{
    "disease_id": "DOID:0111578",
    "recommended_name": {
        "id": "DOID:0111578",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111578",
        "name": "Gillespie syndrome",
        "description": "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "name": "aniridia-cerebellar ataxia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "name": "GLSP",
            "description": ""
        },
        {
            "id": "DOID:0111578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "name": "aniridia, cerebellar ataxia and mental deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia-cerebellar ataxia-intellectual disability syndrome",
            "description": "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability."
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "Aniridia Cerebellar Ataxia Mental Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "GILLESPIE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "GLSP",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "Gillespie syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia, cerebellar ataxia and mental deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia, cerebellar ataxia, and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia, cerebellar ataxia, and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:206700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/206700",
            "name": "Gillespie syndrome",
            "description": "Gillespie syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111578"
    ],
    "unlinked_id_list": []
}