{
    "disease_id": "DOID:0070559",
    "recommended_name": {
        "id": "DOID:0070559",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070559",
        "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4",
        "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070559",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4",
            "description": ""
        },
        {
            "id": "DOID:0070559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070559",
            "name": "CAMRQ syndrome 4",
            "description": ""
        },
        {
            "id": "DOID:0070559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070559",
            "name": "CAMRQ4",
            "description": ""
        },
        {
            "id": "DOID:0070559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070559",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",
            "description": ""
        },
        {
            "id": "DOID:0070559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070559",
            "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene."
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "ATP8A2 dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "dysequilibrium syndrome caused by mutation in ATP8A2",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "CAMRQ4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4",
            "description": ""
        },
        {
            "id": "MIM:615268",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615268",
            "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4",
            "description": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070559"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070559",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070559",
            "categories": []
        },
        {
            "id": "MONDO:0014104",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "categories": []
        },
        {
            "id": "MIM:615268",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615268",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TK55-1",
            "uniprot_ac": "A0AB32TK55",
            "uniprot_id": "A0AB32TK55_DANRE",
            "refseq_ac": "XP_068075181",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IB isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp8a2",
                    "type": "recommended"
                },
                {
                    "name": "atp8a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TK55-1",
            "evidence": [
                {
                    "id": "0070559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98200-1",
            "uniprot_ac": "P98200",
            "uniprot_id": "AT8A2_MOUSE",
            "refseq_ac": "NP_056618",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IB",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 8A2, class I",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 8A2, p type",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class I type 8A member 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class 1, member a",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP8A2",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IB",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp8a2",
                    "type": "recommended"
                },
                {
                    "name": "Atp8a2",
                    "type": "synonym"
                },
                {
                    "name": "Atpc1b",
                    "type": "synonym"
                },
                {
                    "name": "agil",
                    "type": "synonym"
                },
                {
                    "name": "wl",
                    "type": "synonym"
                }
            ],
            "record_id": "P98200-1",
            "evidence": [
                {
                    "id": "0070559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NTI2-4",
            "uniprot_ac": "Q9NTI2",
            "uniprot_id": "AT8A2_HUMAN",
            "refseq_ac": "NP_001300670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IB",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class I type 8A member 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, aminophospholipid transporter, class I, type 8A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "ML-1",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP8A2",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IB isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP8A2",
                    "type": "recommended"
                },
                {
                    "name": "ATP8A2",
                    "type": "synonym"
                },
                {
                    "name": "ATPIB",
                    "type": "synonym"
                },
                {
                    "name": "ATP",
                    "type": "synonym"
                },
                {
                    "name": "CAMRQ4",
                    "type": "synonym"
                },
                {
                    "name": "IB",
                    "type": "synonym"
                },
                {
                    "name": "ML-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NTI2-4",
            "evidence": [
                {
                    "id": "615268",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615268"
                },
                {
                    "id": "0070559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39524-1",
            "uniprot_ac": "P39524",
            "uniprot_id": "ATC3_YEAST",
            "refseq_ac": "NP_009376",
            "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": "Phospholipid-transporting ATPase DRS2",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "aminophospholipid-translocating P4-type ATPase DRS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DRS2",
                    "type": "recommended"
                },
                {
                    "name": "DRS2",
                    "type": "synonym"
                },
                {
                    "name": "FUN38",
                    "type": "synonym"
                },
                {
                    "name": "SWA3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39524-1",
            "evidence": [
                {
                    "id": "0070559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQP3-1",
            "uniprot_ac": "A0A8I5ZQP3",
            "uniprot_id": "A0A8I5ZQP3_RAT",
            "refseq_ac": "XP_003751540",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IB isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp8a2",
                    "type": "recommended"
                },
                {
                    "name": "Atp8a2",
                    "type": "synonym"
                },
                {
                    "name": "LOC691889",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZQP3-1",
            "evidence": [
                {
                    "id": "0070559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZF8-1",
            "uniprot_ac": "B7YZF8",
            "uniprot_id": "B7YZF8_DROME",
            "refseq_ac": "NP_001137651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP8A-PH",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 8A, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "CG42321-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP8A",
                    "type": "recommended"
                },
                {
                    "name": "ATP8A",
                    "type": "synonym"
                },
                {
                    "name": "Atp8a",
                    "type": "synonym"
                },
                {
                    "name": "CG17034",
                    "type": "synonym"
                },
                {
                    "name": "CG30061",
                    "type": "synonym"
                },
                {
                    "name": "CG42321",
                    "type": "synonym"
                },
                {
                    "name": "DmCG42321",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42321",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42321",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.54",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZF8-1",
            "evidence": [
                {
                    "id": "0070559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070559"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070559"
}