{
    "disease_id": "DOID:0110948",
    "recommended_name": {
        "id": "DOID:0110948",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110948",
        "name": "Waardenburg syndrome type 1",
        "description": "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36."
    },
    "synonyms": [
        {
            "id": "DOID:0110948",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110948",
            "name": "WS1",
            "description": ""
        },
        {
            "id": "DOID:0110948",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110948",
            "name": "Waardenburg syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome type 1",
            "description": "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum."
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "WS1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg's syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:193500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193500",
            "name": "Waardenburg syndrome 1",
            "description": "Waardenburg syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110948"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110948",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110948",
            "categories": []
        },
        {
            "id": "MONDO:0008670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "categories": []
        },
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            "id": "MIM:193500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193500",
            "categories": []
        }
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            "uniprot_ac": "F1Q9S0",
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                }
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                    "name": "Vitiligo",
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                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Minibrain-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "Mirk protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1B",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform p69",
                    "type": "synonym"
                },
                {
                    "name": "minibrain-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "mirk protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYRK1B",
                    "type": "recommended"
                },
                {
                    "name": "AOMS3",
                    "type": "synonym"
                },
                {
                    "name": "DYRK1B",
                    "type": "synonym"
                },
                {
                    "name": "MIRK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y463-1",
            "evidence": [
                {
                    "id": "0110948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75030-1",
            "uniprot_ac": "O75030",
            "uniprot_id": "MITF_HUMAN",
            "refseq_ac": "NP_000239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microphthalmia-associated transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "Class E basic helix-loop-helix protein 32",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe32",
                    "type": "synonym"
                },
                {
                    "name": "class E basic helix-loop-helix protein 32",
                    "type": "synonym"
                },
                {
                    "name": "melanogenesis associated transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "microphtalmia-associated transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MITF",
                    "type": "recommended"
                },
                {
                    "name": "BHLHE32",
                    "type": "synonym"
                },
                {
                    "name": "CMM8",
                    "type": "synonym"
                },
                {
                    "name": "COMMAD",
                    "type": "synonym"
                },
                {
                    "name": "MITF-A",
                    "type": "synonym"
                },
                {
                    "name": "MITF",
                    "type": "synonym"
                },
                {
                    "name": "MI",
                    "type": "synonym"
                },
                {
                    "name": "WS2A",
                    "type": "synonym"
                },
                {
                    "name": "WS2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe32",
                    "type": "synonym"
                }
            ],
            "record_id": "O75030-1",
            "evidence": [
                {
                    "id": "0110948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110948"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110948"
}