{
    "disease_id": "DOID:0090052",
    "recommended_name": {
        "id": "DOID:0090052",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090052",
        "name": "dystonia 24",
        "description": "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14."
    },
    "synonyms": [
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "dystonia 24",
            "description": "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene."
        },
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "ANO3 dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "DYT-ANO3",
            "description": ""
        },
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "DYT24",
            "description": ""
        },
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "dystonia 24",
            "description": ""
        },
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "dystonia type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "name": "dystonic disorder caused by mutation in ANO3",
            "description": ""
        },
        {
            "id": "MIM:615034",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615034",
            "name": "Dystonia 24",
            "description": "Dystonia 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090052"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090052",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090052",
            "categories": []
        },
        {
            "id": "MONDO:0014019",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014019",
            "categories": []
        },
        {
            "id": "MIM:615034",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615034",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TLC9-1",
            "uniprot_ac": "A0AB32TLC9",
            "uniprot_id": "A0AB32TLC9_DANRE",
            "refseq_ac": "XP_068073676",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "anoctamin-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ano3",
                    "type": "recommended"
                },
                {
                    "name": "ano3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TLC9-1",
            "evidence": [
                {
                    "id": "0090052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AHL1-1",
            "uniprot_ac": "A2AHL1",
            "uniprot_id": "ANO3_MOUSE",
            "refseq_ac": "NP_001121575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-3",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 16C",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano3",
                    "type": "recommended"
                },
                {
                    "name": "Ano3",
                    "type": "synonym"
                },
                {
                    "name": "B230324K02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem16c",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AHL1-1",
            "evidence": [
                {
                    "id": "0090052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYT9-1",
            "uniprot_ac": "Q9BYT9",
            "uniprot_id": "ANO3_HUMAN",
            "refseq_ac": "NP_001300655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-3",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 16C",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 23",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16C (eight membrane-spanning domains)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANO3",
                    "type": "recommended"
                },
                {
                    "name": "ANO3",
                    "type": "synonym"
                },
                {
                    "name": "C11orf25",
                    "type": "synonym"
                },
                {
                    "name": "DYT23",
                    "type": "synonym"
                },
                {
                    "name": "DYT24",
                    "type": "synonym"
                },
                {
                    "name": "GENX-3947",
                    "type": "synonym"
                },
                {
                    "name": "TMEM16C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYT9-1",
            "evidence": [
                {
                    "id": "615034",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615034"
                },
                {
                    "id": "0090052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M0A0-1",
            "uniprot_ac": "F1M0A0",
            "uniprot_id": "F1M0A0_RAT",
            "refseq_ac": "NP_001417331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "anoctamin-3",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano3",
                    "type": "recommended"
                },
                {
                    "name": "Ano3",
                    "type": "synonym"
                },
                {
                    "name": "Tmem16c",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M0A0-1",
            "evidence": [
                {
                    "id": "0090052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI24-1",
            "uniprot_ac": "M9PI24",
            "uniprot_id": "M9PI24_DROME",
            "refseq_ac": "NP_001261733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "CG6938-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6938",
                    "type": "recommended"
                },
                {
                    "name": "CG6938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6938",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI24-1",
            "evidence": [
                {
                    "id": "0090052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090052"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090052"
}