{
    "disease_id": "DOID:0070294",
    "recommended_name": {
        "id": "DOID:0070294",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070294",
        "name": "primary autosomal recessive microcephaly 10",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070294",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070294",
            "name": "MCPH10",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "microcephalic primordial dwarfism due to ZNF335 deficiency",
            "description": "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur."
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "microcephalic primordial dwarfism, Walsh type",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "MCPH10",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "microcephaly 10, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "primary autosomal recessive microcephaly 10",
            "description": ""
        },
        {
            "id": "MIM:615095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615095",
            "name": "Microcephaly 10, primary, autosomal recessive",
            "description": "Microcephaly 10, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070294"
    ],
    "unlinked_id_list": []
}