{
    "disease_id": "DOID:0110949",
    "recommended_name": {
        "id": "DOID:0110949",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110949",
        "name": "Waardenburg syndrome type 3",
        "description": "A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36."
    },
    "synonyms": [
        {
            "id": "DOID:0110949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110949",
            "name": "Klein-Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110949",
            "name": "WS3",
            "description": ""
        },
        {
            "id": "DOID:0110949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110949",
            "name": "Waardenburg syndrome type III",
            "description": ""
        },
        {
            "id": "DOID:0110949",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110949",
            "name": "Waardenburg syndrome with upper limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "Waardenburg syndrome type 3",
            "description": "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin."
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "Klein-Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "WS3",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "Waardenburg syndrome type III",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "Waardenburg syndrome with limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "Waardenburg syndrome with upper limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "Waardenburg syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007862",
            "name": "White forelock (poliosis) syndrome with multiple congenital malformations",
            "description": ""
        },
        {
            "id": "MIM:148820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/148820",
            "name": "Waardenburg syndrome 3",
            "description": "Waardenburg syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110949"
    ],
    "unlinked_id_list": []
}
