{
    "disease_id": "DOID:0110950",
    "recommended_name": {
        "id": "DOID:0110950",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110950",
        "name": "Waardenburg syndrome type 2A",
        "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 mutation in the MITF gene on chromosome 3p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110950",
            "name": "WS2A",
            "description": ""
        },
        {
            "id": "DOID:0110950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110950",
            "name": "Waardenburg syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type 2A",
            "description": "Waardenburg syndrome Type 2 caused by mutations in the MITF gene."
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "MITF Waardenburg syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "WS2A",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type 2 caused by mutation in MITF",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome, type 2A",
            "description": ""
        },
        {
            "id": "MIM:193510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193510",
            "name": "Waardenburg syndrome 2A",
            "description": "Waardenburg syndrome 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110950"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110950",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110950",
            "categories": []
        },
        {
            "id": "MONDO:0008671",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "categories": []
        },
        {
            "id": "MIM:193510",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193510",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08874-1",
            "uniprot_ac": "Q08874",
            "uniprot_id": "MITF_MOUSE",
            "refseq_ac": "NP_001106669",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microphthalmia-associated transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "black eyed white",
                    "type": "synonym"
                },
                {
                    "name": "microphtalmia-associated transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mitf",
                    "type": "recommended"
                },
                {
                    "name": "BCC2",
                    "type": "synonym"
                },
                {
                    "name": "Bhlhe32",
                    "type": "synonym"
                },
                {
                    "name": "Bw",
                    "type": "synonym"
                },
                {
                    "name": "Gsfbcc2",
                    "type": "synonym"
                },
                {
                    "name": "Mitf",
                    "type": "synonym"
                },
                {
                    "name": "Mi",
                    "type": "synonym"
                },
                {
                    "name": "Vitiligo",
                    "type": "synonym"
                },
                {
                    "name": "Vit",
                    "type": "synonym"
                },
                {
                    "name": "Wh",
                    "type": "synonym"
                },
                {
                    "name": "bw",
                    "type": "synonym"
                },
                {
                    "name": "mi",
                    "type": "synonym"
                },
                {
                    "name": "vit",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08874-1",
            "evidence": [
                {
                    "id": "0110950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110950"
                }
            ]
        },
        {
            "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": "193510",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193510"
                },
                {
                    "id": "0110950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38165-1",
            "uniprot_ac": "P38165",
            "uniprot_id": "RTG3_YEAST",
            "refseq_ac": "NP_009447",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retrograde regulation protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Rtg3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RTG3",
                    "type": "recommended"
                },
                {
                    "name": "RTG3",
                    "type": "synonym"
                },
                {
                    "name": "YBL0810",
                    "type": "synonym"
                }
            ],
            "record_id": "P38165-1",
            "evidence": [
                {
                    "id": "0110950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88368-1",
            "uniprot_ac": "O88368",
            "uniprot_id": "MITF_RAT",
            "refseq_ac": "NP_001178018",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microphthalmia-associated transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "melanogenesis associated transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mitf",
                    "type": "recommended"
                },
                {
                    "name": "Mitf",
                    "type": "synonym"
                }
            ],
            "record_id": "O88368-1",
            "evidence": [
                {
                    "id": "0110950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y463-1",
            "uniprot_ac": "Q9Y463",
            "uniprot_id": "DYR1B_HUMAN",
            "refseq_ac": "NP_004705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1B",
                    "type": "recommended"
                },
                {
                    "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": "0110950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110950"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110950"
}