{
    "disease_id": "DOID:0111456", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009485", 
            "name": "oculocerebrofacial syndrome, Kaufman type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009485", 
            "name": "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009485", 
            "name": "KOS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009485", 
            "name": "Kaufman oculocerebrofacial syndrome; kos"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009485", 
            "name": "blepharophimosis-ptosis-intellectual disability syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009485", 
            "name": "blepharophimosis-ptosis-intellectual disability syndrome; BPIDS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111456", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111456", 
            "name": "blepharophimosis ptosis intellectual disability syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111456", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111456", 
            "name": "KOS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111456", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111456", 
            "name": "oculocerebrofacial syndrome, Kaufman type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111456", 
        "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 compund heterozygous mutation in UBE3B on chromosome 12q24.11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111456", 
        "name": "Kaufman oculocerebrofacial syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111456#disease-associations", 
            "id": "0111456", 
            "database": "Alliance of Genome Resources"
        }
    ]
}