{
    "disease_id": "DOID:0060940",
    "recommended_name": {
        "id": "DOID:0060940",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060940",
        "name": "dystonia 33",
        "description": "A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0030513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030513",
            "name": "dystonia 33",
            "description": ""
        },
        {
            "id": "MONDO:0030513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030513",
            "name": "DYT33",
            "description": ""
        },
        {
            "id": "MIM:619687",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619687",
            "name": "Dystonia 33",
            "description": "Dystonia 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060940"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060940",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060940",
            "categories": []
        },
        {
            "id": "MONDO:0030513",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030513",
            "categories": []
        },
        {
            "id": "MIM:619687",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619687",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q03963-1",
            "uniprot_ac": "Q03963",
            "uniprot_id": "E2AK2_MOUSE",
            "refseq_ac": "NP_035293",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced, double-stranded RNA-activated protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "IFN- type I-induced and dsRNA-activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "IFN-induced and double-stranded RNA-activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-inducible RNA-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "P1/eIF-2A protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "PKR",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase RNA-activated",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase R",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase TIK",
                    "type": "synonym"
                },
                {
                    "name": "T-cell viral integration site",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase EIF2AK2",
                    "type": "synonym"
                },
                {
                    "name": "dsRNA-activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2 alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2A protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced, double-stranded RNA-activated protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible RNA-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "p68 kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase RNA-activated",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, interferon-inducible double stranded RNA dependent",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase TIK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase EIF2AK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2ak2",
                    "type": "recommended"
                },
                {
                    "name": "2310047A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "4732414G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eif2ak2",
                    "type": "synonym"
                },
                {
                    "name": "Pkr",
                    "type": "synonym"
                },
                {
                    "name": "Prkr",
                    "type": "synonym"
                },
                {
                    "name": "Tik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03963-1",
            "evidence": [
                {
                    "id": "0060940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19525-1",
            "uniprot_ac": "P19525",
            "uniprot_id": "E2AK2_HUMAN",
            "refseq_ac": "NP_001129123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced, double-stranded RNA-activated protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-inducible RNA-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "P1/eIF-2A protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "PKR",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase RNA-activated",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase R",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase EIF2AK2",
                    "type": "synonym"
                },
                {
                    "name": "double stranded RNA activated protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2A protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced, double-stranded RNA-activated protein kinase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible elF2alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "p68 kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase RNA-regulated",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase R",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, interferon-inducible double stranded RNA dependent",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 83",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase EIF2AK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2AK2",
                    "type": "recommended"
                },
                {
                    "name": "EIF2AK2",
                    "type": "synonym"
                },
                {
                    "name": "PKR",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R83",
                    "type": "synonym"
                },
                {
                    "name": "PRKR",
                    "type": "synonym"
                }
            ],
            "record_id": "P19525-1",
            "evidence": [
                {
                    "id": "619687",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619687"
                },
                {
                    "id": "0060940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47042-1",
            "uniprot_ac": "P47042",
            "uniprot_id": "IKS1_YEAST",
            "refseq_ac": "NP_012478",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable serine/threonine-protein kinase IKS1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "IRA1 kinase suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase IKS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKS1",
                    "type": "recommended"
                },
                {
                    "name": "IKS1",
                    "type": "synonym"
                },
                {
                    "name": "J1143",
                    "type": "synonym"
                }
            ],
            "record_id": "P47042-1",
            "evidence": [
                {
                    "id": "0060940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63184-1",
            "uniprot_ac": "Q63184",
            "uniprot_id": "E2AK2_RAT",
            "refseq_ac": "NP_062208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced, double-stranded RNA-activated protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-inducible RNA-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "PKR",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase RNA-activated",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase R",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase, interferon-inducible double stranded RNA dependent",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase EIF2AK2",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2A protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced, double-stranded RNA-activated protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible RNA-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase RNA-activated",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase EIF2AK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2ak2",
                    "type": "recommended"
                },
                {
                    "name": "Eif2ak2",
                    "type": "synonym"
                },
                {
                    "name": "Pkr",
                    "type": "synonym"
                },
                {
                    "name": "Prkr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63184-1",
            "evidence": [
                {
                    "id": "0060940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34913-1",
            "uniprot_ac": "P34913",
            "uniprot_id": "HYES_HUMAN",
            "refseq_ac": "NP_001243411",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional epoxide hydrolase 2",
                    "type": "recommended"
                },
                {
                    "name": "Epoxide hydratase",
                    "type": "synonym"
                },
                {
                    "name": "SEH",
                    "type": "synonym"
                },
                {
                    "name": "Soluble epoxide hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional epoxide hydrolase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional epoxide hydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydratase",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydrolase 2, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydrolase 2, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydrolase, soluble",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPHX2",
                    "type": "recommended"
                },
                {
                    "name": "ABHD20",
                    "type": "synonym"
                },
                {
                    "name": "CEH",
                    "type": "synonym"
                },
                {
                    "name": "EPHX2",
                    "type": "synonym"
                },
                {
                    "name": "SEH",
                    "type": "synonym"
                }
            ],
            "record_id": "P34913-1",
            "evidence": [
                {
                    "id": "0060940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060940"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060940"
}