MONDO:0012250

{
    "@context": "/terms/",
    "@id": "/phenotype-terms/MONDO_0012250/",
    "@type": [
        "PhenotypeTerm",
        "OntologyTerm",
        "Item"
    ],
    "ancestors": [
        "realizable",
        "nervous system disease",
        "hereditary neuromuscular disease",
        "hereditary peripheral neuropathy",
        "neuromuscular disease",
        "Charcot-Marie-Tooth disease",
        "characteristic",
        "peripheral neuropathy",
        "experimental factor",
        "disposition",
        "entity",
        "disease",
        "peripheral nervous system disorder",
        "hereditary disease",
        "Charcot-Marie-Tooth disease type 4",
        "Charcot-Marie-Tooth disease type 4H",
        "genetic disorder",
        "hereditary neurological disease",
        "human disease",
        "peripheral nervous system disease",
        "continuant",
        "neuropathy",
        "nervous system disorder"
    ],
    "audit": {},
    "creation_timestamp": "2023-11-03T21:54:02.425090+00:00",
    "name": "MONDO_0012250",
    "ontology": "MONDO",
    "release_timestamp": "2023-11-06T21:40:44.674627+00:00",
    "schema_version": "4",
    "status": "released",
    "submitted_by": {
        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
        "title": "Ingrid Youngworth"
    },
    "summary": "Charcot-Marie-Tooth disease type 4H",
    "synonyms": [
        "Charcot-Marie-Tooth disease type 4H",
        "autosomal recessive Charcot-Marie-Tooth disease type 4H",
        "FGD4 Charcot-Marie-Tooth disease type 4",
        "CMT4H",
        "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H",
        "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4",
        "Charcot-Marie-Tooth neuropathy type 4H"
    ],
    "term_id": "MONDO:0012250",
    "term_name": "Charcot-Marie-Tooth disease type 4H",
    "uuid": "ecf70d8d-0f8c-49d8-903d-bfe450e0e937"
}