{
    "disease_id": "DOID:0111781",
    "recommended_name": {
        "id": "DOID:0111781",
        "resource": "Disease Ontology",
        "url": "https://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 the RAB39B gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111781",
            "name": "Laxova-Opitz syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111781",
            "resource": "Disease Ontology",
            "url": "https://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": "A basal ganglia disorder characterized 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": "Laxova-Opitz 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": "Waisman syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "early-onset parkinsonism-intellectual disability 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": "Laxova Brown hogan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "Parkinsonism, early onset with intellectual disability",
            "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": "WAISMAN syndrome",
            "description": ""
        },
        {
            "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": "X-linked recessive basal ganglia disorder with intellectual disability",
            "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": "MONDO:0010709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010709",
            "name": "basal ganglia disorder with intellectual disability",
            "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": "basal ganglion disorder with mental retardation",
            "description": ""
        },
        {
            "id": "MIM:311510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311510",
            "name": "Waisman syndrome",
            "description": "Waisman syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111781"
    ],
    "unlinked_id_list": []
}