{
    "disease_id": "DOID:0070296",
    "recommended_name": {
        "id": "DOID:0070296",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070296",
        "name": "primary autosomal recessive microcephaly",
        "description": "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation."
    },
    "synonyms": [
        {
            "id": "DOID:0070296",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070296",
            "name": "MCPH",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "microcephaly 1, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene."
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "premature chromosome condensation with microcephaly and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "autosomal recessive primary microcephaly caused by mutation in MCPH1",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "MCPH1 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "premature chromosome condensation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "PCC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "microcephaly 1, primary, autosomal recessive; MCPH1",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "microcephaly 1, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "MCPH1",
            "description": ""
        },
        {
            "id": "MIM:251200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251200",
            "name": "Microcephaly 1, primary, autosomal recessive",
            "description": "Microcephaly 1, primary, autosomal recessive"
        }
    ]
}