{
    "disease_id": "DOID:0070410",
    "recommended_name": {
        "id": "DOID:0070410",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070410",
        "name": "autosomal recessive spinocerebellar ataxia 29",
        "description": "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14."
    },
    "synonyms": [
        {
            "id": "DOID:0070410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070410",
            "name": "SCAR29",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "spinocerebellar ataxia, autosomal recessive 29",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "Barakat-Van Ham-Kaya syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "SCAR29",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "neurodevelopmental disorder with hypotonia and cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "spinocerebellar ataxia, autosomal recessive 29",
            "description": ""
        },
        {
            "id": "MIM:619389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619389",
            "name": "Spinocerebellar ataxia, autosomal recessive, 29",
            "description": "Spinocerebellar ataxia, autosomal recessive, 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070410"
    ],
    "unlinked_id_list": []
}