{ "uniprot_canonical_ac": "Q62986-1", "uniprot_ac": "Q62986", "uniprot_id": "ESR2_RAT", "mass": { "chemical_mass": 59152.0, "monoisotopic_mass": 59152.0 }, "refseq": { "ac": "NP_036886", "name": "estrogen receptor beta", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" }, "gene_names": [ { "name": "Esr2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q62986", "id": "Q62986" }, { "name": "ER-beta; Erb2; ERbeta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886", "id": "NP_036886" }, { "name": "Erbeta", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q62986", "id": "Q62986" }, { "name": "Esr2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886", "id": "NP_036886" }, { "name": "Nr3a2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q62986", "id": "Q62986" } ], "protein_names": [ { "name": "Estrogen receptor beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q62986" }, { "name": "ER-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q62986" }, { "name": "Nuclear receptor subfamily 3 group A member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q62986" }, { "name": "estrogen receptor beta isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006240283", "id": "XP_006240283" }, { "name": "estrogen receptor beta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886", "id": "NP_036886" }, { "name": "nuclear receptor subfamily 3 group A member 2; estrogen receptor 2 beta; estrogen receptor 2 (ER beta)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886", "id": "NP_036886" } ], "function": [ { "annotation": "Absolute Quantification of Phosphorylated ERbeta Amino Acids in the Hippocampus of Women and in A Rat Model of Menopause.", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" }, { "database": "PubMed", "id": "34147032", "url": "https://glygen.org/publication/PubMed/34147032" } ] }, { "annotation": "ERbeta Regulation of Gonadotropin Responses during Folliculogenesis. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" }, { "database": "PubMed", "id": "34638689", "url": "https://glygen.org/publication/PubMed/34638689" } ] }, { "annotation": "Effects of dietary active soybean trypsin inhibitors on pancreatic weights, histology and expression of STAT3 and receptors for androgen and estrogen in different tissues of rats.", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" }, { "database": "PubMed", "id": "34125331", "url": "https://glygen.org/publication/PubMed/34125331" } ] }, { "annotation": "Impact of pubertal onset on region-specific Esr2 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" }, { "database": "PubMed", "id": "34463394", "url": "https://glygen.org/publication/PubMed/34463394" } ] }, { "annotation": "Lacks ligand binding affinity and suppresses ESR1/ER-alpha and ESR2 isoform 1/ER-beta1 mediated transcriptional activation and may act as a dominant negative regulator of estrogen action.", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986#function" }, { "database": "PubMed", "id": "9600083", "url": "https://glygen.org/publication/PubMed/9600083" } ] }, { "annotation": "Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner.", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986#function" }, { "database": "PubMed", "id": "9600083", "url": "https://glygen.org/publication/PubMed/9600083" }, { "database": "PubMed", "id": "8650195", "url": "https://glygen.org/publication/PubMed/8650195" }, { "database": "UniProtKB", "id": "Q92731", "url": "https://www.uniprot.org/uniprot/Q92731#function" } ] }, { "annotation": "Sex-specific effects of 17beta-estradiol and dihydrotestosterone (DHT) on growth plate chondrocytes are dependent on both ERalpha and ERbeta and require palmitoylation to translocate the receptors to the plasma membrane.", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" }, { "database": "PubMed", "id": "34416391", "url": "https://glygen.org/publication/PubMed/34416391" } ] }, { "annotation": "Unable to bind DNA and activate transcription due to the truncation of the DNA binding domain.", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986#function" }, { "database": "PubMed", "id": "9492041", "url": "https://glygen.org/publication/PubMed/9492041" } ] } ], "disease": [ { "disease_id": "DOID:0050589", "recommended_name": { "id": "DOID:0050589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract." }, "synonyms": [ { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "IBD1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "NOD2 inflammatory bowel disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "crohn disease-associated growth failure", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1, Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease caused by mutation in NOD2", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease type 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease-associated Growth failure, susceptibility to", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease (Crohn disease) 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "paediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "pediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "regional enteritis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, paediatric", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, pediatric", "description": "" }, { "id": "MIM:266600", "resource": "MIM", "url": "https://www.omim.org/entry/266600", "name": "Inflammatory bowel disease 1", "description": "Inflammatory bowel disease 1" } ], "evidence": [ { "id": "0050589", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ] }, { "disease_id": "DOID:0060180", "recommended_name": { "id": "DOID:0060180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon." }, "synonyms": [], "evidence": [ { "id": "0060180", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ] }, { "disease_id": "DOID:0080500", "recommended_name": { "id": "DOID:0080500", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080500", "name": "ovarian dysgenesis 8", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23." }, "synonyms": [ { "id": "MONDO:0032590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032590", "name": "ovarian dysgenesis 8", "description": "" }, { "id": "MONDO:0032590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032590", "name": "ODG8", "description": "" }, { "id": "MONDO:0032590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032590", "name": "OVARIAN DYSGENESIS 8", "description": "" }, { "id": "MIM:618187", "resource": "MIM", "url": "https://www.omim.org/entry/618187", "name": "Ovarian dysgenesis 8", "description": "Ovarian dysgenesis 8" } ], "evidence": [ { "id": "0080500", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080500" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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: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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "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:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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: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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "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": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10591", "recommended_name": { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." }, "synonyms": [ { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "gestational hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "hypertension induced by pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclamptic toxaemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia/eclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy associated hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy toxemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "proteinuric hypertension of pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "Preeclampsia/eclampsia type 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "STOX1 preeclampsia", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia caused by mutation in STOX1", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PEE4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PREECLAMPSIA/eclampsia 4", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "preeclampsia/eclampsia 3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PEE3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PREECLAMPSIA/eclampsia 3", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "preeclampsia/eclampsia 2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PEE2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PREECLAMPSIA/eclampsia 2", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "preeclampsia/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PEE1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREECLAMPSIA/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREG1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hemolysis, elevated liver enzymes, and low platelet count", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hypertension, pregnancy-induced", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:609404", "resource": "MIM", "url": "https://www.omim.org/entry/609404", "name": "Pre-eclampsia/eclampsia 4", "description": "Pre-eclampsia/eclampsia 4" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "evidence": [ { "id": "10591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "obsolete glaucoma 1, open angle, E", "description": "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:10892", "recommended_name": { "id": "DOID:10892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum." }, "synonyms": [ { "id": "DOID:10892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "name": "familial hypospadias", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal, multifactorial", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "HYSP3", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "hypospadias 4, X-linked", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "HYSP4", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "hypospadias 4, X-linked, susceptibility to", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "HYSP2", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "HYSP1", "description": "" }, { "id": "MIM:300758", "resource": "MIM", "url": "https://www.omim.org/entry/300758", "name": "Hypospadias 2, X-linked", "description": "Hypospadias 2, X-linked" }, { "id": "MIM:300633", "resource": "MIM", "url": "https://www.omim.org/entry/300633", "name": "Hypospadias 1, X-linked", "description": "Hypospadias 1, X-linked" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "fracture, hip, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, involutional", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "evidence": [ { "id": "11476", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] }, { "disease_id": "DOID:12361", "recommended_name": { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." }, "synonyms": [ { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Grave's disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "exophthalmic goiter", "description": "" } ], "evidence": [ { "id": "12361", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:1596", "recommended_name": { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function." }, "synonyms": [ { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "mental depression", "description": "" } ], "evidence": [ { "id": "1596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1679", "recommended_name": { "id": "DOID:1679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder." }, "synonyms": [], "evidence": [ { "id": "1679", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ] }, { "disease_id": "DOID:1712", "recommended_name": { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening." }, "synonyms": [ { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "Aortic stenosis", "description": "" }, { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "Rheumatic aortic stenosis", "description": "" }, { "id": "DOID:1712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1712", "name": "rheumatic aortic valve stenosis", "description": "" } ], "evidence": [ { "id": "1712", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ] }, { "disease_id": "DOID:1909", "recommended_name": { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." }, "synonyms": [ { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "Naevocarcinoma", "description": "" }, { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "malignant melanoma", "description": "" } ], "evidence": [ { "id": "1909", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ] }, { "disease_id": "DOID:2030", "recommended_name": { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations." }, "synonyms": [ { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety", "description": "" }, { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety state", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety-related personality traits", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "harm avoidance", "description": "" } ], "evidence": [ { "id": "2030", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ] }, { "disease_id": "DOID:219", "recommended_name": { "id": "DOID:219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon." }, "synonyms": [], "evidence": [ { "id": "219", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:219" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:2316", "recommended_name": { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand." }, "synonyms": [ { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischaemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "cerebral ischemia", "description": "" } ], "evidence": [ { "id": "2316", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:437", "recommended_name": { "id": "DOID:437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath." }, "synonyms": [ { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "myasthenia gravis", "description": "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "acquired myasthenia", "description": "" }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "autoimmune myasthenia gravis", "description": "" }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "myasthenia gravis", "description": "" }, { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "MG", "description": "" } ], "evidence": [ { "id": "437", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:437" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:657", "recommended_name": { "id": "DOID:657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." }, "synonyms": [ { "id": "DOID:657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:657", "name": "acinar cell adenoma", "description": "" }, { "id": "DOID:657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:657", "name": "acinic cell adenoma", "description": "" }, { "id": "DOID:657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:657", "name": "adenomas", "description": "" } ], "evidence": [ { "id": "657", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:657" } ] }, { "disease_id": "DOID:7148", "recommended_name": { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." }, "synonyms": [ { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "Arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "atrophic Arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "atrophic arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "RA", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis, rheumatoid", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "autoimmune arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, progression of", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, susceptibility to", "description": "" }, { "id": "MIM:180300", "resource": "MIM", "url": "https://www.omim.org/entry/180300", "name": "Rheumatoid arthritis", "description": "Rheumatoid arthritis" } ], "evidence": [ { "id": "7148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ] }, { "disease_id": "DOID:8283", "recommended_name": { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output." }, "synonyms": [ { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "Retractile mesenteritis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "acute generalized peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "primary bacterial peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "sclerosing mesenteritis", "description": "" } ], "evidence": [ { "id": "8283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "evidence": [ { "id": "8398", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] }, { "disease_id": "DOID:8577", "recommended_name": { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." }, "synonyms": [ { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "Left-sided ulcerative colitis", "description": "" } ], "evidence": [ { "id": "8577", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ] }, { "disease_id": "DOID:8634", "recommended_name": { "id": "DOID:8634", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate." }, "synonyms": [ { "id": "DOID:8634", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8634", "name": "PIN III", "description": "" }, { "id": "DOID:8634", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8634", "name": "carcinoma in situ of prostate", "description": "" }, { "id": "DOID:8634", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8634", "name": "grade III PIN", "description": "" } ], "evidence": [ { "id": "8634", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ] }, { "disease_id": "DOID:8719", "recommended_name": { "id": "DOID:8719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues." }, "synonyms": [], "evidence": [ { "id": "8719", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "evidence": [ { "id": "8778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:987", "recommended_name": { "id": "DOID:987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body." }, "synonyms": [ { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalised", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalized", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "ALUNC", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "AU", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia areata universalis", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis", "description": "" }, { "id": "MIM:203655", "resource": "MIM", "url": "https://www.omim.org/entry/203655", "name": "Alopecia universalis congenita", "description": "Alopecia universalis congenita" } ], "evidence": [ { "id": "987", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:987" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "common_name": "Rat" } ], "gene": [ { "name": "Esr2", "url": "https://www.uniprot.org/uniprot/Q62986", "locus": { "chromosome": "6", "start_pos": 94809547, "end_pos": 94908919, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000005343", "url": "https://www.ensembl.org/id/ENSRNOG00000005343" } ] } } ], "crossref": [ { "id": "ENSRNOG00000005343", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000005343", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd06949", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06949", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07171", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07171", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3021", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3021", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "25149", "url": "https://www.ncbi.nlm.nih.gov/gene/25149", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q62986", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q62986*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000536", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000536", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001628", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001628", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001723", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001723", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021064", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021064", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024178", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024178", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028355", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028355", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:25149", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:25149", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RHRNSED", "url": "https://omabrowser.org/oma/group/RHRNSED/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5387678at2759", "url": "http://www.orthodb.org/?query=5387678at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48092", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48092", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48092:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48092:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1HJ1", "url": "https://www.rcsb.org/structure/1HJ1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QKN", "url": "https://www.rcsb.org/structure/1QKN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2J7X", "url": "https://www.rcsb.org/structure/2J7X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2J7Y", "url": "https://www.rcsb.org/structure/2J7Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12497", "url": "http://pfam.xfam.org/family/PF12497", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q62986", "url": "http://purl.obolibrary.org/obo/PR_Q62986", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1257604", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-383280", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6811558", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8939211", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8939211", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9009391", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9009391", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "2582", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=2582", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "D3ZQD5", "url": "https://www.uniprot.org/uniprot/D3ZQD5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZQD5-1", "url": "https://www.uniprot.org/uniprot/D3ZQD5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4AEI3", "url": "https://www.uniprot.org/uniprot/D4AEI3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4AEI3-1", "url": "https://www.uniprot.org/uniprot/D4AEI3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q59IV8", "url": "https://www.uniprot.org/uniprot/Q59IV8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q59IV8-1", "url": "https://www.uniprot.org/uniprot/Q59IV8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q59IV9", "url": "https://www.uniprot.org/uniprot/Q59IV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q59IV9-1", "url": "https://www.uniprot.org/uniprot/Q59IV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q62986-1", "url": "https://www.uniprot.org/uniprot/Q62986-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q62986-2", "url": "https://www.uniprot.org/uniprot/Q62986-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q62986-3", "url": "https://www.uniprot.org/uniprot/Q62986-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q62986-4", "url": "https://www.uniprot.org/uniprot/Q62986-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q62986-5", "url": "https://www.uniprot.org/uniprot/Q62986-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRLSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCPVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 530, "header": "sp|Q62986-1|ESR2_RAT Isoform 1 of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=1 SV=2 CANONICAL=Q62986-1" }, "isoforms": [ { "isoform_ac": "D3ZQD5-1", "url": "", "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRQSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 430, "header": "tr|D3ZQD5-1|D3ZQD5_RAT Computationally mapped isoform of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=3 SV=3 CANONICAL=Q62986-1" }, "locus": { "chromosome": "6", "start_pos": 94899524, "end_pos": 94859576, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000041872.5", "url": "https://www.ensembl.org/id/ENSRNOT00000041872.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000041339.4", "url": "https://www.ensembl.org/id/ENSRNOP00000041339.4" } ] } }, { "isoform_ac": "D4AEI3-1", "url": "", "sequence": { "sequence": "MSICTSSHKEFSQLRPSEDMEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRQSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 510, "header": "tr|D4AEI3-1|D4AEI3_RAT Computationally mapped isoform of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=3 SV=3 CANONICAL=Q62986-1" }, "locus": { "chromosome": "6", "start_pos": 94899581, "end_pos": 94859576, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000007109.6", "url": "https://www.ensembl.org/id/ENSRNOT00000007109.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000007109.6", "url": "https://www.ensembl.org/id/ENSRNOP00000007109.6" } ] } }, { "isoform_ac": "Q59IV8-1", "url": "", "sequence": { "sequence": "MSICTSSHKEFSQLRPSEDMEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRQSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRSSEDPHWHVAQMKSAAPRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 567, "header": "tr|Q59IV8-1|Q59IV8_RAT Computationally mapped isoform of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=3 SV=1 CANONICAL=Q62986-1" }, "locus": { "chromosome": "6", "start_pos": 94899581, "end_pos": 94859576, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000043602.6", "url": "https://www.ensembl.org/id/ENSRNOT00000043602.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000043144.5", "url": "https://www.ensembl.org/id/ENSRNOP00000043144.5" } ] } }, { "isoform_ac": "Q59IV9-1", "url": "", "sequence": { "sequence": "MSICTSSHKEFSQLRPSEDMEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRQSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 549, "header": "tr|Q59IV9-1|Q59IV9_RAT Computationally mapped isoform of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=3 SV=1 CANONICAL=Q62986-1" }, "locus": { "chromosome": "6", "start_pos": 94899581, "end_pos": 94859576, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000042682.5", "url": "https://www.ensembl.org/id/ENSRNOT00000042682.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000040505.4", "url": "https://www.ensembl.org/id/ENSRNOP00000040505.4" } ] } }, { "isoform_ac": "Q62986-1", "url": "", "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRLSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCPVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 530, "header": "sp|Q62986-1|ESR2_RAT Isoform 1 of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=1 SV=2 CANONICAL=Q62986-1" }, "locus": {} }, { "isoform_ac": "Q62986-2", "url": "", "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRLSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCPVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRSSEDPHWHVAQMKSAAPRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 548, "header": "sp|Q62986-2|ESR2_RAT Isoform 2 of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=1 SV=2 CANONICAL=Q62986-1" }, "locus": {} }, { "isoform_ac": "Q62986-3", "url": "", "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRLSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCPVCSDYASGYHYGVWSCEGCKAFFKRSIQGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 491, "header": "sp|Q62986-3|ESR2_RAT Isoform 3 of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=1 SV=2 CANONICAL=Q62986-1" }, "locus": {} }, { "isoform_ac": "Q62986-4", "url": "", "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRLSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCPVCSDYASGYHYGVWSCEGCKAFFKRSIQGSRRERCGYRIVRRQRSSSEQVHCLSKAKRNGGHAPRVKELLLSTLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRSSEDPHWHVAQMKSAAPRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 509, "header": "sp|Q62986-4|ESR2_RAT Isoform 4 of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=1 SV=2 CANONICAL=Q62986-1" }, "locus": {} }, { "isoform_ac": "Q62986-5", "url": "", "sequence": { "sequence": "MEIKNSPSSLSSPASYNCSQSILPLEHGPIYIPSSYVDNRHEYSAMTFYSPAVMNYSVPGSTSNLDGGPVRLSTSPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLSGSSCASPVTSPNAKRDAHFCPVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECSSTEDSKNKESSQNLQSQ", "length": 430, "header": "sp|Q62986-5|ESR2_RAT Isoform 5 of Estrogen receptor beta OS=Rattus norvegicus OX=10116 GN=Esr2 PE=1 SV=2 CANONICAL=Q62986-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine; alternate O-GlcNAcylation", "start_pos": 61, "start_aa": "Ser", "end_pos": 61, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser61", "evidence": [ { "id": "Q62986", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62986#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 105, "end_pos": 105, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "site_lbl": "Ser105" }, { "start_pos": 61, "end_pos": 61, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; alternate", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "site_lbl": "Ser61" }, { "start_pos": 87, "end_pos": 87, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "site_lbl": "Ser87" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The activating enzyme of NEDD8 inhibits steroid receptor function.", "journal": "Mol. Endocrinol.", "date": "2002", "authors": "Fan M, Long X, Bailey JA, Reed CA, Osborne E, Gize EA, Kirk EA, Bigsby RM, Nephew KP", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "reference": [ { "type": "PubMed", "id": "11818503", "url": "https://glygen.org/publication/PubMed/11818503" } ] }, { "title": "Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia.", "journal": "Hum. Mol. Genet.", "date": "2009", "authors": "Massinen S, Tammimies K, Tapia-Paez I, Matsson H, Hokkanen ME, Soderberg O, Landegren U, Castren E, Gustafsson JA, Treuter E, Kere J", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "reference": [ { "type": "PubMed", "id": "19423554", "url": "https://glygen.org/publication/PubMed/19423554" } ] }, { "title": "Effects of dietary active soybean trypsin inhibitors on pancreatic weights, histology and expression of STAT3 and receptors for androgen and estrogen in different tissues of rats.", "journal": "Molecular biology reports", "date": "2021", "authors": "Xiao CW, Wood C, Cunningham LA, Lalande M, Riding M", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" } ], "reference": [ { "type": "PubMed", "id": "34125331", "url": "https://glygen.org/publication/PubMed/34125331" } ] }, { "title": "Absolute Quantification of Phosphorylated ERbeta Amino Acids in the Hippocampus of Women and in A Rat Model of Menopause.", "journal": "Endocrinology", "date": "2021", "authors": "Zhang M, Flury S, Kim CK, Chung WCJ, Kirk JA, Pak TR", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" } ], "reference": [ { "type": "PubMed", "id": "34147032", "url": "https://glygen.org/publication/PubMed/34147032" } ] }, { "title": "Sex-specific effects of 17beta-estradiol and dihydrotestosterone (DHT) on growth plate chondrocytes are dependent on both ERalpha and ERbeta and require palmitoylation to translocate the receptors to the plasma membrane.", "journal": "Biochimica et biophysica acta. Molecular and cell biology of lipids", "date": "2021", "authors": "Joshua Cohen D, ElBaradie K, Boyan BD, Schwartz Z", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" } ], "reference": [ { "type": "PubMed", "id": "34416391", "url": "https://glygen.org/publication/PubMed/34416391" } ] }, { "title": "Impact of pubertal onset on region-specific Esr2 expression.", "journal": "Journal of neuroendocrinology", "date": "2021", "authors": "Drzewiecki CM, Sellinger EP, Juraska JM", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" } ], "reference": [ { "type": "PubMed", "id": "34463394", "url": "https://glygen.org/publication/PubMed/34463394" } ] }, { "title": "ERbeta Regulation of Gonadotropin Responses during Folliculogenesis.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Lee EB, Chakravarthi VP, Wolfe MW, Rumi MAK", "evidence": [ { "database": "RefSeq", "id": "NP_036886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036886" } ], "reference": [ { "type": "PubMed", "id": "34638689", "url": "https://glygen.org/publication/PubMed/34638689" } ] }, { "title": "Cloning of a novel receptor expressed in rat prostate and ovary.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1996", "authors": "Kuiper GG, Enmark E, Pelto-Huikko M, Nilsson S, Gustafsson JA", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "reference": [ { "type": "PubMed", "id": "8650195", "url": "https://glygen.org/publication/PubMed/8650195" } ] }, { "title": "Identification of estrogen receptor beta2, a functional variant of estrogen receptor beta expressed in normal rat tissues.", "journal": "Endocrinology", "date": "1998", "authors": "Brown T.A., Koza-Taylor P.H., Turi T.G., Tkalcevic G.T., Petersen D.N.", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "reference": [ { "type": "PubMed", "id": "9492041", "url": "https://glygen.org/publication/PubMed/9492041" } ] }, { "title": "A novel isoform of rat estrogen receptor beta with 18 amino acid insertion in the ligand binding domain as a putative dominant negative regular of estrogen action.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Maruyama K., Hashimoto S., Kato S., Endoh H., Kawashima H., Kanou H., Sasaki-Iwaoka H., Shimaya E.", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "reference": [ { "type": "PubMed", "id": "9600083", "url": "https://glygen.org/publication/PubMed/9600083" } ] } ], "pathway": [ { "id": "rno:25149", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:25149", "resource": "KEGG Pathway" }, { "id": "R-RNO-1257604", "name": "PIP3 activates AKT signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1257604", "resource": "Reactome", "description": "PIP3 activates AKT signaling" }, { "id": "R-RNO-383280", "name": "Nuclear Receptor transcription pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-383280", "resource": "Reactome", "description": "Nuclear Receptor transcription pathway" }, { "id": "R-RNO-6811558", "name": "PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6811558", "resource": "Reactome", "description": "PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling" }, { "id": "R-RNO-8939211", "name": "ESR-mediated signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8939211", "resource": "Reactome", "description": "ESR-mediated signaling" }, { "id": "R-RNO-9009391", "name": "Extra-nuclear estrogen signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9009391", "resource": "Reactome", "description": "Extra-nuclear estrogen signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "O08537-1", "protein_name": "Estrogen receptor beta", "gene_name": "Esr2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEIKNSPSSLTSPASYNCSQSILPLEHGPIYIPSSYVESRHEYSAMTFYSPAVMNYSVPSSTGNLEGGPVRQTASPNVLWPTSGHLSPLATHCQSSLLYAEPQKSPWCEARSLEHTLPVNRETLKRKLGGSGCASPVTSPSAKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRIVRRQRSASEQVHCLNKAKRTSGHTPRVKELLLNSLSPEQLVLTLLEAEPPNVLVSRPSMPFTEASMMMSLTKLADKELVHMIGWAKKIPGFVELSLLDQVRLLESCWMEVLMVGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTARFRELKLQHKEYLCVKAMILLNSSMYPLATASQEAESSRKLTHLLNAVTDALVWVISKSGISSQQQSVRLANLLMLLSHVRHISNKGMEHLLSMKCKNVVPVYDLLLEMLNAHTLRGYKSSISGSECCSTEDSKSKEGSQNLQSQ", "length": 530 }, "evidence": [ { "id": "45225164", "url": "http://www.informatics.jax.org/homology/45225164", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q92731-1", "protein_name": "Estrogen receptor beta", "gene_name": "ESR2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDIKNSPSSLNSPSSYNCSQSILPLEHGSIYIPSSYVDSHHEYPAMTFYSPAVMNYSIPSNVTNLEGGPGRQTTSPNVLWPTPGHLSPLVVHRQLSHLYAEPQKSPWCEARSLEHTLPVNRETLKRKVSGNRCASPVTGPGSKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRLVRRQRSADEQLHCAGKAKRSGGHAPRVRELLLDALSPEQLVLTLLEAEPPHVLISRPSAPFTEASMMMSLTKLADKELVHMISWAKKIPGFVELSLFDQVRLLESCWMEVLMMGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLVTATQDADSSRKLAHLLNAVTDALVWVIAKSGISSQQQSMRLANLLMLLSHVRHASNKGMEHLLNMKCKNVVPVYDLLLEMLNAHVLRGCKSSITGSECSPAEDSKSKEGSQNPQSQ", "length": 530 }, "evidence": [ { "id": "45225164", "url": "http://www.informatics.jax.org/homology/45225164", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 64, "go_terms": [ { "name": "epithelial cell maturation involved in prostate gland development", "id": "GO:0060743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060743", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of feeding behavior", "id": "GO:2000252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000252", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of behavior", "id": "GO:0048521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048521", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "positive regulation of DNA-binding transcription factor activity", "id": "GO:0051091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051091", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of neuron death", "id": "GO:1901215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901215", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "behavioral fear 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q62986", "url": "https://www.uniprot.org/uniprot/Q62986" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": 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