MONDO:0012130

{
    "@context": "/terms/",
    "@id": "/phenotype-terms/MONDO_0012130/",
    "@type": [
        "PhenotypeTerm",
        "OntologyTerm",
        "Item"
    ],
    "ancestors": [
        "human disease",
        "skeletal muscle disorder",
        "realizable",
        "musculoskeletal system disease",
        "neuromuscular disease",
        "experimental factor",
        "hereditary neuromuscular disease",
        "muscular disease",
        "continuant",
        "muscle tissue disorder",
        "myofibrillar myopathy 2",
        "distal myopathy",
        "entity",
        "neuropathy",
        "hereditary neurological disease",
        "hereditary skeletal muscle disorder",
        "hereditary disease",
        "nervous system disorder",
        "genetic disorder",
        "muscular dystrophy",
        "autosomal dominant disease",
        "characteristic",
        "disposition",
        "disease",
        "myopathy",
        "nervous system disease",
        "autosomal dominant distal myopathy",
        "autosomal genetic disease",
        "musculoskeletal system disorder"
    ],
    "audit": {},
    "creation_timestamp": "2023-11-03T21:55:16.258028+00:00",
    "name": "MONDO_0012130",
    "ontology": "MONDO",
    "release_timestamp": "2023-11-06T21:04:31.484168+00:00",
    "schema_version": "4",
    "status": "released",
    "submitted_by": {
        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
        "title": "Ingrid Youngworth"
    },
    "summary": "myofibrillar myopathy 2",
    "synonyms": [
        "myofibrillar myopathy type 2",
        "myopathy, myofibrillar, type 2",
        "CRYAB autosomal dominant distal myopathy",
        "alpha-B crystallinopathy",
        "late-onset distal crystallinopathy",
        "autosomal dominant distal myopathy caused by mutation in CRYAB"
    ],
    "term_id": "MONDO:0012130",
    "term_name": "myofibrillar myopathy 2",
    "uuid": "fd5ed70a-125a-42f2-bb33-72a25868f068"
}