{
    "disease_id": "DOID:0070557",
    "recommended_name": {
        "id": "DOID:0070557",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070557",
        "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2",
        "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070557",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0070557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070557",
            "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0070557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070557",
            "name": "CAMRQ syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0070557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070557",
            "name": "CAMRQ2",
            "description": ""
        },
        {
            "id": "DOID:0070557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070557",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene."
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "WDR81 dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "dysequilibrium syndrome caused by mutation in WDR81",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "CAMRQ2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2",
            "description": ""
        },
        {
            "id": "MIM:610185",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610185",
            "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2",
            "description": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070557"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070557",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070557",
            "categories": []
        },
        {
            "id": "MONDO:0012430",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "categories": []
        },
        {
            "id": "MIM:610185",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610185",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FEV0-1",
            "uniprot_ac": "E7FEV0",
            "uniprot_id": "WDR81_DANRE",
            "refseq_ac": "NP_001411020",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdr81",
                    "type": "recommended"
                },
                {
                    "name": "fc37g06",
                    "type": "synonym"
                },
                {
                    "name": "wdr81",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc37g06",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FEV0-1",
            "evidence": [
                {
                    "id": "0070557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5ND34-1",
            "uniprot_ac": "Q5ND34",
            "uniprot_id": "WDR81_MOUSE",
            "refseq_ac": "NP_620400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "synonym"
                },
                {
                    "name": "shakey 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr81",
                    "type": "recommended"
                },
                {
                    "name": "Gm883",
                    "type": "synonym"
                },
                {
                    "name": "Wdr81",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00182",
                    "type": "synonym"
                },
                {
                    "name": "nur5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5ND34-1",
            "evidence": [
                {
                    "id": "0070557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q562E7-1",
            "uniprot_ac": "Q562E7",
            "uniprot_id": "WDR81_HUMAN",
            "refseq_ac": "NP_001157145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 81 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 166",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR81",
                    "type": "recommended"
                },
                {
                    "name": "CAMRQ2",
                    "type": "synonym"
                },
                {
                    "name": "CHMRQ",
                    "type": "synonym"
                },
                {
                    "name": "HYC3",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R166",
                    "type": "synonym"
                },
                {
                    "name": "SORF-2",
                    "type": "synonym"
                },
                {
                    "name": "WDR81",
                    "type": "synonym"
                }
            ],
            "record_id": "Q562E7-1",
            "evidence": [
                {
                    "id": "610185",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610185"
                },
                {
                    "id": "0070557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A929-1",
            "uniprot_ac": "D4A929",
            "uniprot_id": "WDR81_RAT",
            "refseq_ac": "NP_001127832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 81",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr81",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311334",
                    "type": "synonym"
                },
                {
                    "name": "Wdr81",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A929-1",
            "evidence": [
                {
                    "id": "0070557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKD0-1",
            "uniprot_ac": "Q9VKD0",
            "uniprot_id": "Q9VKD0_DROME",
            "refseq_ac": "NP_609535",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6734-PA",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 81",
                    "type": "synonym"
                },
                {
                    "name": "Wdr81-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr81",
                    "type": "recommended"
                },
                {
                    "name": "CG6734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6734",
                    "type": "synonym"
                },
                {
                    "name": "Wdr81",
                    "type": "synonym"
                },
                {
                    "name": "cg6734",
                    "type": "synonym"
                },
                {
                    "name": "dWDR81",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKD0-1",
            "evidence": [
                {
                    "id": "0070557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070557"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070557"
}