{
    "disease_id": "DOID:0080311",
    "recommended_name": {
        "id": "DOID:0080311",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080311",
        "name": "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance",
        "description": "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome",
            "description": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities."
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "mental retardation x-linked 60 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 XLMR",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "mental retardation, X-linked 60",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 XLMR, X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "MRX60 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "X-linked intellectual Deficit with cerebellar Hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "Oligophrenin-1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1- related XLID",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "mental retardation, X-linked 60, formerly",
            "description": ""
        },
        {
            "id": "MIM:300486",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300486",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Billuart type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Billuart type"
        }
    ]
}