{
    "disease_id": "DOID:0090111", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "PCWH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "WS4 plus"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; PCWH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "neurologic Waardenburg-Shah syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012198", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012198", 
            "name": "Waardenburg-Shah syndrome, neurologic variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090111", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090111", 
            "name": "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090111", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090111", 
            "name": "Neurologic Waardenburg-Shah syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090111", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090111", 
            "name": "PCWH"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090111", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090111", 
            "name": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090111", 
        "description": "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090111", 
        "name": "PCWH syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090111#disease-associations", 
            "id": "0090111", 
            "database": "Alliance of Genome Resources"
        }
    ]
}