{
    "disease_id": "DOID:0110956",
    "recommended_name": {
        "id": "DOID:0110956",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110956",
        "name": "Waardenburg syndrome type 2E",
        "description": "A Waardenburg 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."
    },
    "synonyms": [
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "WS2E",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "WS2E with or without neurological involvement",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "Waardenburg syndrome type IIE",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "Waardenburg syndrome type 2E with or without neurologic involvement",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "Waardenburg syndrome type 2E",
            "description": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene."
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "SOX10 Waardenburg syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "WS2E",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "Waardenburg syndrome type 2 caused by mutation in SOX10",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "Waardenburg syndrome, type 2E",
            "description": ""
        },
        {
            "id": "MIM:611584",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611584",
            "name": "Waardenburg syndrome 2E",
            "description": "Waardenburg syndrome 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110956"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110956",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "categories": []
        },
        {
            "id": "MONDO:0012698",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "categories": []
        },
        {
            "id": "MIM:611584",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611584",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0110956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110956"
                }
            ]
        },
        {
            "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": "611584",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611584"
                },
                {
                    "id": "0110956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110956"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "O55170-1",
            "evidence": [
                {
                    "id": "0110956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110956"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "Sox100",
                    "type": "synonym"
                },
                {
                    "name": "Sox9",
                    "type": "synonym"
                },
                {
                    "name": "SoxB",
                    "type": "synonym"
                },
                {
                    "name": "dSox9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA17-1",
            "evidence": [
                {
                    "id": "0110956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110956"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0110956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110956"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110956"
}