{
    "disease_id": "DOID:0070411",
    "recommended_name": {
        "id": "DOID:0070411",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070411",
        "name": "autosomal recessive spinocerebellar ataxia 30",
        "description": "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15."
    },
    "synonyms": [
        {
            "id": "DOID:0070411",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070411",
            "name": "SCAR30",
            "description": ""
        },
        {
            "id": "MONDO:0030318",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "name": "spinocerebellar ataxia, autosomal recessive 30",
            "description": ""
        },
        {
            "id": "MONDO:0030318",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "name": "SCAR30",
            "description": ""
        },
        {
            "id": "MONDO:0030318",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030318",
            "name": "spinocerebellar ataxia, autosomal recessive 30",
            "description": ""
        },
        {
            "id": "MIM:619405",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619405",
            "name": "Spinocerebellar ataxia, autosomal recessive, 30",
            "description": "Spinocerebellar ataxia, autosomal recessive, 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070411"
    ],
    "unlinked_id_list": []
}