{
    "disease_id": "DOID:0081263",
    "recommended_name": {
        "id": "DOID:0081263",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081263",
        "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081263",
            "name": "NEDMCR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "name": "NEDMCR",
            "description": ""
        },
        {
            "id": "MIM:617913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617913",
            "name": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
            "description": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081263"
    ],
    "unlinked_id_list": []
}