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