{
    "disease_id": "DOID:0051039",
    "recommended_name": {
        "id": "DOID:0051039",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051039",
        "name": "primary autosomal recessive microcephaly 28",
        "description": "A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "name": "microcephaly 28, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0030339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "name": "MCPH28",
            "description": ""
        },
        {
            "id": "MONDO:0030339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "name": "microcephaly 28, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:619453",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619453",
            "name": "Microcephaly 28, primary, autosomal recessive",
            "description": "Microcephaly 28, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051039"
    ],
    "unlinked_id_list": []
}