{ "uniprot_canonical_ac": "A0A0B4K6N2-1", "uniprot_ac": "A0A0B4K6N2", "uniprot_id": "A0A0B4K6N2_DROME", "mass": { "chemical_mass": 59473.0, "monoisotopic_mass": 59473.0 }, "refseq": { "ac": "NP_001097726", "name": "forkhead box P, isoform D", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097726" }, "gene_names": [ { "name": "FoxP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "CG16899; CG32937; CG43067; dFoxP; Dmcg16899; Dmel\\CG43067; DmFoxP; fd85E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247011", "id": "NP_001247011" }, { "name": "CG16899", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "CG32937", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "CG43067", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "DmFoxP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "Dmcg16899", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "Dmel\\CG43067", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "Dmel_CG43067", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "FoxP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247011", "id": "NP_001247011" }, { "name": "dFoxP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" }, { "name": "fd85E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K6N2", "id": "A0A0B4K6N2" } ], "protein_names": [ { "name": "CG43067-PC; FoxP-PC; forkhead box P; forkhead domain 85E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247011", "id": "NP_001247011" }, { "name": "CG43067-PD; FoxP-PD; forkhead box P; forkhead domain 85E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097726", "id": "NP_001097726" }, { "name": "CG43067-PE; FoxP-PE; forkhead box P; forkhead domain 85E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303501", "id": "NP_001303501" }, { "name": "Forkhead box P, isoform C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0B4K6N2" }, { "name": "forkhead box P, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247011", "id": "NP_001247011" }, { "name": "forkhead box P, isoform D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097726", "id": "NP_001097726" }, { "name": "forkhead box P, isoform E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303501", "id": "NP_001303501" } ], "function": [], "disease": [ { "disease_id": "DOID:0050200", "recommended_name": { "id": "DOID:0050200", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050200", "name": "Korean hemorrhagic fever", "description": "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload." }, "synonyms": [], "evidence": [ { "id": "0050200", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050200" } ] }, { "disease_id": "DOID:0050523", "recommended_name": { "id": "DOID:0050523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050523", "name": "adult T-cell leukemia/lymphoma", "description": "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions." }, "synonyms": [ { "id": "DOID:0050523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050523", "name": "adult T-cell leukemia", "description": "" }, { "id": "DOID:0050523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050523", "name": "Adult T-cell leukemia/lymphoma (HTLV-1 positive)", "description": "" } ], "evidence": [ { "id": "0050523", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ] }, { "disease_id": "DOID:0060038", "recommended_name": { "id": "DOID:0060038", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060038", "name": "specific developmental disorder", "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." }, "synonyms": [], "evidence": [ { "id": "0060038", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060038" } ] }, { "disease_id": "DOID:0060041", "recommended_name": { "id": "DOID:0060041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." }, "synonyms": [], "evidence": [ { "id": "0060041", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "disease_id": "DOID:0081267", "recommended_name": { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32." }, "synonyms": [ { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "GvHD", "description": "" }, { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "graft versus host disease", "description": "" }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "graft-versus-host disease, susceptibility to", "description": "An inherited susceptibility or predisposition to developing graft vs. host disease." }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "GVHDS", "description": "" } ], "evidence": [ { "id": "0081267", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ] }, { "disease_id": "DOID:0090110", "recommended_name": { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "description": "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11." }, "synonyms": [ { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "X-linked autoimmunity-allergic dysregulation syndrome", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "Autoimmune enteropathy type 1", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "DMSD", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "IDDM-secretory diarrhea syndrome", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "IPEX", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "XLAAD", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "XPID", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "autoimmunity-immunodeficiency syndrome, X-linked", "description": "" }, { "id": "DOID:0090110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090110", "name": "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "description": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "DMSD", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IDDM-secretory diarrhea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IDDM-secretory diarrhoea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IPEX", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "X linked polyendocrinopathy", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "X-linked autoimmunity-allergic dysregulation syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "XLAAD", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "XPID", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "autoimmune enteropathy type 1", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "autoimmunity-immunodeficiency syndrome, X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immune dysfunction and diarrhea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immune dysfunction and diarrhoea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IDDM secretory diarrhea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IDDM secretory diarrhoea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "IPEX syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "Iddm-secretory diarrhea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "Iddm-secretory diarrhoea syndrome", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "Immunodysregulation, polyendocrinopathy and enteropathy X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "autoimmunity-immunodeficiency syndrome X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "islets of Langerhans, absence of", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "polyendocrinopathy, immune dysfunction and diarrhea X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "polyendocrinopathy, immune dysfunction and diarrhoea X-linked", "description": "" }, { "id": "MONDO:0010580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010580", "name": "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked", "description": "" }, { "id": "MIM:304790", "resource": "MIM", "url": "https://www.omim.org/entry/304790", "name": "Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome", "description": "Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome" } ], "evidence": [ { "id": "0090110", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0090110" } ] }, { "disease_id": "DOID:0090131", "recommended_name": { "id": "DOID:0090131", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090131", "name": "complex cortical dysplasia with other brain malformations", "description": "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations." }, "synonyms": [ { "id": "DOID:0090131", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090131", "name": "CDCBM", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "complex cortical dysplasia with other brain malformations 1", "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "CDCBM1", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "TUBB3 complex cortical dysplasia with other brain malformations", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "complex cortical dysplasia with other brain malformations type 1", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "cortical dysplasia, Complex, with Other brain malformations type 1", "description": "" }, { "id": "MONDO:0013541", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013541", "name": "cortical dysplasia, complex, with other brain malformations 1", "description": "" }, { "id": "MIM:614039", "resource": "MIM", "url": "https://www.omim.org/entry/614039", "name": "Cortical dysplasia, complex, with other brain malformations 1", "description": "Cortical dysplasia, complex, with other brain malformations 1" } ], "evidence": [ { "id": "0090131", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0090131" } ] }, { "disease_id": "DOID:0111275", "recommended_name": { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "speech-language disorder-1", "description": "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1." }, "synonyms": [ { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "CAS", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "speech and language disorder with orofacial dyspraxia", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "articulatory apraxia", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "childhood apraxia of speech", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "developmental apraxia of speech", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "developmental verbal dyspraxia", "description": "" }, { "id": "DOID:0111275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111275", "name": "speech-language disorder type 1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "childhood apraxia of speech", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "CAS", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "childhood apraxia of speech", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "developmental verbal dyspraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech and language disorder with orofacial dyspraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech-language disorder type 1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "SPCH1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "articulatory apraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "das", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "developmental apraxia of speech", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "developmental verbal apraxia", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech-language disorder 1", "description": "" }, { "id": "MONDO:0011184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011184", "name": "speech-language disorder-1", "description": "" }, { "id": "MIM:602081", "resource": "MIM", "url": "https://www.omim.org/entry/602081", "name": "Speech-language disorder 1", "description": "Speech-language disorder 1" } ], "evidence": [ { "id": "0111275", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111275" } ] }, { "disease_id": "DOID:0111331", "recommended_name": { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13." }, "synonyms": [ { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "name": "FOXP1 syndrome", "description": "" }, { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "name": "Mental retardation with language impairment and with or without autistic features", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "FOXP1 related global developmental delay, intellectual disability and speech defects", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "intellectual disability with language impairment and with or without autistic features", "description": "" }, { "id": "MONDO:0013352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013352", "name": "mental retardation with language impairment and with or without autistic features", "description": "" }, { "id": "MIM:613670", "resource": "MIM", "url": "https://www.omim.org/entry/613670", "name": "Intellectual developmental disorder with language impairment and with or without autistic features", "description": "Intellectual developmental disorder with language impairment and with or without autistic features" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ] }, { "disease_id": "DOID:106", "recommended_name": { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." }, "synonyms": [ { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Pearly disease", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Tuberculosis of pleura", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Tuberculous pleurisy", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Tuberculous pleuritis", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "tuberculous pleurisy in primary progressive tuberculosis", "description": "" } ], "evidence": [ { "id": "106", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:106" } ] }, { "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:1094", "recommended_name": { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age." }, "synonyms": [ { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "ADHD", "description": "" }, { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "attention deficit disorder", "description": "" }, { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "hyperkinetic disorder", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention deficit-hyperactivity disorder, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "ADHD3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention deficit-hyperactivity disorder, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention deficit-hyperactivity disorder, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "ADHD2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention deficit-hyperactivity disorder, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "ADHD1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention deficit-hyperactivity disorder, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "ADHD4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention deficit-hyperactivity disorder, susceptibility to, 4", "description": "" }, { "id": "MONDO:0100518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100518", "name": "hereditary attention deficit-hyperactivity disorder", "description": "An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual." }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention deficit-hyperactivity disorder, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "ADHD6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention deficit-hyperactivity disorder, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "digit span quantitative trait locus", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention deficit-hyperactivity disorder, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "ADHD5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention deficit-hyperactivity disorder, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "motor timing quantitative trait locus", "description": "" } ], "evidence": [ { "id": "1094", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ] }, { "disease_id": "DOID:11166", "recommended_name": { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." }, "synonyms": [ { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "HPV", "description": "" } ], "evidence": [ { "id": "11166", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ] }, { "disease_id": "DOID:11168", "recommended_name": { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." }, "synonyms": [ { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Genital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital Human papilloma Virus Infectious Disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "genital wart virus infectious disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "venereal wart", "description": "" } ], "evidence": [ { "id": "11168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ] }, { "disease_id": "DOID:11263", "recommended_name": { "id": "DOID:11263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11263", "name": "chlamydia", "description": "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis." }, "synonyms": [ { "id": "DOID:11263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11263", "name": "Chlamydia trachomatis infectious disease", "description": "" }, { "id": "DOID:11263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11263", "name": "Chlamydial Infection", "description": "" }, { "id": "DOID:11263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11263", "name": "chlamydial disease", "description": "" } ], "evidence": [ { "id": "11263", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11263" } ] }, { "disease_id": "DOID:12236", "recommended_name": { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts." }, "synonyms": [ { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "primary biliary cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "biliary liver cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "cholestatic cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "chronic nonsuppurative destructive cholangitis", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "primary biliary cholangitis 1", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "PBC1", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "Pbc", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "biliary cirrhosis, primary, 1", "description": "" } ], "evidence": [ { "id": "12236", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ] }, { "disease_id": "DOID:12365", "recommended_name": { "id": "DOID:12365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle." }, "synonyms": [ { "id": "DOID:12365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12365", "name": "induced malaria", "description": "" } ], "evidence": [ { "id": "12365", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ] }, { "disease_id": "DOID:1255", "recommended_name": { "id": "DOID:1255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1255", "name": "trichostrongyloidiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." }, "synonyms": [], "evidence": [ { "id": "1255", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1255" } ] }, { "disease_id": "DOID:12849", "recommended_name": { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." }, "synonyms": [ { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "Kanner's syndrome", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "childhood autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism spectrum disorder", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "Kanner's syndrome", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism (disease)", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "childhood autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism, susceptiblity to", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder", "description": "" } ], "evidence": [ { "id": "12849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ] }, { "disease_id": "DOID:12858", "recommended_name": { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." }, "synonyms": [ { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "HD", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington disease", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "HD", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's disease", "description": "" }, { "id": "MIM:143100", "resource": "MIM", "url": "https://www.omim.org/entry/143100", "name": "Huntington disease", "description": "Huntington disease" } ], "evidence": [ { "id": "12858", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ] }, { "disease_id": "DOID:1459", "recommended_name": { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone." }, "synonyms": [ { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "Thyroid deficiency", "description": "" }, { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "Thyroid insufficiency", "description": "" } ], "evidence": [ { "id": "1459", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ] }, { "disease_id": "DOID:1470", "recommended_name": { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality." }, "synonyms": [ { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "clinical depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "recurrent major depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "single major depressive episode", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "unipolar depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "major depression", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "MDD2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder type 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "unipolar depression 2", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "MDD1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder type 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "unipolar depression 1", "description": "" } ], "evidence": [ { "id": "1470", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ] }, { "disease_id": "DOID:1682", "recommended_name": { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "congenital heart disease", "description": "" }, "synonyms": [ { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Congenital Heart Defects", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Congenital anomaly of heart", "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:2043", "recommended_name": { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice." }, "synonyms": [ { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "chronic hepatitis B", "description": "" }, { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B infection", "description": "" } ], "evidence": [ { "id": "2043", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ] }, { "disease_id": "DOID:2799", "recommended_name": { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." }, "synonyms": [ { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "Bronchiolitis exudativa", "description": "" }, { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "Bronchiolitis fibrosa obliterans", "description": "" }, { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "Obliterative bronchiolitis", "description": "" } ], "evidence": [ { "id": "2799", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ] }, { "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: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:2957", "recommended_name": { "id": "DOID:2957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." }, "synonyms": [], "evidence": [ { "id": "2957", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ] }, { "disease_id": "DOID:321", "recommended_name": { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms." }, "synonyms": [ { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "HTLV-associated myelopathy", "description": "" }, { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "Tropical spastic paralysis", "description": "" }, { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "Tropical spastic paraplegia", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraparesis", "description": "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-associated myelopathy", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "TSP", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "ham/TSP", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paralysis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraplegia", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "familial spastic paraparesis, HTLV-1-associated", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "ham", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "myelopathy, HTLV-1-associated", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraparesis (formerly)", "description": "" } ], "evidence": [ { "id": "321", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:321" } ] }, { "disease_id": "DOID:3744", "recommended_name": { "id": "DOID:3744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix." }, "synonyms": [ { "id": "DOID:3744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3744", "name": "squamous cell carcinoma of cervix", "description": "" }, { "id": "DOID:3744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3744", "name": "squamous cell carcinoma of the Cervix Uteri", "description": "" } ], "evidence": [ { "id": "3744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ] }, { "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:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:401", "recommended_name": { "id": "DOID:401", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:401", "name": "multidrug-resistant tuberculosis", "description": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." }, "synonyms": [], "evidence": [ { "id": "401", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:401" } ] }, { "disease_id": "DOID:4166", "recommended_name": { "id": "DOID:4166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4166", "name": "syphilis", "description": "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." }, "synonyms": [ { "id": "DOID:4166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4166", "name": "syphilitic chancre", "description": "" } ], "evidence": [ { "id": "4166", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ] }, { "disease_id": "DOID:4186", "recommended_name": { "id": "DOID:4186", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4186", "name": "articulation disorder", "description": "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand." }, "synonyms": [ { "id": "DOID:4186", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4186", "name": "Articulation impairment", "description": "" }, { "id": "DOID:4186", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4186", "name": "Phonological disorder", "description": "" } ], "evidence": [ { "id": "4186", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4186" } ] }, { "disease_id": "DOID:4428", "recommended_name": { "id": "DOID:4428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4428", "name": "dyslexia", "description": "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability." }, "synonyms": [ { "id": "MONDO:0011747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011747", "name": "dyslexia, susceptibility to, 5", "description": "" }, { "id": "MONDO:0011747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011747", "name": "DYX5", "description": "" }, { "id": "MONDO:0011747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011747", "name": "dyslexia, susceptibility to, 5", "description": "" }, { "id": "MONDO:0010348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010348", "name": "dyslexia, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010348", "name": "DYX9", "description": "" }, { "id": "MONDO:0010348", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010348", "name": "dyslexia, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010843", "name": "dyslexia, susceptibility to, 2", "description": "" }, { "id": "MONDO:0010843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010843", "name": "DYX2", "description": "" }, { "id": "MONDO:0010843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010843", "name": "dyslexia, susceptibility to, 2", "description": "" }, { "id": "MONDO:0010843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010843", "name": "reading disability, specific, 2", "description": "" }, { "id": "MONDO:0012168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012168", "name": "dyslexia, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012168", "name": "DYX8", "description": "" }, { "id": "MONDO:0012168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012168", "name": "dyslexia, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012168", "name": "dyslexia, susceptibility to, 8, multifactorial", "description": "" }, { "id": "MONDO:0011418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011418", "name": "dyslexia, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011418", "name": "DYX3", "description": "" }, { "id": "MONDO:0011418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011418", "name": "dyslexia, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011689", "name": "dyslexia, susceptibility to, 6", "description": "" }, { "id": "MONDO:0011689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011689", "name": "DYX6", "description": "" }, { "id": "MONDO:0011689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011689", "name": "dyslexia, susceptibility to, 6", "description": "" }, { "id": "MIM:600202", "resource": "MIM", "url": "https://www.omim.org/entry/600202", "name": "Dyslexia 2", "description": "Dyslexia 2" } ], "evidence": [ { "id": "4428", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4428" } ] }, { "disease_id": "DOID:4914", "recommended_name": { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "Oesophageal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4914", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ] }, { "disease_id": "DOID:4928", "recommended_name": { "id": "DOID:4928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree." }, "synonyms": [ { "id": "DOID:4928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4928", "name": "Intrahepatic bile duct carcinoma", "description": "" }, { "id": "DOID:4928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4928", "name": "peripheral Cholangiocarcinoma", "description": "" } ], "evidence": [ { "id": "4928", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ] }, { "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: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:8568", "recommended_name": { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly." }, "synonyms": [ { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Filatov's disease", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Gammaherpesviral mononucleosis", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Monocytic angina", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "Pfeiffer's disease", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "glandular fever", "description": "" }, { "id": "DOID:8568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8568", "name": "mononucleosis", "description": "" } ], "evidence": [ { "id": "8568", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ] }, { "disease_id": "DOID:9111", "recommended_name": { "id": "DOID:9111", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions." }, "synonyms": [ { "id": "DOID:9111", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9111", "name": "Asian Desert Cutaneous Leishmaniasis", "description": "" }, { "id": "DOID:9111", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9111", "name": "Leproid leishmaniasis", "description": "" }, { "id": "DOID:9111", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9111", "name": "diffuse cutaneous leishmaniasis", "description": "" } ], "evidence": [ { "id": "9111", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ] }, { "disease_id": "DOID:9169", "recommended_name": { "id": "DOID:9169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9169", "name": "Wiskott-Aldrich syndrome", "description": "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia)." }, "synonyms": [ { "id": "DOID:9169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9169", "name": "Wiskott syndrome", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Wiskott-Aldrich syndrome", "description": "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "WAS", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Wiskott Aldrich syndrome", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Wiskott syndrome", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Wiskott-Aldrich syndrome", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Wiskott-Aldrich syndrome 1", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Wiskott-Aldrich syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "eczema-thrombocytopenia-immunodeficiency syndrome", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "immunodeficiency 2", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Aldrich syndrome", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "Imd 2", "description": "" }, { "id": "MONDO:0010518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010518", "name": "eczema thrombocytopenia immunodeficiency syndrome", "description": "" }, { "id": "MIM:301000", "resource": "MIM", "url": "https://www.omim.org/entry/301000", "name": "Wiskott-Aldrich syndrome", "description": "Wiskott-Aldrich syndrome" } ], "evidence": [ { "id": "9169", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9169" } ] }, { "disease_id": "DOID:9206", "recommended_name": { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium." }, "synonyms": [ { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's oesophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barretts syndrome", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "BE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus/esophageal adenocarcinoma", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barretts syndrome", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "CLE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "cello", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett metaplasia", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of oesophagus", "description": "" }, { "id": "MIM:614266", "resource": "MIM", "url": "https://www.omim.org/entry/614266", "name": "Barrett esophagus", "description": "Barrett esophagus" } ], "evidence": [ { "id": "9206", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ] }, { "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": 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