{
    "disease_id": "DOID:0050754",
    "recommended_name": {
        "id": "DOID:0050754",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050754",
        "name": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050754",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050754",
            "name": "ataxia with oculomotor apraxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
            "description": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia."
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "AOA1",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "APTX oculomotor apraxia or related oculomotor disease",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "oculomotor apraxia or related oculomotor disease caused by mutation in APTX",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "EAOH",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "EOCA-HA",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "early-onset cerebellar ataxia with hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MIM:208920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208920",
            "name": "Ataxia-oculomotor apraxia syndrome",
            "description": "Ataxia-oculomotor apraxia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050754"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050754",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050754",
            "categories": []
        },
        {
            "id": "MONDO:0008842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "categories": []
        },
        {
            "id": "MIM:208920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P61799-1",
            "uniprot_ac": "P61799",
            "uniprot_id": "APTX_DANRE",
            "refseq_ac": "NP_999894",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aprataxin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.71",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.72",
                    "type": "synonym"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                },
                {
                    "name": "aprataxin",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aptx",
                    "type": "recommended"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                },
                {
                    "name": "aptx",
                    "type": "synonym"
                }
            ],
            "record_id": "P61799-1",
            "evidence": [
                {
                    "id": "0050754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TQC5-1",
            "uniprot_ac": "Q7TQC5",
            "uniprot_id": "APTX_MOUSE",
            "refseq_ac": "NP_001020615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aprataxin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.71",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.72",
                    "type": "synonym"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                },
                {
                    "name": "aprataxin isoform b",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aptx",
                    "type": "recommended"
                },
                {
                    "name": "2410016G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aptx",
                    "type": "synonym"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TQC5-1",
            "evidence": [
                {
                    "id": "0050754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z2E3-1",
            "uniprot_ac": "Q7Z2E3",
            "uniprot_id": "APTX_HUMAN",
            "refseq_ac": "NP_001182178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aprataxin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.71",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.72",
                    "type": "synonym"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                },
                {
                    "name": "aprataxin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APTX",
                    "type": "recommended"
                },
                {
                    "name": "AOA1",
                    "type": "synonym"
                },
                {
                    "name": "AOA",
                    "type": "synonym"
                },
                {
                    "name": "APTX",
                    "type": "synonym"
                },
                {
                    "name": "AXA1",
                    "type": "synonym"
                },
                {
                    "name": "EAOH",
                    "type": "synonym"
                },
                {
                    "name": "EOAHA",
                    "type": "synonym"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z2E3-1",
            "evidence": [
                {
                    "id": "208920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208920"
                },
                {
                    "id": "0050754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08702-1",
            "uniprot_ac": "Q08702",
            "uniprot_id": "APTX_YEAST",
            "refseq_ac": "NP_014901",
            "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": "Aprataxin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.71",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.72",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-adenosine monophosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Hit family protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNT3",
                    "type": "recommended"
                },
                {
                    "name": "HNT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08702-1",
            "evidence": [
                {
                    "id": "0050754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4H4-1",
            "uniprot_ac": "Q8K4H4",
            "uniprot_id": "APTX_RAT",
            "refseq_ac": "NP_683687",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aprataxin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.71",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.72",
                    "type": "synonym"
                },
                {
                    "name": "FHA-HIT",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                },
                {
                    "name": "aprataxin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-associated domain histidine triad-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aptx",
                    "type": "recommended"
                },
                {
                    "name": "Aptx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4H4-1",
            "evidence": [
                {
                    "id": "0050754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MSG8-1",
            "uniprot_ac": "Q8MSG8",
            "uniprot_id": "APTX_DROME",
            "refseq_ac": "NP_650805",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aprataxin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Aptx-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG5316-PB",
                    "type": "synonym"
                },
                {
                    "name": "aprataxin, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aptx",
                    "type": "recommended"
                },
                {
                    "name": "Aptx",
                    "type": "synonym"
                },
                {
                    "name": "CG5316",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5316",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5316",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MSG8-1",
            "evidence": [
                {
                    "id": "0050754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050754"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050754"
}