{
    "disease_id": "DOID:0111456",
    "recommended_name": {
        "id": "DOID:0111456",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111456",
        "name": "Kaufman oculocerebrofacial syndrome",
        "description": "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111456",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111456",
            "name": "blepharophimosis ptosis intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111456",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111456",
            "name": "oculocerebrofacial syndrome, Kaufman type",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "oculocerebrofacial syndrome, Kaufman type",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "BPIDS",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "blepharophimosis-ptosis-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "oculocerebrofacial syndrome, Kaufman type",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "KOS",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "Kaufman oculocerebrofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "kos",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet",
            "description": ""
        },
        {
            "id": "MONDO:0009485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009485",
            "name": "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet",
            "description": ""
        },
        {
            "id": "MIM:244450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/244450",
            "name": "Kaufman oculocerebrofacial syndrome",
            "description": "Kaufman oculocerebrofacial syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111456"
    ],
    "unlinked_id_list": []
}