{
    "disease_id": "DOID:0060275",
    "recommended_name": {
        "id": "DOID:0060275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060275",
        "name": "pontocerebellar hypoplasia type 6",
        "description": "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "pontocerebellar hypoplasia type 6",
            "description": "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis."
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "PCH6",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "RARS2 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "fatal infantile encephalopathy with mitochondrial respiratory chain defects",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "pontocerebellar hypoplasia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "encephalopathy fatal infantile with mitochondrial respiratory chain defects",
            "description": ""
        },
        {
            "id": "MONDO:0012683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012683",
            "name": "pontocerebellar hypoplasia, type 6",
            "description": ""
        },
        {
            "id": "MIM:611523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611523",
            "name": "Pontocerebellar hypoplasia 6",
            "description": "Pontocerebellar hypoplasia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060275"
    ],
    "unlinked_id_list": []
}