{
    "disease_id": "DOID:0111688", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010992", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010992", 
            "name": "Aym-Gripp syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010992", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010992", 
            "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010992", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010992", 
            "name": "AYME-Gripp syndrome; AYGRP"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010992", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010992", 
            "name": "AYGRP"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111688", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111688", 
            "name": "AYGRP"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111688", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111688", 
            "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111688", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111688", 
        "name": "Ayme-Gripp syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/601088", 
            "id": "601088", 
            "database": "MIM"
        }
    ]
}