{ "uniprot_canonical_ac": "A0A0G2JUX8-1", "uniprot_ac": "A0A0G2JUX8", "uniprot_id": "A0A0G2JUX8_RAT", "mass": { "chemical_mass": 27880.0, "monoisotopic_mass": 27880.0 }, "refseq": {}, "gene_names": [ { "name": "Klrc1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JUX8", "id": "A0A0G2JUX8" } ], "protein_names": [ { "name": "Killer cell lectin like receptor C1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8/entry#names_and_taxonomy", "id": "A0A0G2JUX8" } ], "function": [], "disease": [ { "disease_id": "DOID:0050548", "recommended_name": { "id": "DOID:0050548", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050548", "name": "hereditary sensory neuropathy", "description": "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages." }, "synonyms": [ { "id": "DOID:0050548", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050548", "name": "familial dysautonomia, type II", "description": "" }, { "id": "DOID:0050548", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory and autonomic, type 1A", "description": "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSAN1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "SPTLC1 hereditary sensory and autonomic neuropathy type 1", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSAN 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSN 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory and autonomic, type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory, type 1A", "description": "" }, { "id": "MIM:162400", "resource": "MIM", "url": "https://www.omim.org/entry/162400", "name": "Neuropathy, hereditary sensory and autonomic, 1A", "description": "Neuropathy, hereditary sensory and autonomic, 1A" } ], "evidence": [ { "id": "0050548", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050548" } ] }, { "disease_id": "DOID:0050696", "recommended_name": { "id": "DOID:0050696", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy." }, "synonyms": [], "evidence": [ { "id": "0050696", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ] }, { "disease_id": "DOID:0050968", "recommended_name": { "id": "DOID:0050968", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050968", "name": "autosomal dominant cerebellar ataxia, deafness and narcolepsy", "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene." }, "synonyms": [ { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "autosomal dominant cerebellar ataxia, deafness and narcolepsy", "description": "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "ADCA-DN syndrome", "description": "" }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "autosomal dominant cerebellar ataxia, deafness and narcolepsy", "description": "" }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "ADCA-DN", "description": "" }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "ADCADN", "description": "" }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "autosomal dominant cerebellar ataxia, deafness, and narcolepsy", "description": "" }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome", "description": "" }, { "id": "MONDO:0011397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011397", "name": "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant", "description": "" }, { "id": "MIM:604121", "resource": "MIM", "url": "https://www.omim.org/entry/604121", "name": "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant", "description": "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" } ], "evidence": [ { "id": "0050968", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050968" } ] }, { "disease_id": "DOID:0070158", "recommended_name": { "id": "DOID:0070158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070158", "name": "hereditary sensory neuropathy type 1E", "description": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0070158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070158", "name": "HSN1E", "description": "" }, { "id": "DOID:0070158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070158", "name": "hereditary sensory neuropathy type IE", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "hereditary sensory neuropathy-deafness-dementia syndrome", "description": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "HSAN1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "HSN1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "Hereditary Sensory and Autonomic Neuropathy Type 1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "hereditary sensory neuropathy type IE", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "DNMT1-related dementia, deafness, and sensory neuropathy", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "HSN 1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "HSNIE", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "hereditary sensory and autonomic neuropathy type 1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "hereditary sensory neuropathy type 1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "hereditary sensory neuropathy with hearing loss and dementia", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "neuropathy, hereditary sensory, type 1E", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "neuropathy, hereditary sensory, type IE", "description": "" }, { "id": "MONDO:0013584", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013584", "name": "neuropathy, hereditary sensory, with hearing loss and dementia", "description": "" }, { "id": "MIM:614116", "resource": "MIM", "url": "https://www.omim.org/entry/614116", "name": "Neuropathy, hereditary sensory, 1E", "description": "Neuropathy, hereditary sensory, 1E" } ], "evidence": [ { "id": "0070158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070158" } ] }, { "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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "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", 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"description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Heart Malformation", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "congenital heart defect", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "heart defect", "description": "" } ], "evidence": [ { "id": "1682", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ] }, { "disease_id": "DOID:1883", "recommended_name": { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." }, "synonyms": [ { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "NANBH", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "Viral hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "chronic hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C infection", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis nonA nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C virus infection", "description": "A viral infection caused by the hepatitis C virus." }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus caused hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "NANBH", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C infection", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis Nona nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis type C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "non-A, non-B Hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "viral hepatitis C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "chronic hepatitis C", "description": "" } ], "evidence": [ { "id": "1883", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ] }, { "disease_id": "DOID:288", "recommended_name": { "id": "DOID:288", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:288", "name": "endometriosis of uterus", "description": "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium." }, "synonyms": [ { "id": "DOID:288", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:288", "name": "Endometriosis interna", "description": "" }, { "id": "DOID:288", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:288", "name": "Endometriosis of myometrium", "description": "" }, { "id": "DOID:288", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:288", "name": "Endometriosis, myometrium", "description": "" }, { "id": "DOID:288", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:288", "name": "adenomyosis", "description": "" }, { "id": "DOID:288", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:288", "name": "uterine Adenomyosis", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "adenomyosis", "description": "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "adenomyosis of the uterus", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "adenomyosis of uterus", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "endometriosis (disease) of myometrium", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "endometriosis interna", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "endometriosis of myometrium", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "endometriosis of uterus", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "endometriosis, myometrium", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "myometrium endometriosis (disease)", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "uterine adenomyosis", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "uterine corpus adenomyosis", "description": "" }, { "id": "MONDO:0010888", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010888", "name": "uterus corpus adenomyosis", "description": "" } ], "evidence": [ { "id": "288", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:288" } ] }, { "disease_id": "DOID:289", "recommended_name": { "id": "DOID:289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." }, "synonyms": [], "evidence": [ { "id": "289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:289" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:3905", "recommended_name": { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." }, "synonyms": [ { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "cancer of lung", "description": "" } ], "evidence": [ { "id": "3905", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:4531", "recommended_name": { "id": "DOID:4531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4531", "name": "mucoepidermoid carcinoma", "description": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation." }, "synonyms": [ { "id": "DOID:4531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4531", "name": "MEC", "description": "" } ], "evidence": [ { "id": "4531", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4531" } ] }, { "disease_id": "DOID:4926", "recommended_name": { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension." }, "synonyms": [ { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioalveolar lung carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioloalveolar carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Minimally Invasive Lung Adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4926", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "5419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "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:8456", "recommended_name": { "id": "DOID:8456", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8456", "name": "choline deficiency disease", "description": "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition." }, "synonyms": [ { "id": "DOID:8456", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8456", "name": "choline deficiency", "description": "" } ], "evidence": [ { "id": "8456", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8456" } ] }, { "disease_id": "DOID:8552", "recommended_name": { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells." }, "synonyms": [ { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML - chronic Myelogenous Leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "Myeloid Leukemia, chronic", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "description": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelocytic leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukaemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 Positive", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemias", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myeloid leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "hematopoeitic - chronic myelocytic leukaemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "hematopoeitic - chronic myelocytic leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "myeloid leukemia, chronic", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myelogenous", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid, atypical", "description": "" }, { "id": "MIM:608232", "resource": "MIM", "url": "https://www.omim.org/entry/608232", "name": "Leukemia, chronic myeloid, atypical", "description": "Leukemia, chronic myeloid, atypical" } ], "evidence": [ { "id": "8552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ] }, { "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": "Lupus", "description": "" }, { "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 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"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:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukemia", "description": 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"url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", 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