{
    "disease_id": "DOID:0111336",
    "recommended_name": {
        "id": "DOID:0111336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111336",
        "name": "craniofacial-deafness-hand syndrome",
        "description": "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111336",
            "name": "CDHS",
            "description": ""
        },
        {
            "id": "DOID:0111336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111336",
            "name": "Sommer-Young-Wee-Frye syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "craniofacial-deafness-hand syndrome",
            "description": "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features."
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "CDHS",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "Sommer-Young-Wee-Frye syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "craniofacial-deafness-hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "craniofacial deafness hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MIM:122880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122880",
            "name": "Craniofacial-deafness-hand syndrome",
            "description": "Craniofacial-deafness-hand syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111336"
    ],
    "unlinked_id_list": []
}