{
    "disease_id": "DOID:0090111",
    "recommended_name": {
        "id": "DOID:0090111",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090111",
        "name": "PCWH syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090111",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090111",
            "name": "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",
            "description": ""
        },
        {
            "id": "DOID:0090111",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090111",
            "name": "Neurologic Waardenburg-Shah syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090111",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090111",
            "name": "PCWH",
            "description": ""
        },
        {
            "id": "DOID:0090111",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090111",
            "name": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "PCWH syndrome",
            "description": "Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy."
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "PCWH",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "WS4 plus",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; PCWH",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "neurologic Waardenburg-Shah syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0012198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "name": "Waardenburg-Shah syndrome, neurologic variant",
            "description": ""
        },
        {
            "id": "MIM:609136",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609136",
            "name": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease",
            "description": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease"
        }
    ]
}