{
    "disease_id": "DOID:0080720",
    "recommended_name": {
        "id": "DOID:0080720",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080720",
        "name": "autosomal dominant congenital deafness with onychodystrophy",
        "description": "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "autosomal dominant deafness - onychodystrophy syndrome",
            "description": "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges."
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "DDOD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "autosomal dominant deafness-onychodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness-onychodystrophy syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "DDOD",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "Ddod syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "Robinson Miller Bensimon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "Robinson-Miller-Bensimon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness and onychodystrophy, dominant form",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness, congenital, and onychodystrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness, congenital, with onychodystrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "familial ectodermal dysplasia with sensori-neural deafness and other anomalies",
            "description": ""
        },
        {
            "id": "MIM:124480",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124480",
            "name": "Deafness, congenital, with onychodystrophy, autosomal dominant",
            "description": "Deafness, congenital, with onychodystrophy, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080720"
    ],
    "unlinked_id_list": []
}