{
    "disease_id": "DOID:0070288",
    "recommended_name": {
        "id": "DOID:0070288",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070288",
        "name": "primary autosomal recessive microcephaly 17",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070288",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070288",
            "name": "MCPH17",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "microcephaly 17, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene."
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "autosomal recessive primary microcephaly caused by mutation in CIT",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "autosomal recessive primary microcephaly caused by mutation in cit",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "microcephaly 17, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "microcephaly 17, primary, autosomal recessive; MCPH17",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "MCPH17",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "CIT autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "cit autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MIM:617090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617090",
            "name": "Microcephaly 17, primary, autosomal recessive",
            "description": "Microcephaly 17, primary, autosomal recessive"
        }
    ]
}