{
    "disease_id": "DOID:0111781",
    "recommended_name": {
        "id": "DOID:0111781",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111781",
        "name": "Waisman syndrome",
        "description": "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in RAB39B on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111781",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111781",
            "name": "Laxova-Opitz syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111781",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111781",
            "name": "early-onset parkinsonism-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "early-onset parkinsonism-intellectual disability syndrome",
            "description": "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "WSMN",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "basal ganglion disorder with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "WAISMAN syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Waisman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Wsn",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Laxova-Opitz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "BGMR",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "WAISMAN syndrome; WSMN",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Parkinsonism, early onset with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Parkinsonism, early-onset, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Laxova Brown hogan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "basal ganglia disorder with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "X-linked recessive basal ganglia disorder with mental retardation",
            "description": ""
        },
        {
            "id": "MIM:311510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311510",
            "name": "Waisman syndrome",
            "description": "Waisman syndrome"
        }
    ]
}