{
    "disease_id": "DOID:0110956", 
    "synonyms": [
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            "description": "", 
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        }, 
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            "description": "", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012698", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012698", 
            "name": "Waardenburg syndrome type 2 caused by mutation in SOX10"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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            "name": "Ws2E, with or without neurologic involvement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012698", 
            "description": "", 
            "resource": "MONDO", 
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            "name": "Waardenburg syndrome type 2E with or without neurologic involvement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012698", 
            "name": "Waardenburg syndrome, type 2E, with or without neurologic involvement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012698", 
            "name": "Waardenburg syndrome type IIE"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110956", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110956", 
            "name": "WS2E"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110956", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110956", 
            "name": "WS2E with or without neurological involvement"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110956", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110956", 
            "name": "Waardenburg syndrome type IIE"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110956", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110956", 
            "name": "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation"
        }, 
        {
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            "description": "", 
            "resource": "Disease Ontology", 
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            "name": "Waardenburg syndrome type 2E with or without neurologic involvement"
        }, 
        {
            "url": "https://www.omim.org/entry/611584", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:611584", 
            "name": "Waardenburg syndrome 2E"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110956", 
        "description": "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.", 
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        "id": "DOID:0110956", 
        "name": "Waardenburg syndrome type 2E"
    }, 
    "evidence": [
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            "id": "611584", 
            "database": "MIM"
        }
    ]
}
