{
    "disease_id": "DOID:0111586",
    "recommended_name": {
        "id": "DOID:0111586",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111586",
        "name": "Martsolf syndrome",
        "description": "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "DOID:0111586",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111586",
            "name": "cataract-intellectual disability-hypogonadism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000008",
            "name": "Martsolf syndrome 1",
            "description": "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism."
        },
        {
            "id": "MONDO:8000008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000008",
            "name": "MARTSOLF syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000008",
            "name": "Martsolf syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000008",
            "name": "cataract-intellectual disability-hypogonadism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000008",
            "name": "cataract-mental retardation-hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:8000008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000008",
            "name": "cataract-intellectual disability-hypogonadism",
            "description": ""
        },
        {
            "id": "MIM:212720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212720",
            "name": "Martsolf syndrome 1",
            "description": "Martsolf syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111586"
    ],
    "unlinked_id_list": []
}