{
    "disease_id": "DOID:0112324",
    "recommended_name": {
        "id": "DOID:0112324",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112324",
        "name": "pontocerebellar hypoplasia type 11",
        "description": "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112324",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112324",
            "name": "PCH11",
            "description": ""
        },
        {
            "id": "MONDO:0054669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054669",
            "name": "pontocerebellar hypoplasia, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0054669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054669",
            "name": "PCH11",
            "description": ""
        },
        {
            "id": "MONDO:0054669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054669",
            "name": "Pontocerebellar hypoplasia due to TBC1D23",
            "description": ""
        },
        {
            "id": "MONDO:0054669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054669",
            "name": "pontocerebellar hypoplasia, type 11",
            "description": ""
        },
        {
            "id": "MIM:617695",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617695",
            "name": "Pontocerebellar hypoplasia 11",
            "description": "Pontocerebellar hypoplasia 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112324"
    ],
    "unlinked_id_list": []
}