{
    "disease_id": "DOID:0060807", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "MICPCH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "intellectual disability and microcephaly with pontine and cerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "mental retardation and microcephaly with pontine and cerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "microcephaly with pontine and cerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "X-linked intellectual disability, Najm type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "mental retardation, X-linked, syndromic, Najm type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "Micpch syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010417", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010417", 
            "name": "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060807", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060807", 
            "name": "mental retardation and microcephaly with pontine and cerebellar hypoplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060807", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060807", 
            "name": "MICPCH"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060807", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060807", 
            "name": "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060807", 
        "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060807", 
        "name": "syndromic X-linked intellectual disability Najm type"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060807#disease-associations", 
            "id": "0060807", 
            "database": "Alliance of Genome Resources"
        }
    ]
}