599370" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1804377", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.7758520", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Achondroplasia is defined by recurrent G380R mutations of FGFR3.", "journal": "American journal of human genetics", "date": "1995", "authors": "Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA", "reference": { "type": "PubMed", "id": "7847369", "url": 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protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.7913883", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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}, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.8078586", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A common FGFR3 gene mutation in hypochondroplasia.", "journal": "Human molecular genetics", "date": "1995-11", "authors": "Prinos P, Costa T, Sommer A, Kilpatrick M W, Tsipouras P", "reference": { "type": "PubMed", "id": "8589686", "url": "https://pubmed.ncbi.nlm.nih.gov/8589686" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28933068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28933068#frequency_tab" }, { "id": "rs28933068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28933068" }, { "id": "10360392", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360392" }, { "id": "10360393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360393" }, { "id": "19449430", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19449430" }, { "id": "4697848", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/4697848" }, { "id": "7670477", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7670477" }, { "id": "8589686", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8589686" }, { "id": "9450868", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9450868" }, { "id": "9672519", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9672519" }, { "id": "9842995", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9842995" }, { "id": "10361991", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10361991" }, { "id": "10395236", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10395236" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.8673103", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": 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"name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": 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nucleotide 742 of the fibroblast growth factor receptor 3 gene.", "journal": "Biochemical and biophysical research communications", "date": "1996-10-03", "authors": "Pokharel R K, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, Onishi S, Matsuo M", "reference": { "type": "PubMed", "id": "8858131", "url": "https://pubmed.ncbi.nlm.nih.gov/8858131" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913482", "database": 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": 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craniosynostosis syndrome.", "journal": "American journal of human genetics", "date": "1997", "authors": "Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al.", "reference": { "type": "PubMed", "id": "9042914", "url": "https://pubmed.ncbi.nlm.nih.gov/9042914" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": 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"url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": 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craniosynostosis.", "journal": "Lancet (London, England)", "date": "1997-04-12", "authors": "Moloney D M, Wall S A, Ashworth G J, Oldridge M, Glass I A, Francomano C A, Muenke M, Wilkie A O", "reference": { "type": "PubMed", "id": "9107244", "url": "https://pubmed.ncbi.nlm.nih.gov/9107244" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs4647924", "database": "dbSNP", "url": 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bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": 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expression and activating mutations of fibroblast growth factor receptor 3.", "journal": "Nature genetics", "date": "1997", "authors": "Chesi M, Nardini E, Brents LA, Schrock E, Ried T, Kuehl WM, Bergsagel PL", "reference": { "type": "PubMed", "id": "9207791", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs78311289", "database": "dbSNP", "url": 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"glycoeffect": [], "start_pos": 650, "end_pos": 650, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806162", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", 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"description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913105" }, { "id": "rs121913105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913105#frequency_tab" }, { "id": "rs121913105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913105" }, { "id": "10053006", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10053006" }, { "id": "10671061", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10671061" }, { "id": "18076102", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18076102" }, { "id": "9207791", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, { "id": "rs121913105", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913105" }, { "id": "rs1448029825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448029825" }, { "id": "rs1448029825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448029825" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "subjects_tested": "1906", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "K", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806163", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 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"subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": 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"authors": "Wilkie A O", "reference": { "type": "PubMed", "id": "9300656", "url": "https://pubmed.ncbi.nlm.nih.gov/9300656" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs4647924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4647924" }, { "id": "rs4647924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs4647924#frequency_tab" }, { "id": "rs4647924", "database": "gnomAD", 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"database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4647924" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": 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"American journal of medical genetics", "date": "1998-01-06", "authors": "Prinster C, Carrera P, Del Maschio M, Weber G, Maghnie M, Vigone M C, Mora S, Tonini G, Rigon F, Beluffi G, Severi F, Chiumello G, Ferrari M", "reference": { "type": "PubMed", "id": "9450868", "url": "https://pubmed.ncbi.nlm.nih.gov/9450868" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28933068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28933068#frequency_tab" }, { "id": "rs28933068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28933068" }, { "id": "10360392", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360392" }, { "id": "10360393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360393" }, { "id": "19449430", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19449430" }, { "id": "4697848", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/4697848" }, { "id": "7670477", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7670477" }, { "id": "8589686", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8589686" }, { "id": "9450868", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9450868" }, { "id": "9672519", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9672519" }, { "id": "9842995", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9842995" }, { "id": "10361991", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10361991" }, { "id": "10395236", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10395236" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.9450868", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.", "journal": "Human mutation", "date": "1998", "authors": "Deutz-Terlouw PP, Losekoot M, Aalfs CM, Hennekam RC, Bakker E", "reference": { "type": "PubMed", "id": "9452043", "url": "https://pubmed.ncbi.nlm.nih.gov/9452043" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs77722678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77722678" }, { "id": "rs77722678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77722678" }, { "id": "rs77722678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs77722678#frequency_tab" }, { "id": "rs77722678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs77722678" }, { "id": "9452043", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9452043" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805643", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.9452043", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", 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"url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": 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[] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.", "journal": "The Journal of pediatrics", "date": "1998-04", "authors": "Gripp K W, McDonald-McGinn D M, Gaudenz K, Whitaker L A, Bartlett S P, Glat P M, Cassileth L B, Mayro R, Zackai E H, Muenke M", "reference": { "type": "PubMed", "id": "9580776", "url": "https://pubmed.ncbi.nlm.nih.gov/9580776" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs4647924", "database": "dbSNP", "url": 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"database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9843059" }, { "id": "9950359", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9950359" }, { "id": "rs4647924", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4647924" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": 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[] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.", "journal": "American journal of human genetics", "date": "1998", "authors": "Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW", "reference": { "type": "PubMed", "id": "9585583", "url": "https://pubmed.ncbi.nlm.nih.gov/9585583" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": 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"https://pubmed.ncbi.nlm.nih.gov/9585583" }, { "id": "9600744", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9600744" }, { "id": "9843059", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9843059" }, { "id": "9950359", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9950359" }, { "id": "rs4647924", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4647924" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.9585583", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.", "journal": "American journal of medical genetics", "date": "1998-05-26", "authors": "Graham J M, Braddock S R, Mortier G R, Lachman R, Van Dop C, Jabs E W", "reference": { "type": "PubMed", "id": "9600744", "url": "https://pubmed.ncbi.nlm.nih.gov/9600744" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs4647924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4647924" }, { "id": "rs4647924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs4647924#frequency_tab" }, { "id": "rs4647924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs4647924" }, { "id": "10094188", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10094188" }, { "id": "11424131", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11424131" }, { "id": "11746040", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11746040" }, { "id": "14613973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14613973" }, { "id": "15241680", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15241680" }, { "id": "19215249", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19215249" }, { "id": "25271085", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25271085" }, { "id": "8723106", "database": "PubMed", 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"database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9843059" }, { "id": "9950359", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9950359" }, { "id": "rs4647924", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4647924" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.9600744", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": 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[] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genotype and phenotype in hypochondroplasia.", "journal": "The Journal of pediatrics", "date": "1998-07", "authors": "Ramaswami U, Rumsby G, Hindmarsh P C, Brook C G", "reference": { "type": "PubMed", "id": "9672519", "url": "https://pubmed.ncbi.nlm.nih.gov/9672519" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28933068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28933068#frequency_tab" }, { "id": "rs28933068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28933068" }, { "id": "10360392", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360392" }, { "id": "10360393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360393" }, { "id": "19449430", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19449430" }, { "id": "4697848", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/4697848" }, { "id": "7670477", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7670477" }, { "id": "8589686", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8589686" }, { "id": "9450868", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9450868" }, { "id": "9672519", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9672519" }, { "id": "9842995", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9842995" }, { "id": "10361991", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10361991" }, { "id": "10395236", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10395236" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, 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"MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", 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"description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs78311289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78311289" }, { "id": "12624096", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12624096" }, { "id": "16752380", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16752380" }, { "id": "19855393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19855393" }, { "id": "7773297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7773297" }, { "id": "9207791", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, { "id": "9677066", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9677066" }, { "id": "rs78311289", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78311289" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806162", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.9677066", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.", "journal": "Endocrine journal", "date": "1998", "authors": "Katsumata N, Kuno T, Miyazaki S, Mikami S, Nagashima-Miyokawa A, Nimura A, Horikawa R, Tanaka T", "reference": { "type": "PubMed", "id": "9790257", "url": "https://pubmed.ncbi.nlm.nih.gov/9790257" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9790257", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.", "journal": "Clinical genetics", "date": "1998-11", "authors": "Angle B, Hersh J H, Christensen K M", "reference": { "type": "PubMed", "id": "9842995", "url": "https://pubmed.ncbi.nlm.nih.gov/9842995" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28933068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933068" }, { "id": "rs28933068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28933068#frequency_tab" }, { "id": "rs28933068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28933068" }, { "id": "10360392", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360392" }, { "id": "10360393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10360393" }, { "id": "19449430", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19449430" }, { "id": "4697848", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/4697848" }, { "id": "7670477", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7670477" }, { "id": "8589686", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8589686" }, { "id": "9450868", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9450868" }, { "id": "9672519", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9672519" }, { "id": "9842995", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9842995" }, { "id": "10361991", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10361991" }, { "id": "10395236", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10395236" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1805644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "150250", "database": "MIM", "url": "https://www.omim.org/entry/150250" }, { "id": "14764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.9842995", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Thanatophoric dysplasia type I with syndactyly.", "journal": "American journal of medical genetics", "date": "1998-11-16", "authors": "Brodie S G, Kitoh H, Lipson M, Sifry-Platt M, Wilcox W R", "reference": { "type": "PubMed", "id": "9843049", "url": "https://pubmed.ncbi.nlm.nih.gov/9843049" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22607", "url": "https://www.uniprot.org/uniprotkb/P22607" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913485" }, { "id": "rs121913485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913485" }, { "id": "8845844", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8845844" }, { "id": "9843049", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9843049" }, { "id": "rs121913485", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913485" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 373, "end_pos": 373, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1804372", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y373", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A protein tyrosine kinase in the interferon alpha/beta signaling pathway.", "journal": "Cell", "date": "1992", "authors": "Velazquez L, Fellous M, Stark GR, Pellegrini S", "reference": { "type": "PubMed", "id": "1386289", "url": "https://pubmed.ncbi.nlm.nih.gov/1386289" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29597-1", "protein_name": "Non-receptor tyrosine-protein kinase TYK2", "gene_name": "TYK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29597", "url": "https://www.uniprot.org/uniprotkb/P29597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1386289", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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Akihiro, Sakiyama Yukio, Iwata Tsutomu, Bessho Fumio, Ohishi Tsutomu, Joh Kosuke, Imai Kohsuke, Kogawa Kazuhiro, Shinohara Miwa, Fujieda Mikiya, Wakiguchi Hiroshi, Pasic Srdjan, Abinun Mario, Ochs Hans D, Renner Eleonore D, Jansson Annette, Belohradsky Bernd H, Metin Ayse, Shimizu Norio, Mizutani Shuki, Miyawaki Toshio, Nonoyama Shigeaki, Karasuyama Hajime", "reference": { "type": "PubMed", "id": "17088085", "url": "https://pubmed.ncbi.nlm.nih.gov/17088085" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29597-1", "protein_name": "Non-receptor tyrosine-protein kinase TYK2", "gene_name": "TYK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29597", "url": "https://www.uniprot.org/uniprotkb/P29597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17088085", "abstract": "", "glycosylation": [], 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