MONDO:0013820

{
    "@context": "/terms/",
    "@id": "/phenotype-terms/MONDO_0013820/",
    "@type": [
        "PhenotypeTerm",
        "OntologyTerm",
        "Item"
    ],
    "ancestors": [
        "characteristic",
        "disease",
        "BAFopathy",
        "skeletal system disease",
        "skeletal system disorder",
        "multiple congenital anomalies/dysmorphic syndrome",
        "musculoskeletal system disorder",
        "genetic disorder",
        "experimental factor",
        "syndromic disease",
        "autosomal genetic disease",
        "Coffin-Siris syndrome",
        "disorder of development or morphogenesis",
        "realizable",
        "human disease",
        "autosomal dominant disease",
        "disposition",
        "hereditary disease",
        "intellectual disability, autosomal dominant 15",
        "musculoskeletal system disease",
        "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
        "continuant",
        "developmental defect during embryogenesis",
        "entity"
    ],
    "audit": {},
    "creation_timestamp": "2023-11-03T21:57:36.226832+00:00",
    "name": "MONDO_0013820",
    "ontology": "MONDO",
    "release_timestamp": "2023-11-06T21:09:25.079334+00:00",
    "schema_version": "4",
    "status": "released",
    "submitted_by": {
        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
        "title": "Ingrid Youngworth"
    },
    "summary": "intellectual disability, autosomal dominant 15",
    "synonyms": [
        "autosomal dominant mental retardation 15",
        "autosomal dominant intellectual disability 15",
        "intellectual disability, autosomal dominant type 15",
        "SMARCB1-related BAFopathy",
        "COFFIN-SIRIS syndrome 3",
        "intellectual disability, autosomal dominant 15",
        "CSS3",
        "Coffin-Siris syndrome caused by mutation in SMARCB1",
        "mental retardation, autosomal dominant type 15",
        "MRD15",
        "SMARCB1 Coffin-Siris syndrome"
    ],
    "term_id": "MONDO:0013820",
    "term_name": "intellectual disability, autosomal dominant 15",
    "uuid": "f70b70dc-7894-4b18-bb87-439f7e659041"
}