{
    "disease_id": "DOID:0070558",
    "recommended_name": {
        "id": "DOID:0070558",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070558",
        "name": "autosomal recessive spinocerebellar ataxia 34",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "CAMRQ syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "CAMRQ3",
            "description": ""
        },
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "SCAR34",
            "description": ""
        },
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "spinocerebellar ataxia, autosomal recessive 34",
            "description": ""
        },
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3",
            "description": ""
        },
        {
            "id": "DOID:0070558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene."
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "CA8 dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "dysequilibrium syndrome caused by mutation in CA8",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "CAMRQ3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3",
            "description": ""
        },
        {
            "id": "MIM:613227",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613227",
            "name": "Spinocerebellar ataxia, autosomal recessive, 34",
            "description": "Spinocerebellar ataxia, autosomal recessive, 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070558"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070558",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070558",
            "categories": []
        },
        {
            "id": "MONDO:0013188",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "categories": []
        },
        {
            "id": "MIM:613227",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613227",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N588-1",
            "uniprot_ac": "A0A8M1N588",
            "uniprot_id": "A0A8M1N588_DANRE",
            "refseq_ac": "NP_001017571",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase-related protein",
                    "type": "recommended"
                },
                {
                    "name": "CARP VIII",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ca8",
                    "type": "recommended"
                },
                {
                    "name": "ca8",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110118",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N588-1",
            "evidence": [
                {
                    "id": "0070558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28651-1",
            "uniprot_ac": "P28651",
            "uniprot_id": "CAH8_MOUSE",
            "refseq_ac": "NP_031618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase-related protein",
                    "type": "recommended"
                },
                {
                    "name": "CA-RP VIII",
                    "type": "synonym"
                },
                {
                    "name": "CA-VIII",
                    "type": "synonym"
                },
                {
                    "name": "CARP",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-like sequence 1",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca8",
                    "type": "recommended"
                },
                {
                    "name": "Ca8",
                    "type": "synonym"
                },
                {
                    "name": "Cals1",
                    "type": "synonym"
                },
                {
                    "name": "Cals",
                    "type": "synonym"
                },
                {
                    "name": "Car8",
                    "type": "synonym"
                },
                {
                    "name": "Carp",
                    "type": "synonym"
                },
                {
                    "name": "wdl",
                    "type": "synonym"
                }
            ],
            "record_id": "P28651-1",
            "evidence": [
                {
                    "id": "0070558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35219-1",
            "uniprot_ac": "P35219",
            "uniprot_id": "CAH8_HUMAN",
            "refseq_ac": "NP_001308766",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase-related protein",
                    "type": "recommended"
                },
                {
                    "name": "CA-VIII",
                    "type": "synonym"
                },
                {
                    "name": "CA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "CARP",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-like sequence",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-related protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CA8",
                    "type": "recommended"
                },
                {
                    "name": "CA-RP",
                    "type": "synonym"
                },
                {
                    "name": "CA-VIII",
                    "type": "synonym"
                },
                {
                    "name": "CA8",
                    "type": "synonym"
                },
                {
                    "name": "CALS",
                    "type": "synonym"
                },
                {
                    "name": "CAMRQ3",
                    "type": "synonym"
                },
                {
                    "name": "CARP",
                    "type": "synonym"
                },
                {
                    "name": "SCAR34",
                    "type": "synonym"
                }
            ],
            "record_id": "P35219-1",
            "evidence": [
                {
                    "id": "613227",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613227"
                },
                {
                    "id": "0070558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PPN4-1",
            "uniprot_ac": "Q5PPN4",
            "uniprot_id": "CAH8_RAT",
            "refseq_ac": "NP_001009662",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase-related protein",
                    "type": "recommended"
                },
                {
                    "name": "CA-VIII",
                    "type": "synonym"
                },
                {
                    "name": "CARP",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase VIII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca8",
                    "type": "recommended"
                },
                {
                    "name": "Ca8",
                    "type": "synonym"
                },
                {
                    "name": "Car8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PPN4-1",
            "evidence": [
                {
                    "id": "0070558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070558"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070558"
}