{
    "disease_id": "DOID:0060807",
    "recommended_name": {
        "id": "DOID:0060807",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060807",
        "name": "syndromic X-linked intellectual disability Najm type",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060807",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060807",
            "name": "mental retardation and microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0060807",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060807",
            "name": "MICPCH",
            "description": ""
        },
        {
            "id": "DOID:0060807",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060807",
            "name": "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "syndromic X-linked intellectual disability Najm type",
            "description": "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development."
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "MICPCH",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "intellectual disability and microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation and microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "X-linked intellectual disability, Najm type",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation, X-linked, syndromic, Najm type",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "Micpch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:300749",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300749",
            "name": "Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia",
            "description": "Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia"
        }
    ]
}