{
    "disease_id": "DOID:0090111",
    "recommended_name": {
        "id": "DOID:0090111",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": "https://disease-ontology.org/term/DOID:0090111",
            "name": "Neurologic Waardenburg-Shah syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090111",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090111",
            "name": "PCWH",
            "description": ""
        },
        {
            "id": "DOID:0090111",
            "resource": "Disease Ontology",
            "url": "https://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": "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) 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": "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": "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": "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090111"
    ],
    "unlinked_id_list": []
}