{
    "disease_id": "DOID:0111688",
    "recommended_name": {
        "id": "DOID:0111688",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111688",
        "name": "Ayme-Gripp syndrome",
        "description": "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111688",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111688",
            "name": "AYGRP",
            "description": ""
        },
        {
            "id": "DOID:0111688",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111688",
            "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "Ayme-Gripp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "Ayme-Gripp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "AYGRP",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:601088",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601088",
            "name": "Ayme-Gripp syndrome",
            "description": "Ayme-Gripp syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111688"
    ],
    "unlinked_id_list": []
}
