{
    "disease_id": "DOID:0090049",
    "recommended_name": {
        "id": "DOID:0090049",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090049",
        "name": "paroxysmal nonkinesigenic dyskinesia 1",
        "description": "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "paroxysmal nonkinesigenic dyskinesia 1",
            "description": "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene."
        },
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "PNKD paroxysmal dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "PxMD-PNKD",
            "description": ""
        },
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "paroxysmal dyskinesia caused by mutation in PNKD",
            "description": ""
        },
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "paroxysmal nonkinesigenic dyskinesia 1",
            "description": ""
        },
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "paroxysmal nonkinesigenic dyskinesia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0700089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "name": "PNKD1",
            "description": ""
        },
        {
            "id": "MIM:118800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118800",
            "name": "Paroxysmal non-kinesigenic dyskinesia 1",
            "description": "Paroxysmal non-kinesigenic dyskinesia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090049"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090049",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090049",
            "categories": []
        },
        {
            "id": "MONDO:0700089",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700089",
            "categories": []
        },
        {
            "id": "MIM:118800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/118800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NM08-1",
            "uniprot_ac": "F6NM08",
            "uniprot_id": "F6NM08_DANRE",
            "refseq_ac": "NP_001243139",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.2.6",
                    "type": "synonym"
                },
                {
                    "name": "PNKD, MBL domain containing",
                    "type": "synonym"
                },
                {
                    "name": "Probable hydrolase PNKD",
                    "type": "synonym"
                },
                {
                    "name": "myofibrillogenesis regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "paroxysmal nonkinesigenic dyskinesia",
                    "type": "synonym"
                },
                {
                    "name": "probable hydrolase PNKD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pnkd",
                    "type": "recommended"
                },
                {
                    "name": "im:7147352",
                    "type": "synonym"
                },
                {
                    "name": "pnkd",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NM08-1",
            "evidence": [
                {
                    "id": "0090049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q69ZP3-1",
            "uniprot_ac": "Q69ZP3",
            "uniprot_id": "PNKD_MOUSE",
            "refseq_ac": "NP_001034598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable thioesterase PNKD",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.-",
                    "type": "synonym"
                },
                {
                    "name": "MR-1",
                    "type": "synonym"
                },
                {
                    "name": "Myofibrillogenesis regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "Paroxysmal nonkinesiogenic dyskinesia protein",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 17",
                    "type": "synonym"
                },
                {
                    "name": "myofibrillogenesis regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "paroxysmal nonkinesiogenic dyskinesia protein",
                    "type": "synonym"
                },
                {
                    "name": "probable hydrolase PNKD",
                    "type": "synonym"
                },
                {
                    "name": "probable thioesterase PNKD isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "probable thioesterase PNKD",
                    "type": "synonym"
                },
                {
                    "name": "trans-activated by hepatitis C virus core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnkd",
                    "type": "recommended"
                },
                {
                    "name": "2210013N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810403H05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Brp17",
                    "type": "synonym"
                },
                {
                    "name": "Fksg19",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1184",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-5687",
                    "type": "synonym"
                },
                {
                    "name": "MR-1",
                    "type": "synonym"
                },
                {
                    "name": "Mr1",
                    "type": "synonym"
                },
                {
                    "name": "Pnkd",
                    "type": "synonym"
                },
                {
                    "name": "Tahccp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69ZP3-1",
            "evidence": [
                {
                    "id": "0090049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N490-1",
            "uniprot_ac": "Q8N490",
            "uniprot_id": "PNKD_HUMAN",
            "refseq_ac": "NP_001070867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable thioesterase PNKD",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.-",
                    "type": "synonym"
                },
                {
                    "name": "MR-1",
                    "type": "synonym"
                },
                {
                    "name": "Myofibrillogenesis regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "PNKD, MBL domain containing",
                    "type": "synonym"
                },
                {
                    "name": "Paroxysmal nonkinesiogenic dyskinesia protein",
                    "type": "synonym"
                },
                {
                    "name": "Trans-activated by hepatitis C virus core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 17",
                    "type": "synonym"
                },
                {
                    "name": "myofibrillogenesis regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "probable hydrolase PNKD",
                    "type": "synonym"
                },
                {
                    "name": "probable thioesterase PNKD isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable thioesterase PNKD",
                    "type": "synonym"
                },
                {
                    "name": "trans-activated by hepatitis C virus core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNKD",
                    "type": "recommended"
                },
                {
                    "name": "BRP17",
                    "type": "synonym"
                },
                {
                    "name": "DYT8",
                    "type": "synonym"
                },
                {
                    "name": "FKSG19",
                    "type": "synonym"
                },
                {
                    "name": "FPD1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1184",
                    "type": "synonym"
                },
                {
                    "name": "KIPP1184",
                    "type": "synonym"
                },
                {
                    "name": "MR-1S",
                    "type": "synonym"
                },
                {
                    "name": "MR-1",
                    "type": "synonym"
                },
                {
                    "name": "MR1",
                    "type": "synonym"
                },
                {
                    "name": "PDC",
                    "type": "synonym"
                },
                {
                    "name": "PKND1",
                    "type": "synonym"
                },
                {
                    "name": "PNKD1",
                    "type": "synonym"
                },
                {
                    "name": "PNKD",
                    "type": "synonym"
                },
                {
                    "name": "PRO5778",
                    "type": "synonym"
                },
                {
                    "name": "R1",
                    "type": "synonym"
                },
                {
                    "name": "TAHCCP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N490-1",
            "evidence": [
                {
                    "id": "118800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/118800"
                },
                {
                    "id": "0090049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12320-1",
            "uniprot_ac": "Q12320",
            "uniprot_id": "GLO4_YEAST",
            "refseq_ac": "NP_014683",
            "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": "Hydroxyacylglutathione hydrolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.6",
                    "type": "synonym"
                },
                {
                    "name": "Glx II",
                    "type": "synonym"
                },
                {
                    "name": "Glyoxalase II",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacylglutathione hydrolase GLO4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLO4",
                    "type": "recommended"
                },
                {
                    "name": "GER1",
                    "type": "synonym"
                },
                {
                    "name": "GLO4",
                    "type": "synonym"
                },
                {
                    "name": "O2758",
                    "type": "synonym"
                },
                {
                    "name": "OR26.33",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12320-1",
            "evidence": [
                {
                    "id": "0090049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05584-1",
            "uniprot_ac": "Q05584",
            "uniprot_id": "GLO2_YEAST",
            "refseq_ac": "NP_010558",
            "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": "Hydroxyacylglutathione hydrolase, cytoplasmic isozyme",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.6",
                    "type": "synonym"
                },
                {
                    "name": "Glx II",
                    "type": "synonym"
                },
                {
                    "name": "Glyoxalase II",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacylglutathione hydrolase GLO2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLO2",
                    "type": "recommended"
                },
                {
                    "name": "D9954.5",
                    "type": "synonym"
                },
                {
                    "name": "GLO2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05584-1",
            "evidence": [
                {
                    "id": "0090049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXB0-1",
            "uniprot_ac": "D3ZXB0",
            "uniprot_id": "D3ZXB0_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable thioesterase PNKD",
                    "type": "recommended"
                },
                {
                    "name": "Myofibrillogenesis regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "Paroxysmal nonkinesiogenic dyskinesia protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnkd",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZXB0-1",
            "evidence": [
                {
                    "id": "0090049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090049"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090049"
}