{
    "disease_id": "DOID:0111620",
    "recommended_name": {
        "id": "DOID:0111620",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111620",
        "name": "corneal dystrophy-perceptive deafness syndrome",
        "description": "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "CDPD",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "CDPD1",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "Harboyan syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "corneal endothelial dystrophy and perceptive deafness",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "corneal dystrophy and perceptive deafness",
            "description": ""
        },
        {
            "id": "DOID:0111620",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111620",
            "name": "corneal dystrophy with progressive deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "corneal dystrophy-perceptive deafness syndrome",
            "description": "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss."
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "CDPD",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "Harboyan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "corneal dystrophy with progressive deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "congenital corneal dystrophy, progressive sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009015",
            "name": "corneal dystrophy and perceptive deafness",
            "description": ""
        },
        {
            "id": "MIM:217400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217400",
            "name": "Corneal dystrophy and perceptive deafness",
            "description": "Corneal dystrophy and perceptive deafness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111620"
    ],
    "unlinked_id_list": []
}