{
    "disease_id": "DOID:0111627",
    "recommended_name": {
        "id": "DOID:0111627",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111627",
        "name": "DOORS syndrome",
        "description": "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111627",
            "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111627",
            "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111627",
            "name": "DOOR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111627",
            "name": "DOORS",
            "description": ""
        },
        {
            "id": "DOID:0111627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111627",
            "name": "deafness-onychoosteodystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111627",
            "name": "autosomal recessive deafness-onychodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "DOORS syndrome",
            "description": "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome."
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "DOORS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "autosomal recessive deafness-onychodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness-onychoosteodystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "door syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "DOORS",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "Digitorenocerebral syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness onychodystrophy osteodystrophy and intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness onychodystrophy osteodystrophy and mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009079",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009079",
            "name": "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome",
            "description": ""
        },
        {
            "id": "MIM:220500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220500",
            "name": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome",
            "description": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111627"
    ],
    "unlinked_id_list": []
}