{
    "disease_id": "DOID:0111589",
    "recommended_name": {
        "id": "DOID:0111589",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111589",
        "name": "COACH syndrome",
        "description": "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)."
    },
    "synonyms": [
        {
            "id": "DOID:0111589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111589",
            "name": "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis",
            "description": ""
        },
        {
            "id": "DOID:0111589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111589",
            "name": "Gentile syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111589",
            "name": "JS-H",
            "description": ""
        },
        {
            "id": "DOID:0111589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111589",
            "name": "Joubert syndrome with congenital hepatic fibrosis",
            "description": ""
        },
        {
            "id": "DOID:0111589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111589",
            "name": "Joubert syndrome with hepatic defect",
            "description": ""
        },
        {
            "id": "MONDO:0800103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800103",
            "name": "COACH syndrome 1",
            "description": "Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene."
        },
        {
            "id": "MONDO:0800103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800103",
            "name": "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis",
            "description": ""
        },
        {
            "id": "MIM:216360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216360",
            "name": "COACH syndrome 1",
            "description": "COACH syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111589"
    ],
    "unlinked_id_list": []
}