{
    "disease_id": "DOID:0060268",
    "recommended_name": {
        "id": "DOID:0060268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060268",
        "name": "pontocerebellar hypoplasia type 2B",
        "description": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "pontocerebellar hypoplasia type 2B",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene."
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "TSEN2 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "pontocerebellar hypoplasia type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "PCH2B",
            "description": ""
        },
        {
            "id": "MONDO:0012890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012890",
            "name": "pontocerebellar hypoplasia, type 2B",
            "description": ""
        },
        {
            "id": "MIM:612389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612389",
            "name": "Pontocerebellar hypoplasia 2B",
            "description": "Pontocerebellar hypoplasia 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060268"
    ],
    "unlinked_id_list": []
}