{
    "disease_id": "DOID:0081383",
    "recommended_name": {
        "id": "DOID:0081383",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081383",
        "name": "ataxia-oculomotor apraxia 4",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia - oculomotor apraxia type 4",
            "description": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene."
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "AOA4",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "PNKP oculomotor apraxia or related oculomotor disease",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia - oculomotor apraxia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia-oculomotor apraxia 4",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia-oculomotor apraxia-4",
            "description": ""
        },
        {
            "id": "MIM:616267",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616267",
            "name": "Ataxia-oculomotor apraxia 4",
            "description": "Ataxia-oculomotor apraxia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081383"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081383",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081383",
            "categories": []
        },
        {
            "id": "MONDO:0014557",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "categories": []
        },
        {
            "id": "MIM:616267",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616267",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IRS4-1",
            "uniprot_ac": "A0A0R4IRS4",
            "uniprot_id": "A0A0R4IRS4_DANRE",
            "refseq_ac": "XP_005173439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.32",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-kinase/3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional polynucleotide phosphatase/kinase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pnkp",
                    "type": "recommended"
                },
                {
                    "name": "fe48d04",
                    "type": "synonym"
                },
                {
                    "name": "pnkp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe48d04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153084",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IRS4-1",
            "evidence": [
                {
                    "id": "0081383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLV6-1",
            "uniprot_ac": "Q9JLV6",
            "uniprot_id": "PNKP_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
                },
                {
                    "name": "2'(3')-polynucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-kinase/3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnkp",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9JLV6-1",
            "evidence": [
                {
                    "id": "0081383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96T60-1",
            "uniprot_ac": "Q96T60",
            "uniprot_id": "PNKP_HUMAN",
            "refseq_ac": "NP_009185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
                },
                {
                    "name": "2'(3')-polynucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-kinase/3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP)",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional polynucleotide phosphatase/kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNKP",
                    "type": "recommended"
                },
                {
                    "name": "AOA4",
                    "type": "synonym"
                },
                {
                    "name": "CMT2B2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE10",
                    "type": "synonym"
                },
                {
                    "name": "MCSZ",
                    "type": "synonym"
                },
                {
                    "name": "PNKP",
                    "type": "synonym"
                },
                {
                    "name": "PNK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96T60-1",
            "evidence": [
                {
                    "id": "616267",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616267"
                },
                {
                    "id": "0081383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03796-1",
            "uniprot_ac": "Q03796",
            "uniprot_id": "TPP1_YEAST",
            "refseq_ac": "NP_013877",
            "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": "Polynucleotide 3'-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "2'(3')-polynucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.32",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Three prime phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide 3'-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPP1",
                    "type": "recommended"
                },
                {
                    "name": "TPP1",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.05C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03796-1",
            "evidence": [
                {
                    "id": "0081383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JUH4-1",
            "uniprot_ac": "A0A0G2JUH4",
            "uniprot_id": "A0A0G2JUH4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional polynucleotide phosphatase/kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.32",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-kinase/3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase-3'-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnkp",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JUH4-1",
            "evidence": [
                {
                    "id": "0081383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHS0-1",
            "uniprot_ac": "Q9VHS0",
            "uniprot_id": "Q9VHS0_DROME",
            "refseq_ac": "NP_649792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.3.32",
                    "type": "synonym"
                },
                {
                    "name": "CG9601-PA",
                    "type": "synonym"
                },
                {
                    "name": "PNKP ortholog",
                    "type": "synonym"
                },
                {
                    "name": "PNKP-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase 3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide kinase 3'-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNKP",
                    "type": "recommended"
                },
                {
                    "name": "28573184",
                    "type": "synonym"
                },
                {
                    "name": "CG9601",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9601",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9601",
                    "type": "synonym"
                },
                {
                    "name": "PNKP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHS0-1",
            "evidence": [
                {
                    "id": "0081383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081383"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081383"
}