{
    "disease_id": "DOID:0090048",
    "recommended_name": {
        "id": "DOID:0090048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090048",
        "name": "dystonia 16",
        "description": "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "dystonia 16",
            "description": "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "DYT-PRKRA",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "DYT16",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "PRKRA dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "dystonia 16",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "dystonia type 16",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "dystonic disorder caused by mutation in PRKRA",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "early-onset dystonia parkinsonism",
            "description": ""
        },
        {
            "id": "MONDO:0012789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "name": "Young-onset dystonia-(parkinsonism)",
            "description": ""
        },
        {
            "id": "MIM:612067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612067",
            "name": "Dystonia 16",
            "description": "Dystonia 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090048",
            "categories": []
        },
        {
            "id": "MONDO:0012789",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012789",
            "categories": []
        },
        {
            "id": "MIM:612067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0V3F8-1",
            "uniprot_ac": "B0V3F8",
            "uniprot_id": "PRKRA_DANRE",
            "refseq_ac": "NP_001082830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A homolog",
                    "type": "recommended"
                },
                {
                    "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkra",
                    "type": "recommended"
                },
                {
                    "name": "im:7151758",
                    "type": "synonym"
                },
                {
                    "name": "prkra",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-57b20.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162619",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V3F8-1",
            "evidence": [
                {
                    "id": "0090048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTX2-1",
            "uniprot_ac": "Q9WTX2",
            "uniprot_id": "PRKRA_MOUSE",
            "refseq_ac": "NP_036001",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A",
                    "type": "recommended"
                },
                {
                    "name": "PKR-associated protein X",
                    "type": "synonym"
                },
                {
                    "name": "PKR-associating protein X",
                    "type": "synonym"
                },
                {
                    "name": "Protein activator of the interferon-induced protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase, interferon-inducible double-stranded RNA-dependent activator",
                    "type": "synonym"
                },
                {
                    "name": "RAX",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A",
                    "type": "synonym"
                },
                {
                    "name": "protein activator of the interferon-induced protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkra",
                    "type": "recommended"
                },
                {
                    "name": "PRK",
                    "type": "synonym"
                },
                {
                    "name": "Pact",
                    "type": "synonym"
                },
                {
                    "name": "Prkra",
                    "type": "synonym"
                },
                {
                    "name": "RAX",
                    "type": "synonym"
                },
                {
                    "name": "Rax",
                    "type": "synonym"
                },
                {
                    "name": "lear",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTX2-1",
            "evidence": [
                {
                    "id": "0090048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75569-1",
            "uniprot_ac": "O75569",
            "uniprot_id": "PRKRA_HUMAN",
            "refseq_ac": "NP_001132989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A",
                    "type": "recommended"
                },
                {
                    "name": "PKR-associated protein X",
                    "type": "synonym"
                },
                {
                    "name": "PKR-associating protein X",
                    "type": "synonym"
                },
                {
                    "name": "Protein activator of the interferon-induced protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase, interferon-inducible double-stranded RNA-dependent activator",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A",
                    "type": "synonym"
                },
                {
                    "name": "protein activator of the interferon-induced protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, interferon-inducible double-stranded RNA-dependent activator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKRA",
                    "type": "recommended"
                },
                {
                    "name": "DYT16",
                    "type": "synonym"
                },
                {
                    "name": "HSD-14",
                    "type": "synonym"
                },
                {
                    "name": "HSD14",
                    "type": "synonym"
                },
                {
                    "name": "PACT",
                    "type": "synonym"
                },
                {
                    "name": "PRKRA",
                    "type": "synonym"
                },
                {
                    "name": "RAX",
                    "type": "synonym"
                }
            ],
            "record_id": "O75569-1",
            "evidence": [
                {
                    "id": "612067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612067"
                },
                {
                    "id": "0090048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8C7-1",
            "uniprot_ac": "Q4V8C7",
            "uniprot_id": "PRKRA_RAT",
            "refseq_ac": "NP_001019951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A",
                    "type": "recommended"
                },
                {
                    "name": "PKR associated protein X",
                    "type": "synonym"
                },
                {
                    "name": "Protein activator of the interferon-induced protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase, interferon-inducible double-stranded RNA-dependent activator",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A",
                    "type": "synonym"
                },
                {
                    "name": "protein activator of the interferon-induced protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, interferon-inducible double-stranded RNA-dependent activator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkra",
                    "type": "recommended"
                },
                {
                    "name": "Prkra",
                    "type": "synonym"
                },
                {
                    "name": "RAX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8C7-1",
            "evidence": [
                {
                    "id": "0090048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJY9-1",
            "uniprot_ac": "Q9VJY9",
            "uniprot_id": "LOQS_DROME",
            "refseq_ac": "NP_001188796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Loquacious",
                    "type": "recommended"
                },
                {
                    "name": "CG6866-PD",
                    "type": "synonym"
                },
                {
                    "name": "loqs-PD",
                    "type": "synonym"
                },
                {
                    "name": "loquacious, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "loquacious",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "loqs",
                    "type": "recommended"
                },
                {
                    "name": "CG6866",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6866",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6866",
                    "type": "synonym"
                },
                {
                    "name": "LOQS",
                    "type": "synonym"
                },
                {
                    "name": "Loqs-PD",
                    "type": "synonym"
                },
                {
                    "name": "Loqs",
                    "type": "synonym"
                },
                {
                    "name": "LqPD",
                    "type": "synonym"
                },
                {
                    "name": "R3D1-L",
                    "type": "synonym"
                },
                {
                    "name": "R3D1-S",
                    "type": "synonym"
                },
                {
                    "name": "R3D1",
                    "type": "synonym"
                },
                {
                    "name": "TRBP",
                    "type": "synonym"
                },
                {
                    "name": "cg6866",
                    "type": "synonym"
                },
                {
                    "name": "dRax",
                    "type": "synonym"
                },
                {
                    "name": "loqs",
                    "type": "synonym"
                },
                {
                    "name": "loq",
                    "type": "synonym"
                },
                {
                    "name": "r3d1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJY9-1",
            "evidence": [
                {
                    "id": "0090048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090048"
}