{
    "disease_id": "DOID:0070057",
    "recommended_name": {
        "id": "DOID:0070057",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070057",
        "name": "Coffin-Siris syndrome 9",
        "description": "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "name": "MRD27",
            "description": ""
        },
        {
            "id": "DOID:0070057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "name": "autosomal dominant mental retardation 27",
            "description": ""
        },
        {
            "id": "DOID:0070057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "name": "autosomal dominant non-syndromic intellectual disability 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "CSS9",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "Coffin-Siris syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "MRD27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "autosomal dominant intellectual disability 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "intellectual disability, autosomal dominant 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "intellectual disability, autosomal dominant type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "mental retardation, autosomal dominant type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "mental retardation, autosomal dominant 27",
            "description": ""
        },
        {
            "id": "MIM:615866",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615866",
            "name": "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism",
            "description": "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070057"
    ],
    "unlinked_id_list": []
}