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ophthalmology", "date": "1995", "authors": "Isashiki Y, Ohba N, Yanagita T, Hokita N, Hotta Y, Hayakawa M, Fujiki K, Tanabe U", "reference": { "type": "PubMed", "id": "7662640", "url": "https://pubmed.ncbi.nlm.nih.gov/7662640" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q00604-1", "protein_name": "Norrin", "gene_name": "NDP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q00604", "url": "https://www.uniprot.org/uniprotkb/Q00604" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7662640", "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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[] } ] }, { "title": "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "1994", "authors": "Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM", "reference": { "type": "PubMed", "id": "7993212", "url": "https://pubmed.ncbi.nlm.nih.gov/7993212" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q00604-1", "protein_name": "Norrin", "gene_name": "NDP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q00604", "url": "https://www.uniprot.org/uniprotkb/Q00604" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7993212", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.", "journal": "Nature genetics", "date": "1993", "authors": "Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW", "reference": { "type": "PubMed", "id": "8252044", "url": "https://pubmed.ncbi.nlm.nih.gov/8252044" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q00604-1", "protein_name": "Norrin", "gene_name": "NDP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q00604", "url": "https://www.uniprot.org/uniprotkb/Q00604" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8252044", "abstract": "", "glycosylation": [], "mutagenesis": [], 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"X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.", "journal": "Clinical genetics", "date": "1996", "authors": "Johnson K, Mintz-Hittner HA, Conley YP, Ferrell RE", "reference": { "type": "PubMed", "id": "8946107", "url": "https://pubmed.ncbi.nlm.nih.gov/8946107" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q00604-1", "protein_name": "Norrin", "gene_name": "NDP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q00604", "url": "https://www.uniprot.org/uniprotkb/Q00604" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8946107", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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JM, Sims KB, Keats BJ, Morton CC", "reference": { "type": "PubMed", "id": "9143918", "url": "https://pubmed.ncbi.nlm.nih.gov/9143918" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q00604-1", "protein_name": "Norrin", "gene_name": "NDP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q00604", "url": "https://www.uniprot.org/uniprotkb/Q00604" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9143918", "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": [] 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Biol. Chem.", "date": "2004", "authors": "Tomlinson Michael G, Heath Victoria L, Turck Chris W, Watson Steve P, Weiss Arthur", "reference": { "type": "PubMed", "id": "15492005", "url": "https://pubmed.ncbi.nlm.nih.gov/15492005" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P42680-1", "protein_name": "Tyrosine-protein kinase Tec", "gene_name": "TEC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P549-1", "protein_name": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2", "gene_name": "Inppl1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9ES52-1", "protein_name": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1", "gene_name": "Inpp5d", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P42680", "url": "https://www.uniprot.org/uniprotkb/P42680" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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"11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "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": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, 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: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 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"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": 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to Saethre-Chotzen syndrome.", "journal": "European journal of human genetics : EJHG", "date": "1999-01", "authors": "El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J", "reference": { "type": "PubMed", "id": "10094188", "url": "https://pubmed.ncbi.nlm.nih.gov/10094188" }, "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": "" }, { "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.10094188", "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 missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.", "journal": "Human mutation", "date": "1998", "authors": "Grigelioniene G, Hagenas L, Eklof O, Neumeyer L, Haereid PE, Anvret M", "reference": { "type": "PubMed", "id": "10215410", "url": "https://pubmed.ncbi.nlm.nih.gov/10215410" }, "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": "rs80053154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80053154" }, { "id": "rs80053154", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80053154" }, { "id": "rs80053154", "database": 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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" } ] } ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.10215410", "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 }, { 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"Achondroplasia-hypochondroplasia complex in a newborn infant.", "journal": "American journal of medical genetics", "date": "1999-06-11", "authors": "Huggins M J, Smith J R, Chun K, Ray P N, Shah J K, Whelan D T", "reference": { "type": "PubMed", "id": "10360392", "url": "https://pubmed.ncbi.nlm.nih.gov/10360392" }, "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": 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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.10360392", "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": "Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.", "journal": "American journal of medical genetics", "date": "1999-06-11", "authors": "Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D", "reference": { "type": "PubMed", "id": "10360393", "url": "https://pubmed.ncbi.nlm.nih.gov/10360393" }, "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.10360393", "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": "Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.", "journal": "American journal of medical genetics", "date": "1999", "authors": "Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR", "reference": { "type": "PubMed", "id": "10360402", "url": "https://pubmed.ncbi.nlm.nih.gov/10360402" }, "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.10360402", "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": 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"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 common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.", "journal": "Clinical genetics", "date": "1999-04", "authors": "Tsai F J, Wu J Y, Tsai C H, Chang J G", "reference": { "type": "PubMed", "id": "10361991", "url": "https://pubmed.ncbi.nlm.nih.gov/10361991" }, "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": 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{ "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.10361991", "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 missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.", "journal": "Endocrine journal", "date": "1998-12", "authors": "Fofanova O V, Takamura N, Kinoshita E, Meerson E M, Iljina V K, Nechvolodova O L, Evgrafov O V, Peterkova V A, Yamashita S", "reference": { "type": "PubMed", "id": "10395236", "url": "https://pubmed.ncbi.nlm.nih.gov/10395236" }, "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.10395236", "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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"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": "Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.", "journal": "Nature genetics", "date": "1999", "authors": "Cappellen D, De Oliveira C, Ricol D, de Medina S, Bourdin J, Sastre-Garau X, Chopin D, Thiery JP, Radvanyi F", "reference": { "type": "PubMed", "id": "10471491", "url": "https://pubmed.ncbi.nlm.nih.gov/10471491" }, "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": "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. 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: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": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, 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: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 cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "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: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": 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"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": 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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": 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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" } ], "record_id": "pubmed.11186939", "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 with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.", "journal": "Journal of medical genetics", "date": "2000-12", "authors": "Sobetzko D, Braga S, R\u00fcdeberg A, Superti-Furga A", "reference": { "type": "PubMed", "id": "11186940", "url": "https://pubmed.ncbi.nlm.nih.gov/11186940" }, "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", 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"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. 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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: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.11186940", "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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"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": 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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": 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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", 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"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": 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"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. 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.12624096", "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": "Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.", "journal": "American journal of medical genetics. Part A", "date": "2003", "authors": "Thauvin-Robinet C, Faivre L, Lewin P, De Monleon JV, Francois C, Huet F, Couailler JF, Campos-Xavier AB, Bonaventure J, Le Merrer M", "reference": { "type": "PubMed", "id": "12707965", "url": "https://pubmed.ncbi.nlm.nih.gov/12707965" }, "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": "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": "10777366", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10777366" }, { "id": "12707965", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12707965" } ], "glycoeffect": [], "start_pos": 540, "end_pos": 540, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1805643", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N540", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, 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: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": 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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.12833394", "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": "Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.", "journal": "Human genetics", "date": "2004-08", "authors": "Rannan-Eliya Sahan V, Taylor Indira B, De Heer I Marieke, Van Den Ouweland Ans M W, Wall Steven A, Wilkie Andrew O M", "reference": { "type": "PubMed", "id": "15241680", "url": "https://pubmed.ncbi.nlm.nih.gov/15241680" }, "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", "url": "https://pubmed.ncbi.nlm.nih.gov/8723106" }, { "id": "8841188", "database": 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"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": 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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": 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