{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0090111",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090111",
            "categories": []
        },
        {
            "id": "MONDO:0012198",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012198",
            "categories": []
        },
        {
            "id": "MIM:609136",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609136",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QN30-1",
            "uniprot_ac": "A0A2R8QN30",
            "uniprot_id": "A0A2R8QN30_DANRE",
            "refseq_ac": "XP_017213076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpz",
                    "type": "recommended"
                },
                {
                    "name": "mpz",
                    "type": "synonym"
                },
                {
                    "name": "p0",
                    "type": "synonym"
                },
                {
                    "name": "sc:d0186",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc04b11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi30g06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103775",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QN30-1",
            "evidence": [
                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27573-1",
            "uniprot_ac": "P27573",
            "uniprot_id": "MYP0_MOUSE",
            "refseq_ac": "NP_001302428",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0",
                    "type": "recommended"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "Myelin protein zero",
                    "type": "synonym"
                },
                {
                    "name": "myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0 isoform MPZ precursor",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpz",
                    "type": "recommended"
                },
                {
                    "name": "Mpp",
                    "type": "synonym"
                },
                {
                    "name": "Mpz",
                    "type": "synonym"
                },
                {
                    "name": "P-zero",
                    "type": "synonym"
                },
                {
                    "name": "P0",
                    "type": "synonym"
                }
            ],
            "record_id": "P27573-1",
            "evidence": [
                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04888-1",
            "uniprot_ac": "Q04888",
            "uniprot_id": "SOX10_MOUSE",
            "refseq_ac": "NP_035567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-10",
                    "type": "recommended"
                },
                {
                    "name": "Protein SOX-21",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 10",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor SOX-M",
                    "type": "synonym"
                },
                {
                    "name": "dominant megacolon",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-10",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox10",
                    "type": "recommended"
                },
                {
                    "name": "Dom",
                    "type": "synonym"
                },
                {
                    "name": "Sox-10",
                    "type": "synonym"
                },
                {
                    "name": "Sox10",
                    "type": "synonym"
                },
                {
                    "name": "Sox21",
                    "type": "synonym"
                },
                {
                    "name": "gt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04888-1",
            "evidence": [
                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56693-1",
            "uniprot_ac": "P56693",
            "uniprot_id": "SOX10_HUMAN",
            "refseq_ac": "NP_008872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-10",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 10",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 10",
                    "type": "synonym"
                },
                {
                    "name": "SRY-related HMG-box gene 10",
                    "type": "synonym"
                },
                {
                    "name": "dominant megacolon, mouse, human homolog of",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX10",
                    "type": "recommended"
                },
                {
                    "name": "DOM",
                    "type": "synonym"
                },
                {
                    "name": "PCWH",
                    "type": "synonym"
                },
                {
                    "name": "SOX-10",
                    "type": "synonym"
                },
                {
                    "name": "SOX10",
                    "type": "synonym"
                },
                {
                    "name": "WS2E",
                    "type": "synonym"
                },
                {
                    "name": "WS4C",
                    "type": "synonym"
                },
                {
                    "name": "WS4",
                    "type": "synonym"
                }
            ],
            "record_id": "P56693-1",
            "evidence": [
                {
                    "id": "609136",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609136"
                },
                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55170-1",
            "uniprot_ac": "O55170",
            "uniprot_id": "SOX10_RAT",
            "refseq_ac": "NP_062066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-10",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 10",
                    "type": "synonym"
                },
                {
                    "name": "SRY box 10",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 10",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox10",
                    "type": "recommended"
                },
                {
                    "name": "Sox10",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0090111",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
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            ]
        },
        {
            "uniprot_canonical_ac": "P06907-1",
            "uniprot_ac": "P06907",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0",
                    "type": "recommended"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "Myelin protein zero",
                    "type": "synonym"
                },
                {
                    "name": "myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0 isoform MPZ precursor",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpz",
                    "type": "recommended"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Mpz",
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            ],
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                    "id": "0090111",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA17-1",
            "uniprot_ac": "Q9VA17",
            "uniprot_id": "Q9VA17_DROME",
            "refseq_ac": "NP_651839",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15552-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sox100B-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sox100B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox100B",
                    "type": "recommended"
                },
                {
                    "name": "CG12098",
                    "type": "synonym"
                },
                {
                    "name": "CG15552",
                    "type": "synonym"
                },
                {
                    "name": "CG18674",
                    "type": "synonym"
                },
                {
                    "name": "CT6009",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15552",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15552",
                    "type": "synonym"
                },
                {
                    "name": "SOX100B",
                    "type": "synonym"
                },
                {
                    "name": "SOXE",
                    "type": "synonym"
                },
                {
                    "name": "Sox100B",
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                },
                {
                    "name": "Sox100",
                    "type": "synonym"
                },
                {
                    "name": "Sox9",
                    "type": "synonym"
                },
                {
                    "name": "SoxB",
                    "type": "synonym"
                },
                {
                    "name": "dSox9",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43638-1",
            "uniprot_ac": "O43638",
            "uniprot_id": "FOXS1_HUMAN",
            "refseq_ac": "NP_004109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein S1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-10",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-like 18 protein",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 10",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein S1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 18 protein",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related activator 10",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 10",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor FREAC-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXS1",
                    "type": "recommended"
                },
                {
                    "name": "FKHL18",
                    "type": "synonym"
                },
                {
                    "name": "FOXS1",
                    "type": "synonym"
                },
                {
                    "name": "FREAC-10",
                    "type": "synonym"
                },
                {
                    "name": "FREAC10",
                    "type": "synonym"
                }
            ],
            "record_id": "O43638-1",
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                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25189-1",
            "uniprot_ac": "P25189",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0",
                    "type": "recommended"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy 1B",
                    "type": "synonym"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "Myelin protein zero",
                    "type": "synonym"
                },
                {
                    "name": "myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0 isoform MPZ precursor",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPZ",
                    "type": "recommended"
                },
                {
                    "name": "CMT1B",
                    "type": "synonym"
                },
                {
                    "name": "CMT1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2I",
                    "type": "synonym"
                },
                {
                    "name": "CMT2J",
                    "type": "synonym"
                },
                {
                    "name": "CMT4E",
                    "type": "synonym"
                },
                {
                    "name": "CMTDI3",
                    "type": "synonym"
                },
                {
                    "name": "CMTDID",
                    "type": "synonym"
                },
                {
                    "name": "DSS",
                    "type": "synonym"
                },
                {
                    "name": "HMSNIB",
                    "type": "synonym"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "MPZ",
                    "type": "synonym"
                },
                {
                    "name": "P0",
                    "type": "synonym"
                }
            ],
            "record_id": "P25189-1",
            "evidence": [
                {
                    "id": "0090111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090111"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090111"
}