{
    "disease_id": "DOID:0050983",
    "recommended_name": {
        "id": "DOID:0050983",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050983",
        "name": "spinocerebellar ataxia 36",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013594",
            "name": "spinocerebellar ataxia type 36",
            "description": "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia."
        },
        {
            "id": "MONDO:0013594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013594",
            "name": "Asidan",
            "description": ""
        },
        {
            "id": "MONDO:0013594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013594",
            "name": "SCA36",
            "description": ""
        },
        {
            "id": "MONDO:0013594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013594",
            "name": "spinocerebellar ataxia type 36",
            "description": ""
        },
        {
            "id": "MONDO:0013594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013594",
            "name": "spinocerebellar ataxia 36",
            "description": ""
        },
        {
            "id": "MIM:614153",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614153",
            "name": "Spinocerebellar ataxia 36",
            "description": "Spinocerebellar ataxia 36"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050983"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050983",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050983",
            "categories": []
        },
        {
            "id": "MONDO:0013594",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013594",
            "categories": []
        },
        {
            "id": "MIM:614153",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614153",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D6Z1-1",
            "uniprot_ac": "Q9D6Z1",
            "uniprot_id": "NOP56_MOUSE",
            "refseq_ac": "NP_077155",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar protein 56",
                    "type": "recommended"
                },
                {
                    "name": "56kDa with KKE/D repeat",
                    "type": "synonym"
                },
                {
                    "name": "NOP56 ribonucleoprotein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 56",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 5A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nop56",
                    "type": "recommended"
                },
                {
                    "name": "2310044F10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nol5a",
                    "type": "synonym"
                },
                {
                    "name": "Nop56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6Z1-1",
            "evidence": [
                {
                    "id": "0050983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00567-1",
            "uniprot_ac": "O00567",
            "uniprot_id": "NOP56_HUMAN",
            "refseq_ac": "NP_006383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar protein 56",
                    "type": "recommended"
                },
                {
                    "name": "NOP56 ribonucleoprotein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 56",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 5A (56kDa with KKE/D repeat)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOP56",
                    "type": "recommended"
                },
                {
                    "name": "NOL5A",
                    "type": "synonym"
                },
                {
                    "name": "NOP56",
                    "type": "synonym"
                },
                {
                    "name": "SCA36",
                    "type": "synonym"
                }
            ],
            "record_id": "O00567-1",
            "evidence": [
                {
                    "id": "614153",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614153"
                },
                {
                    "id": "0050983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12460-1",
            "uniprot_ac": "Q12460",
            "uniprot_id": "NOP56_YEAST",
            "refseq_ac": "NP_013298",
            "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": "Nucleolar protein 56",
                    "type": "recommended"
                },
                {
                    "name": "Ribosome biosynthesis protein SIK1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of I kappa b protein 1",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP complex protein NOP56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOP56",
                    "type": "recommended"
                },
                {
                    "name": "L8167.9",
                    "type": "synonym"
                },
                {
                    "name": "NOP56",
                    "type": "synonym"
                },
                {
                    "name": "SIK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12460-1",
            "evidence": [
                {
                    "id": "0050983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLK7-1",
            "uniprot_ac": "Q4KLK7",
            "uniprot_id": "Q4KLK7_RAT",
            "refseq_ac": "NP_001020903",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar protein 56",
                    "type": "recommended"
                },
                {
                    "name": "NOP56 ribonucleoprotein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 56",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 5A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nop56",
                    "type": "recommended"
                },
                {
                    "name": "Nol5a",
                    "type": "synonym"
                },
                {
                    "name": "Nop56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLK7-1",
            "evidence": [
                {
                    "id": "0050983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050983"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050983"
}