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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: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: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 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"url": "https://glygen.org/publication/PubMed/30543776" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-Linked N-Acetylglucosamine Modification of Mitochondrial Antiviral Signaling Protein Regulates Antiviral Signaling by Modulating Its Activity.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Seo J, Park YS, Kweon TH, Kang J, Son S, Kim HB, Seo YR, Kang MJ, Yi EC, Lee YH, Kim JH, Park B, Yang WH, Cho JW", 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"Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "O-GlcNAc Transferase Links Glucose Metabolism to MAVS-Mediated Antiviral Innate Immunity.", "journal": "Cell host & microbe", "date": "2018", "authors": "Li T, Li X, Attri KS, Liu C, Li L, Herring LE, Asara JM, Lei YL, Singh PK, Gao C, Wen H", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30543776", "url": "https://glygen.org/publication/PubMed/30543776" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-Linked N-Acetylglucosamine Modification of Mitochondrial Antiviral Signaling Protein Regulates Antiviral Signaling by Modulating Its Activity.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Seo J, Park YS, Kweon TH, Kang J, Son S, Kim HB, Seo YR, Kang MJ, Yi EC, Lee YH, Kim JH, Park B, Yang WH, Cho JW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "33603735", "url": "https://glygen.org/publication/PubMed/33603735" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "MAVS O-GlcNAcylation Is Essential for Host Antiviral Immunity against Lethal RNA Viruses.", "journal": "Cell reports", "date": "2019", "authors": "Song N, Qi Q, Cao R, Qin B, Wang B, Wang Y, Zhao L, Li W, Du X, Liu F, Yan Y, Yi W, Jiang H, Li T, Zhou T, Li HY, Xia Q, Zhang XM, Zhong W, Li AL, Duan X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "31461653", "url": "https://glygen.org/publication/PubMed/31461653" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q7Z434", "url": 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Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q7Z434", "url": "https://www.uniprot.org/uniprotkb/Q7Z434" }, { "database": "iPTMnet", "id": "Q7Z434-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z434-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", 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Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": 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Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "40307207", 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Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "O-GlcNAc Transferase Links Glucose Metabolism to MAVS-Mediated Antiviral Innate Immunity.", "journal": "Cell host & microbe", "date": "2018", "authors": "Li T, Li X, Attri KS, Liu C, Li L, Herring LE, Asara JM, Lei YL, Singh PK, Gao C, Wen H", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30543776", "url": "https://glygen.org/publication/PubMed/30543776" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": 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Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "MAVS O-GlcNAcylation Is Essential for Host Antiviral Immunity against Lethal RNA Viruses.", "journal": "Cell reports", "date": "2019", "authors": "Song N, Qi Q, Cao R, Qin B, Wang B, Wang Y, Zhao L, Li W, Du X, Liu F, Yan Y, Yi W, Jiang H, Li T, Zhou T, Li HY, Xia Q, Zhang XM, Zhong W, Li AL, Duan X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "31461653", "url": 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Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "O-GlcNAc Transferase Links Glucose Metabolism to MAVS-Mediated Antiviral Innate Immunity.", "journal": "Cell host & microbe", "date": "2018", "authors": "Li T, Li X, Attri KS, Liu C, Li L, Herring LE, Asara JM, Lei YL, Singh PK, Gao C, Wen H", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30543776", "url": "https://glygen.org/publication/PubMed/30543776" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-Linked N-Acetylglucosamine Modification of Mitochondrial Antiviral Signaling Protein Regulates Antiviral Signaling by Modulating Its Activity.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Seo J, Park YS, Kweon TH, Kang J, Son S, Kim HB, Seo YR, Kang MJ, Yi EC, Lee YH, Kim JH, Park B, Yang WH, Cho JW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "33603735", "url": "https://glygen.org/publication/PubMed/33603735" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "MAVS O-GlcNAcylation Is Essential for Host Antiviral Immunity against Lethal RNA Viruses.", "journal": "Cell reports", "date": "2019", "authors": "Song N, Qi Q, Cao R, Qin B, Wang B, Wang Y, Zhao L, Li W, Du X, Liu F, Yan Y, Yi W, Jiang H, Li T, Zhou T, Li HY, Xia Q, Zhang XM, Zhong W, Li AL, Duan X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "31461653", "url": "https://glygen.org/publication/PubMed/31461653" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical 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"reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "O-GlcNAc Transferase Links Glucose Metabolism to MAVS-Mediated Antiviral Innate Immunity.", "journal": "Cell host & microbe", "date": "2018", "authors": "Li T, Li X, Attri KS, Liu C, Li L, Herring LE, Asara JM, Lei YL, Singh PK, Gao C, Wen H", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": 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Signaling by Modulating Its Activity.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Seo J, Park YS, Kweon TH, Kang J, Son S, Kim HB, Seo YR, Kang MJ, Yi EC, Lee YH, Kim JH, Park B, Yang WH, Cho JW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "33603735", "url": "https://glygen.org/publication/PubMed/33603735" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": 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Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "MAVS O-GlcNAcylation Is Essential for Host Antiviral Immunity against Lethal RNA Viruses.", "journal": "Cell reports", "date": "2019", "authors": "Song N, Qi Q, Cao R, Qin B, Wang B, Wang Y, Zhao L, Li W, Du X, Liu F, Yan Y, Yi W, Jiang H, Li T, Zhou T, Li HY, Xia Q, Zhang XM, Zhong W, Li AL, Duan X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "31461653", "url": "https://glygen.org/publication/PubMed/31461653" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", 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2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": 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Herring LE, Asara JM, Lei YL, Singh PK, Gao C, Wen H", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30543776", "url": "https://glygen.org/publication/PubMed/30543776" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-Linked N-Acetylglucosamine Modification of Mitochondrial Antiviral Signaling Protein Regulates Antiviral Signaling by Modulating Its Activity.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Seo J, Park YS, Kweon TH, Kang J, Son S, Kim HB, Seo YR, Kang MJ, Yi EC, Lee YH, Kim JH, Park B, Yang WH, Cho JW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "33603735", "url": "https://glygen.org/publication/PubMed/33603735" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": 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Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": 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Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z434", "url": "https://oglcnac.org/atlas/detail/Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z434", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z434" } ], "reference": [ { "type": "PubMed", "id": "40307207", 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Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q7Z434", "url": "https://www.uniprot.org/uniprotkb/Q7Z434" }, { "database": "iPTMnet", "id": "Q7Z434-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z434-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q7Z434-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z434-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { 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"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": 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"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. 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"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": 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"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": 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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": 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"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": 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"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: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: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", 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"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: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: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: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": 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"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: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: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 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"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", 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"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 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"description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"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 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}, { "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. 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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": 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1309", "end_pos": "1309" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "1943", "end_pos": "1943" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2036", "end_pos": "2036" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "632", "end_pos": "632" } ] }, { "type": "snv", "site_list": [ { "start_pos": "540", "end_pos": "540" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": 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"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", 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oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": 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"name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "619793", "database": "MIM", "url": "https://www.omim.org/entry/619793" }, { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ] } ] }, { "evidence": [ { "id": "rs2527829950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2527829950" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->X).", "chr_id": "1", "chr_pos": "156114988_156114989insGCCGGGTGCGCTGTCGC", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T24", "keywords": [ "ebi", 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Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and 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Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "A mutant O-GlcNAcase enriches Drosophila developmental regulators.", "journal": "Nature chemical biology", "date": "2017", "authors": "Selvan N, Williamson R, Mariappa D, Campbell DG, Gourlay R, Ferenbach AT, Aristotelous T, Hopkins-Navratilova I, Trost M, van Aalten DMF", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], 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progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": 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"id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "619793", "database": "MIM", "url": "https://www.omim.org/entry/619793" }, { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ] } ] }, { "evidence": [ { "id": "rs773638171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773638171" }, { "id": "rs773638171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773638171" }, { "id": "rs773638171", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773638171" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "156136363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T436", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "615", "end_pos": "615" }, { 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Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen 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"reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": 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acta", "date": "2012", "authors": "Drougat L, Olivier-Van Stichelen S, Mortuaire M, Foulquier F, Lacoste AS, Michalski JC, Lefebvre T, Vercoutter-Edouart AS", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "22967762", "url": "https://glygen.org/publication/PubMed/22967762" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "The human embryonic stem cell proteome revealed by multidimensional fractionation followed by tandem mass spectrometry.", "journal": "Proteomics", "date": "2015", "authors": "Zhao P, Schulz TC, Sherrer ES, Weatherly DB, Robins AJ, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "25367160", "url": "https://glygen.org/publication/PubMed/25367160" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko 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}, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": 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Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845" } ] }, { "title": "Oxonium Ion Guided Analysis of Quantitative Proteomics Data Reveals Site-Specific O-Glycosylation of Anterior Gradient Protein 2 (AGR2).", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Pirro M, Mohammed Y, de Ru AH, Janssen GMC, Tjokrodirijo RTN, Madunic K, Wuhrer M, van Veelen PA, Hensbergen PJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34065225", "url": "https://glygen.org/publication/PubMed/34065225" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": 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Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": 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"title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { 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June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "database": "iPTMnet", "id": 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science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": 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enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": 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June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "database": "iPTMnet", "id": 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associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": 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Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": 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CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": 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"Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", 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"Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "A mutant O-GlcNAcase enriches Drosophila developmental regulators.", "journal": "Nature chemical biology", "date": "2017", "authors": "Selvan N, Williamson R, Mariappa D, Campbell DG, Gourlay R, Ferenbach AT, Aristotelous T, Hopkins-Navratilova I, Trost M, van Aalten DMF", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "28604694", "url": "https://glygen.org/publication/PubMed/28604694" } ] }, { "title": "Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Drougat L, Olivier-Van Stichelen S, Mortuaire M, Foulquier F, Lacoste AS, Michalski JC, Lefebvre T, Vercoutter-Edouart AS", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "22967762", "url": "https://glygen.org/publication/PubMed/22967762" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "The human embryonic stem cell proteome revealed by multidimensional fractionation followed by tandem mass spectrometry.", "journal": "Proteomics", "date": "2015", "authors": "Zhao P, Schulz TC, Sherrer ES, Weatherly DB, Robins AJ, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "25367160", "url": "https://glygen.org/publication/PubMed/25367160" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": 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Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": 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"https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "Charcot-Marie-Tooth disease, axonal, type 2B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" }, { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "619793", "database": "MIM", "url": "https://www.omim.org/entry/619793" }, { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "585", "end_pos": "585" }, { 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Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": 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It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": 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"congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "619793", "database": "MIM", "url": "https://www.omim.org/entry/619793" }, { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ] } ] }, { "evidence": [ { "id": "rs398124550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398124550" }, { "id": "rs398124550", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs398124550" }, { "id": "rs398124550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398124550" }, { "id": "rs398124550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs398124550#frequency_tab" }, { "id": "rs398124550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs398124550" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "1", "chr_pos": "156138662", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S625", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "30402260", "url": "https://glygen.org/publication/PubMed/30402260" } ], "site_lbl": "Ser625" } ], "all_sites": [ 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biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": 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June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "database": "iPTMnet", "id": 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for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": 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Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": 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}, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "P02545", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P02545" } ] } ], "snv": [ { "evidence": [ { "id": "rs2528030504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2528030504" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "156138683", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S632", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "Charcot-Marie-Tooth disease, axonal, type 2B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" }, { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", 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science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": 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oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening 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Robins AJ, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "25367160", "url": "https://glygen.org/publication/PubMed/25367160" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": 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"authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": 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tandem mass spectrometry.", "journal": "Proteomics", "date": "2015", "authors": "Zhao P, Schulz TC, Sherrer ES, Weatherly DB, Robins AJ, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "25367160", "url": "https://glygen.org/publication/PubMed/25367160" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": 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"Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": 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chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": 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CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "Charcot-Marie-Tooth disease, axonal, type 2B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" }, { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": 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"date": "2006", "authors": "Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": 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chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human 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"title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": 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Simpson-Holley M, Knipe DM, Golan DE, Marto JA, Coen DM", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "19165338", "url": "https://glygen.org/publication/PubMed/19165338" } ] }, { "title": "Simian virus 40 T/t antigens and lamin A/C small interfering RNA rescue the phenotype of an Epstein-Barr virus protein kinase (BGLF4) mutant.", "journal": "Journal of virology", "date": "2010", "authors": "Meng Q, Hagemeier SR, Kuny CV, Kalejta RF, Kenney SC", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "20147387", "url": "https://glygen.org/publication/PubMed/20147387" } ] }, { "title": "Identification of the lamin A/C phosphoepitope recognized by the antibody P-STM in mitotic HeLa S3 cells.", "journal": "BMC biochemistry", "date": "2013", "authors": 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"" }, { "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": "" }, { 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{ "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. 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"url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "Charcot-Marie-Tooth disease, axonal, type 2B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" }, { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "619793", "database": "MIM", "url": "https://www.omim.org/entry/619793" }, { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprotkb/P02545" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P02545", "url": 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n-glyco-sequon-gain (SSS->NSS).", "chr_id": "1", "chr_pos": "156138501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S571", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "Charcot-Marie-Tooth disease, axonal, type 2B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" }, { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "Charcot-Marie-Tooth disease, axonal, type 2B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" }, { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "unlinked_id_list": [], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" }, { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" }, { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": 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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: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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease 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} ] }, { "title": "Irreversible dual inhibitory mode: the novel Btk inhibitor PLS-123 demonstrates promising anti-tumor activity in human B-cell lymphoma.", "journal": "Oncotarget", "date": "2015", "authors": "Ding N, Li X, Shi Y, Ping L, Wu L, Fu K, Feng L, Zheng X, Song Y, Pan Z, Zhu J", "evidence": [ { "database": "iPTMnet", "id": "Q06187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06187" } ], "reference": [ { "type": "PubMed", "id": "25944695", "url": "https://glygen.org/publication/PubMed/25944695" } ] }, { "title": "Ibrutinib synergizes with poly(ADP-ribose) glycohydrolase inhibitors to induce cell death in AML cells via a BTK-independent mechanism.", "journal": "Oncotarget", "date": "2016", "authors": "Rotin LE, Gronda M, MacLean N, Hurren R, Wang X, Lin FH, Wrana J, Datti A, Barber DL, Minden MD, Slassi M, Schimmer AD", "evidence": [ { "database": "iPTMnet", "id": "Q06187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06187" } ], 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"journal": "European journal of medicinal chemistry", "date": "2017", "authors": "Liang Q, Chen Y, Yu K, Chen C, Zhang S, Wang A, Wang W, Wu H, Liu X, Wang B, Wang L, Hu Z, Wang W, Ren T, Zhang S, Liu Q, Yun CH, Liu J", "evidence": [ { "database": "iPTMnet", "id": "Q06187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06187" } ], "reference": [ { "type": "PubMed", "id": "28315597", "url": "https://glygen.org/publication/PubMed/28315597" } ] }, { "title": "Irreversible inhibition of BTK kinase by a novel highly selective inhibitor CHMFL-BTK-11 suppresses inflammatory response in rheumatoid arthritis model.", "journal": "Scientific reports", "date": "2017", "authors": "Wu H, Huang Q, Qi Z, Chen Y, Wang A, Chen C, Liang Q, Wang J, Chen W, Dong J, Yu K, Hu C, Wang W, Liu X, Deng Y, Wang L, Wang B, Li X, Gray NS, Liu J, Wei W, Liu Q", "evidence": [ { "database": "iPTMnet", "id": "Q06187", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06187" } ], 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"2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": 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"database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": 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Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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"35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": 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"O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Higher-Energy Collisional Dissociation Mass Spectrometry Fragmentation Enables Distinguishing O-GlcNAc from Tn Antigen in Cancer Cells.", "journal": "Journal of the American Society for Mass Spectrometry", "date": "2026-01-10", "authors": "Chen Qiushi, Cheng Wangzhirui, Li Can, Fung Yi Man Eva, Wang Jiaqi, Liu Han, Li Xuechen", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "41518202", "url": "https://glygen.org/publication/PubMed/41518202" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate 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"authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": 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O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Cell-type-specific labeling and profiling of glycans in living mice.", "journal": "Nature chemical biology", "date": "2022-06", "authors": "Fan Xinqi, Song Qitao, Sun De-En, Hao Yi, Wang Jingyang, Wang Chunting, Chen Xing", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511" } ] }, { "title": "OGA mutant aberrantly hydrolyzes O-GlcNAc modification from PDLIM7 to modulate p53 and cytoskeleton in promoting cancer cell malignancy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-06-11", "authors": "Hu Chia-Wei, Wang Ao, Fan Dacheng, Worth Matthew, Chen Zhengwei, Huang Junfeng, Xie Jinshan, Macdonald John, Li Lingjun, Jiang Jiaoyang", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "crossref": [ { "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348", 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"Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": 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profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", 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"title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani 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chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": 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Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "Global profiling of 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"39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", 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"https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity 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"https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", 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"39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", 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JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated 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O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UHD9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UHD9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UHD9", "url": "https://oglcnac.org/atlas/detail/Q9UHD9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani 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"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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID: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": 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"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: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, 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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": 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{ "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", 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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). 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Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": 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Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": 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"journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": 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modification site assignment.", "journal": "Journal of proteome research", "date": "2011", "authors": "Zhao P, Viner R, Teo CF, Boons GJ, Horn D, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": 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"authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": 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Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": 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modification site assignment.", "journal": "Journal of proteome research", "date": "2011", "authors": "Zhao P, Viner R, Teo CF, Boons GJ, Horn D, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "GlcNAcylation of histone H2B 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Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": 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modification site assignment.", "journal": "Journal of proteome research", "date": "2011", "authors": "Zhao P, Viner R, Teo CF, Boons GJ, Horn D, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "GlcNAcylation of histone H2B 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"https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" }, { "database": "O-GlcNAc Atlas", "id": "P06748", "url": "https://oglcnac.org/atlas/detail/P06748" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Comparative O-GlcNAc 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"2025-12-01", "authors": "Qiu Shiyu, Ma Lifang, Yu Keke, Xu Xin, Zhang Xiao, Yu Wenjun, Wang Kai, Tian Xiaoting, Miao Yayou, Wang Yikun, Guo Wanxin, Xue Xiangfei, Cui Jiangtao, Yu Xuewen, Kang Rui, Zhou Qianjun, Yu Yongchun, Tang Daolin, Wang Jiayi", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": "40930100", "url": "https://glygen.org/publication/PubMed/40930100" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06748", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06748" } ], "reference": [ { "type": "PubMed", "id": 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K", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "16376875", "url": "https://glygen.org/publication/PubMed/16376875" } ] }, { "title": "Effects of interphase and mitotic phosphorylation on the mobility and location of nucleolar protein B23.", "journal": "Journal of cell science", "date": "2006", "authors": "Negi SS, Olson MO", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "16912078", "url": "https://glygen.org/publication/PubMed/16912078" } ] }, { "title": "Interaction between ROCK II and nucleophosmin/B23 in the regulation of centrosome duplication.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Ma Z, Kanai M, Kawamura K, Kaibuchi K, Ye K, Fukasawa K", "evidence": [ { "database": "UniProtKB", "id": "P06748", "url": "https://www.uniprot.org/uniprotkb/P06748" }, { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "17015463", "url": "https://glygen.org/publication/PubMed/17015463" } ] }, { "title": "Cyclin-dependent kinase 2/cyclin E complex is involved in p120 catenin (p120ctn)-dependent cell growth control: a new role for p120ctn in cancer.", "journal": "Cancer research", "date": "2007-10-15", "authors": "Chartier Nicolas T, Oddou Christiane I, Lain\u00e9 Mich\u00e8le G, Ducarouge Benjamin, Marie Christiane A, Block Marc R, Jacquier-Sarlin Muriel R", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "17942908", "url": "https://glygen.org/publication/PubMed/17942908" } ] }, { "title": "The nucleocapsid protein of SARS-associated coronavirus inhibits B23 phosphorylation.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Zeng Y, Ye L, Zhu S, Zheng H, Zhao P, Cai W, Su L, She Y, Wu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9692914", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9692914" }, { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "18243139", "url": "https://glygen.org/publication/PubMed/18243139" } ] }, { "title": "Recruitment of phosphorylated NPM1 to sites of DNA damage through RNF8-dependent ubiquitin conjugates.", "journal": "Cancer research", "date": "2010", "authors": "Koike A, Nishikawa H, Wu W, Okada Y, Venkitaraman AR, Ohta T", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "20713529", "url": 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"date": "2015", "authors": "Mukherjee H, Chan KP, Andresen V, Hanley ML, Gjertsen BT, Myers AG", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "25531824", "url": "https://glygen.org/publication/PubMed/25531824" } ] }, { "title": "The HBx oncoprotein of hepatitis B virus engages nucleophosmin to promote rDNA transcription and cellular proliferation.", "journal": "Biochimica et biophysica acta", "date": "2015", "authors": "Ahuja R, Kapoor NR, Kumar V", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "25918010", "url": "https://glygen.org/publication/PubMed/25918010" } ] }, { "title": "Cytoplasmic nucleophosmin has elevated T199 phosphorylation upon which G2/M phase progression is dependent.", "journal": "Scientific reports", "date": "2015", "authors": "Chan N, Lim TM", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "26123729", "url": "https://glygen.org/publication/PubMed/26123729" } ] }, { "title": "Phosphorylation of nucleophosmin at threonine 234/237 is associated with HCC metastasis.", "journal": "Oncotarget", "date": "2015", "authors": "Ching RH, Lau EY, Ling PM, Lee JM, Ma MK, Cheng BY, Lo RC, Ng IO, Lee TK", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "26536659", "url": "https://glygen.org/publication/PubMed/26536659" } ] }, { "title": "Implication of NPM1 phosphorylation and preclinical evaluation of the nucleoprotein antagonist N6L in prostate cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Destouches D, Sader M, Terry S, Marchand C, Maille P, Soyeux P, Carpentier G, Semprez F, Ceraline J, Allory Y, Courty J, De La Taille A, Vacherot F", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "26993766", "url": "https://glygen.org/publication/PubMed/26993766" } ] }, { "title": "PPM1D controls nucleolar formation by up-regulating phosphorylation of nucleophosmin.", "journal": "Scientific reports", "date": "2016", "authors": "Kozakai Y, Kamada R, Furuta J, Kiyota Y, Chuman Y, Sakaguchi K", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "27619510", "url": "https://glygen.org/publication/PubMed/27619510" } ] }, { "title": "Nucleocapsid Interacts with NPM1 and Protects it from Proteolytic Cleavage, Enhancing Cell Survival, and is Involved in PEDV Growth.", "journal": "Scientific reports", "date": "2017", "authors": "Shi D, Shi H, Sun D, Chen J, Zhang X, Wang X, Zhang J, Ji Z, Liu J, Cao L, Zhu X, Yuan J, Dong H, Wang X, Chang T, Liu Y, Feng L", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "28045037", "url": "https://glygen.org/publication/PubMed/28045037" } ] }, { "title": "Phosphoproteome Profiling Reveals Multifunctional Protein NPM1 as part of the Irradiation Response of Tumor Cells.", "journal": "Translational oncology", "date": "2019", "authors": "Wiesmann N, Gieringer R, Grus F, Brieger J", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "30453269", "url": "https://glygen.org/publication/PubMed/30453269" } ] }, { "title": "Palbociclib Promotes Dephosphorylation of NPM/B23 at Threonine 199 and Inhibits Endometrial Cancer Cell Growth.", "journal": "Cancers", "date": "2019", "authors": "Lin CY, Lee LY, Wang TH, Hsu CL, Tsai CL, Chao A, Lai CH", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "31330844", "url": "https://glygen.org/publication/PubMed/31330844" } ] }, { "title": "G protein coupled receptor kinase 5 modifies the nucleolar stress response activated by actinomycin D.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "2021-08", "authors": "Sok Vanessa, Jacinto Alec Z, Peng Natalie, Eldemerdash Mohamed, Le Lysa, Tran Philip D, Feng Li Feng, Patel Jigisha R, Gi Michael, Ammon Jane C, So Christopher H", "evidence": [ { "database": "iPTMnet", "id": "P06748", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06748" } ], "reference": [ { "type": "PubMed", "id": "33507833", "url": "https://glygen.org/publication/PubMed/33507833" } ] } 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14315", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14315" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14315", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14315" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "O-GlcNAc transferase 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proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14315", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14315" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14315", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14315" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": 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26", "description": "Cardiomyopathy, familial hypertrophic, 26" } ], "unlinked_id_list": [], "evidence": [ { "id": "617047", "database": "MIM", "url": "https://www.omim.org/entry/617047" }, { "id": "0110327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110327" } ] }, { "disease_id": "DOID:0080096", "recommended_name": { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", 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"ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201006462" }, { "id": "rs201006462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201006462#frequency_tab" }, { "id": "rs201006462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201006462" }, { "id": "rs201006462", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201006462" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (DAS->NAS).", "chr_id": "7", "chr_pos": "128843274", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D866", "disease": [ { "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: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: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:0111190", "recommended_name": { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." }, "synonyms": [ { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal muscular dystrophy 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, type 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "MPD4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, 4", "description": "" }, { "id": "MIM:614065", "resource": "MIM", "url": "https://www.omim.org/entry/614065", "name": "Myopathy, distal, 4", "description": "Myopathy, distal, 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" }, { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" } ] }, { "disease_id": "DOID:0110327", "recommended_name": { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "hypertrophic cardiomyopathy 26", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "CMH26", "description": "" }, { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "cardiomyopathy familial hypertrophic 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy 26", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "CMH26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "FLNC hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, type 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial restrictive 5", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy type 26", "description": "" }, { "id": "MIM:617047", "resource": "MIM", "url": "https://www.omim.org/entry/617047", "name": "Cardiomyopathy, familial hypertrophic, 26", "description": "Cardiomyopathy, familial hypertrophic, 26" } ], "unlinked_id_list": [], "evidence": [ { "id": "617047", "database": "MIM", "url": "https://www.omim.org/entry/617047" }, { "id": "0110327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110327" } ] }, { "disease_id": "DOID:0080096", "recommended_name": { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1633", "end_pos": "1633" }, { "start_pos": "1644", "end_pos": "1644" }, { "start_pos": "2490", "end_pos": "2490" }, { "start_pos": "407", "end_pos": "407" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1668", "end_pos": "1674" }, { "start_pos": "2669", "end_pos": "2669" } ] }, { "type": "snv", "site_list": [ { "start_pos": "866", "end_pos": "866" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1209", "end_pos": "1209" }, { "start_pos": "1225", "end_pos": "1225" }, { "start_pos": "1227", "end_pos": "1227" }, { "start_pos": "1241", "end_pos": "1241" }, { "start_pos": "1249", "end_pos": "1249" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1295", "end_pos": "1295" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": 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"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", 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. 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myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1633", "end_pos": "1633" }, { "start_pos": "1644", "end_pos": "1644" }, { "start_pos": "2490", "end_pos": "2490" }, { "start_pos": 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", 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Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1633", "end_pos": "1633" }, { "start_pos": "1644", "end_pos": "1644" }, { "start_pos": "2490", "end_pos": "2490" }, { "start_pos": 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"minor_allelic_frequency": "", "site_lbl": "R1860", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0111190", "recommended_name": { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." }, "synonyms": [ { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease 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myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1633", "end_pos": "1633" }, { "start_pos": "1644", "end_pos": "1644" }, { "start_pos": "2490", "end_pos": "2490" }, { "start_pos": 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. 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"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": 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", 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"resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal muscular dystrophy 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, type 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "MPD4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, 4", "description": "" }, { "id": "MIM:614065", "resource": "MIM", "url": "https://www.omim.org/entry/614065", "name": "Myopathy, distal, 4", "description": "Myopathy, distal, 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" }, { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" } ] }, { "disease_id": "DOID:0110327", "recommended_name": { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "hypertrophic cardiomyopathy 26", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "CMH26", "description": "" }, { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "cardiomyopathy familial hypertrophic 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy 26", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "CMH26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "FLNC hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, type 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial restrictive 5", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy type 26", "description": "" }, { "id": "MIM:617047", "resource": "MIM", "url": "https://www.omim.org/entry/617047", "name": "Cardiomyopathy, familial hypertrophic, 26", "description": "Cardiomyopathy, familial hypertrophic, 26" } ], "unlinked_id_list": [], "evidence": [ { "id": "617047", "database": "MIM", "url": "https://www.omim.org/entry/617047" }, { "id": "0110327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110327" } ] }, { "disease_id": "DOID:0080096", "recommended_name": { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1633", "end_pos": "1633" }, { "start_pos": "1644", "end_pos": "1644" }, { "start_pos": "2490", "end_pos": "2490" }, { "start_pos": 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"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: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: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: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, 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"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", 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"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", 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"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:0111190", "recommended_name": { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." }, "synonyms": [ { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal muscular dystrophy 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": 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Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", 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"" }, { "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:1319", 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"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: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: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": 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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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P0C0S8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P0C0S8" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "27837976", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E122", "disease": [ { "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: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: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": 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"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 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"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": 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"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", 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"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: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": 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"13261574", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1376", "disease": [ { "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: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: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 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"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: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: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 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"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": 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"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": 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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: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: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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID: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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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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease 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"https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). 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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, 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": 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{ "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: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: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). 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