{
    "disease_id": "DOID:0070293",
    "recommended_name": {
        "id": "DOID:0070293",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070293",
        "name": "primary autosomal recessive microcephaly 2 with or without cortical malformations",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070293",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070293",
            "name": "MCPH2",
            "description": ""
        },
        {
            "id": "MONDO:0011435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011435",
            "name": "microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
            "description": ""
        },
        {
            "id": "MONDO:0011435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011435",
            "name": "microcephaly 2, primary, autosomal recessive, with or without cortical malformations; MCPH2",
            "description": ""
        },
        {
            "id": "MONDO:0011435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011435",
            "name": "MCPH2",
            "description": ""
        },
        {
            "id": "MONDO:0011435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011435",
            "name": "microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
            "description": ""
        },
        {
            "id": "MIM:604317",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604317",
            "name": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
            "description": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"
        }
    ]
}