{
    "disease_id": "DOID:0111155",
    "recommended_name": {
        "id": "DOID:0111155",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111155",
        "name": "autosomal recessive spinocerebellar ataxia 21",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111155",
            "name": "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111155",
            "name": "SCAR21",
            "description": ""
        },
        {
            "id": "DOID:0111155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111155",
            "name": "autosomal recessive spinocerebellar ataxia 21 with hepatopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "name": "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
            "description": "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."
        },
        {
            "id": "MONDO:0014744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "name": "SCAR21",
            "description": ""
        },
        {
            "id": "MONDO:0014744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "name": "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "name": "autosomal recessive spinocerebellar ataxia type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "name": "spinocerebellar ataxia, autosomal recessive 21",
            "description": ""
        },
        {
            "id": "MONDO:0014744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "name": "spinocerebellar ataxia, autosomal recessive type 21",
            "description": ""
        },
        {
            "id": "MIM:616719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616719",
            "name": "Spinocerebellar ataxia, autosomal recessive, 21",
            "description": "Spinocerebellar ataxia, autosomal recessive, 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111155"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111155",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111155",
            "categories": []
        },
        {
            "id": "MONDO:0014744",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014744",
            "categories": []
        },
        {
            "id": "MIM:616719",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616719",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F3D6-1",
            "uniprot_ac": "E7F3D6",
            "uniprot_id": "E7F3D6_DANRE",
            "refseq_ac": "XP_001332508",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scyl1",
                    "type": "recommended"
                },
                {
                    "name": "scyl1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F3D6-1",
            "evidence": [
                {
                    "id": "0111155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQC5-1",
            "uniprot_ac": "Q9EQC5",
            "uniprot_id": "SCYL1_MOUSE",
            "refseq_ac": "NP_076401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "105 kDa kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitosis-associated kinase-like protein NTKL",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal kinase-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitosis-associated kinase-like protein NTKL",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitous protein kinase-like (105 kDa)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scyl1",
                    "type": "recommended"
                },
                {
                    "name": "2810011O19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ntkl",
                    "type": "synonym"
                },
                {
                    "name": "Scyl1",
                    "type": "synonym"
                },
                {
                    "name": "mdf",
                    "type": "synonym"
                },
                {
                    "name": "mfd",
                    "type": "synonym"
                },
                {
                    "name": "p105",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQC5-1",
            "evidence": [
                {
                    "id": "0111155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96KG9-1",
            "uniprot_ac": "Q96KG9",
            "uniprot_id": "SCYL1_HUMAN",
            "refseq_ac": "NP_001041683",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Coated vesicle-associated kinase of 90 kDa",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal kinase-like protein isoform B",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like, kinase-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase regulation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase transcriptional element-interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "Teratoma-associated tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "coated vesicle-associated kinase of 90 kDa",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of mouse N-terminal kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "telomerase regulation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "telomerase transcriptional elements-interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "teratoma-associated tyrosine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCYL1",
                    "type": "recommended"
                },
                {
                    "name": "CVAK90",
                    "type": "synonym"
                },
                {
                    "name": "GKLP",
                    "type": "synonym"
                },
                {
                    "name": "HT019",
                    "type": "synonym"
                },
                {
                    "name": "NKTL",
                    "type": "synonym"
                },
                {
                    "name": "NTKL",
                    "type": "synonym"
                },
                {
                    "name": "P105",
                    "type": "synonym"
                },
                {
                    "name": "SCAR21",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1",
                    "type": "synonym"
                },
                {
                    "name": "TAPK",
                    "type": "synonym"
                },
                {
                    "name": "TEIF",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96KG9-1",
            "evidence": [
                {
                    "id": "616719",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616719"
                },
                {
                    "id": "0111155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12453-1",
            "uniprot_ac": "Q12453",
            "uniprot_id": "CEX1_YEAST",
            "refseq_ac": "NP_014755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic export protein 1",
                    "type": "recommended"
                },
                {
                    "name": "COPI-interacting protein CEX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEX1",
                    "type": "recommended"
                },
                {
                    "name": "CEX1",
                    "type": "synonym"
                },
                {
                    "name": "O3240",
                    "type": "synonym"
                },
                {
                    "name": "YOR3240w",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12453-1",
            "evidence": [
                {
                    "id": "0111155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M9F8-1",
            "uniprot_ac": "Q5M9F8",
            "uniprot_id": "SCYL1_RAT",
            "refseq_ac": "NP_001011938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like, kinase-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scyl1",
                    "type": "recommended"
                },
                {
                    "name": "Scyl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M9F8-1",
            "evidence": [
                {
                    "id": "0111155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAH7-1",
            "uniprot_ac": "Q9VAH7",
            "uniprot_id": "Q9VAH7_DROME",
            "refseq_ac": "NP_001263082",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG1973-PB",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "yata, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "yata-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yata",
                    "type": "recommended"
                },
                {
                    "name": "CG1973",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1973",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1973",
                    "type": "synonym"
                },
                {
                    "name": "Yata",
                    "type": "synonym"
                },
                {
                    "name": "yata",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAH7-1",
            "evidence": [
                {
                    "id": "0111155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111155"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111155"
}