{
    "disease_id": "DOID:0060272",
    "recommended_name": {
        "id": "DOID:0060272",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060272",
        "name": "pontocerebellar hypoplasia type 3",
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "pontocerebellar hypoplasia type 3",
            "description": "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3."
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "pontocerebellar hypoplasia, type 3; PCH3",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "clam",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCH3",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "Pch with optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "pontocerebellar hypoplasia, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "cerebellar atrophy with progressive microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCLO non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCH with optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCH without dyskinesia",
            "description": ""
        },
        {
            "id": "MIM:608027",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608027",
            "name": "Pontocerebellar hypoplasia 3",
            "description": "Pontocerebellar hypoplasia 3"
        }
    ]
}