{
    "disease_id": "DOID:0060557",
    "recommended_name": {
        "id": "DOID:0060557",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060557",
        "name": "ataxia-oculomotor apraxia 3",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060557",
            "name": "ataxia with oculomotor apraxia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014084",
            "name": "ataxia with oculomotor apraxia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014084",
            "name": "ataxia-oculomotor apraxia 3",
            "description": ""
        },
        {
            "id": "MONDO:0014084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014084",
            "name": "ataxia-oculomotor apraxia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014084",
            "name": "AOA3",
            "description": ""
        },
        {
            "id": "MONDO:0014084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014084",
            "name": "ataxia-oculomotor apraxia-3",
            "description": ""
        },
        {
            "id": "MIM:615217",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615217",
            "name": "Ataxia-oculomotor apraxia 3",
            "description": "Ataxia-oculomotor apraxia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060557"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060557",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060557",
            "categories": []
        },
        {
            "id": "MONDO:0014084",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014084",
            "categories": []
        },
        {
            "id": "MIM:615217",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615217",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TLL8-1",
            "uniprot_ac": "A0AB32TLL8",
            "uniprot_id": "A0AB32TLL8_DANRE",
            "refseq_ac": "XP_068074412",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide 3-kinase regulatory subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "phosphoinositide 3-kinase regulatory subunit 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pik3r5",
                    "type": "recommended"
                },
                {
                    "name": "pik3r5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TLL8-1",
            "evidence": [
                {
                    "id": "0060557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SW28-1",
            "uniprot_ac": "Q5SW28",
            "uniprot_id": "PI3R5_MOUSE",
            "refseq_ac": "NP_796294",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide 3-kinase regulatory subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "PI3-kinase p101 subunit",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase regulatory subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase p101",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "p101-PI3K",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide 3-kinase regulatory subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 5, p101",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase p101",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3r5",
                    "type": "recommended"
                },
                {
                    "name": "F730038I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Foap2",
                    "type": "synonym"
                },
                {
                    "name": "Pik3r5",
                    "type": "synonym"
                },
                {
                    "name": "p101",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SW28-1",
            "evidence": [
                {
                    "id": "0060557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WYR1-1",
            "uniprot_ac": "Q8WYR1",
            "uniprot_id": "PI3R5_HUMAN",
            "refseq_ac": "NP_001136105",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide 3-kinase regulatory subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "PI3-kinase p101 subunit",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase regulatory subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Protein FOAP-2",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase p101",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "p101-PI3K",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide 3-kinase regulatory subunit 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein FOAP-2",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase p101",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIK3R5",
                    "type": "recommended"
                },
                {
                    "name": "F730038I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "FOAP-2",
                    "type": "synonym"
                },
                {
                    "name": "P101-PI3K",
                    "type": "synonym"
                },
                {
                    "name": "PIK3R5",
                    "type": "synonym"
                },
                {
                    "name": "p101",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WYR1-1",
            "evidence": [
                {
                    "id": "615217",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615217"
                },
                {
                    "id": "0060557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4I3-1",
            "uniprot_ac": "D4A4I3",
            "uniprot_id": "D4A4I3_RAT",
            "refseq_ac": "NP_001178852",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide 3-kinase regulatory subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "phosphoinositide 3-kinase regulatory subunit 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 5, p101",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3r5",
                    "type": "recommended"
                },
                {
                    "name": "Pik3r5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563261",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A4I3-1",
            "evidence": [
                {
                    "id": "0060557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060557"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060557"
}