{
    "disease_id": "DOID:0111638",
    "recommended_name": {
        "id": "DOID:0111638",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111638",
        "name": "autosomal recessive nonsyndromic deafness 100",
        "description": "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111638",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111638",
            "name": "DFNB100",
            "description": ""
        },
        {
            "id": "DOID:0111638",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111638",
            "name": "autosomal recessive deafness 100",
            "description": ""
        },
        {
            "id": "MONDO:0032740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "name": "hearing loss, autosomal recessive 100",
            "description": ""
        },
        {
            "id": "MONDO:0032740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "name": "DFNB100",
            "description": ""
        },
        {
            "id": "MONDO:0032740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "name": "deafness, autosomal recessive 100",
            "description": ""
        },
        {
            "id": "MIM:618422",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618422",
            "name": "Deafness, autosomal recessive, 100",
            "description": "Deafness, autosomal recessive, 100"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111638"
    ],
    "unlinked_id_list": []
}