{
    "disease_id": "DOID:0060694",
    "recommended_name": {
        "id": "DOID:0060694",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060694",
        "name": "Cayman type cerebellar ataxia",
        "description": "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060694",
            "name": "Cayman cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0011025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "name": "Cayman type cerebellar ataxia",
            "description": "Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia."
        },
        {
            "id": "MONDO:0011025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "name": "Cayman ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0011025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "name": "Cayman type cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0011025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "name": "ataxia, cerebellar, Cayman type",
            "description": ""
        },
        {
            "id": "MONDO:0011025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "name": "ATCAY",
            "description": ""
        },
        {
            "id": "MONDO:0011025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "name": "cerebellar ataxia, Cayman type",
            "description": ""
        },
        {
            "id": "MIM:601238",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601238",
            "name": "Cerebellar ataxia, cayman type",
            "description": "Cerebellar ataxia, cayman type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060694"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060694",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060694",
            "categories": []
        },
        {
            "id": "MONDO:0011025",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011025",
            "categories": []
        },
        {
            "id": "MIM:601238",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601238",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P4L2-1",
            "uniprot_ac": "A0A8M9P4L2",
            "uniprot_id": "A0A8M9P4L2_DANRE",
            "refseq_ac": "XP_073793143",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caytaxin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "caytaxin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atcaya",
                    "type": "recommended"
                },
                {
                    "name": "atcaya",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P4L2-1",
            "evidence": [
                {
                    "id": "0060694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T7U5-1",
            "uniprot_ac": "A0AB32T7U5",
            "uniprot_id": "A0AB32T7U5_DANRE",
            "refseq_ac": "XP_021323986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caytaxin",
                    "type": "synonym"
                },
                {
                    "name": "caytaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atcayb",
                    "type": "recommended"
                },
                {
                    "name": "atcayb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7U5-1",
            "evidence": [
                {
                    "id": "0060694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHE3-1",
            "uniprot_ac": "Q8BHE3",
            "uniprot_id": "ATCAY_MOUSE",
            "refseq_ac": "NP_848777",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caytaxin",
                    "type": "recommended"
                },
                {
                    "name": "ataxia, cerebellar, Cayman type homolog",
                    "type": "synonym"
                },
                {
                    "name": "caytaxin",
                    "type": "synonym"
                },
                {
                    "name": "hesitant",
                    "type": "synonym"
                },
                {
                    "name": "jittery",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atcay",
                    "type": "recommended"
                },
                {
                    "name": "3322401A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atcay",
                    "type": "synonym"
                },
                {
                    "name": "BNIP-H",
                    "type": "synonym"
                },
                {
                    "name": "CLAC",
                    "type": "synonym"
                },
                {
                    "name": "hes",
                    "type": "synonym"
                },
                {
                    "name": "ji",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHE3-1",
            "evidence": [
                {
                    "id": "0060694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WG3-1",
            "uniprot_ac": "Q86WG3",
            "uniprot_id": "ATCAY_HUMAN",
            "refseq_ac": "NP_149053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caytaxin",
                    "type": "recommended"
                },
                {
                    "name": "ATCAY, caytaxin",
                    "type": "synonym"
                },
                {
                    "name": "Ataxia cayman type protein",
                    "type": "synonym"
                },
                {
                    "name": "BNIP-2-homolgy",
                    "type": "synonym"
                },
                {
                    "name": "BNIP-2-homology",
                    "type": "synonym"
                },
                {
                    "name": "BNIP-H",
                    "type": "synonym"
                },
                {
                    "name": "Cayman ataxia",
                    "type": "synonym"
                },
                {
                    "name": "ataxia cayman type protein",
                    "type": "synonym"
                },
                {
                    "name": "ataxia cerebellar Cayman type",
                    "type": "synonym"
                },
                {
                    "name": "caytaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATCAY",
                    "type": "recommended"
                },
                {
                    "name": "ATCAY",
                    "type": "synonym"
                },
                {
                    "name": "BNIP-H",
                    "type": "synonym"
                },
                {
                    "name": "CLAC",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1872",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WG3-1",
            "evidence": [
                {
                    "id": "601238",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601238"
                },
                {
                    "id": "0060694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1M168-1",
            "uniprot_ac": "Q1M168",
            "uniprot_id": "ATCAY_RAT",
            "refseq_ac": "NP_001035280",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caytaxin",
                    "type": "recommended"
                },
                {
                    "name": "ATCAY, caytaxin",
                    "type": "synonym"
                },
                {
                    "name": "ataxia, cerebellar, Cayman type",
                    "type": "synonym"
                },
                {
                    "name": "caytaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atcay",
                    "type": "recommended"
                },
                {
                    "name": "Atcay",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1M168-1",
            "evidence": [
                {
                    "id": "0060694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZJ4-1",
            "uniprot_ac": "Q9VZJ4",
            "uniprot_id": "Q9VZJ4_DROME",
            "refseq_ac": "NP_001261392",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CRAL-TRIO domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11593-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-EST:Posey64",
                    "type": "recommended"
                },
                {
                    "name": "CG11593",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11593",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11593",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey64",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZJ4-1",
            "evidence": [
                {
                    "id": "0060694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060694"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060694"
}