{
    "disease_id": "DOID:0080311", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "mental retardation x-linked 60 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "OPHN1 XLMR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "mental retardation, X-linked 60"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "OPHN1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "OPHN1 XLMR, X-linked intellectual disability"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "MRX60 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "X-linked intellectual Deficit with cerebellar Hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "Oligophrenin-1 syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "OPHN1 syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "OPHN1- related XLID"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010337", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010337", 
            "name": "mental retardation, X-linked 60, formerly"
        }, 
        {
            "url": "https://www.omim.org/entry/300486", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:300486", 
            "name": "Mental retardation, X-linked, syndromic, OPHN1-related"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080311", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080311", 
        "name": "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/300486", 
            "id": "300486", 
            "database": "MIM"
        }
    ]
}