{
    "disease_id": "DOID:0060955",
    "recommended_name": {
        "id": "DOID:0060955",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060955",
        "name": "dystonia 35, childhood-onset",
        "description": "A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030958",
            "name": "dystonia 35, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0030958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030958",
            "name": "DYT35",
            "description": ""
        },
        {
            "id": "MONDO:0030958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030958",
            "name": "dystonia 35, childhood-onset",
            "description": ""
        },
        {
            "id": "MIM:619921",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619921",
            "name": "Dystonia 35, childhood-onset",
            "description": "Dystonia 35, childhood-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060955"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060955",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060955",
            "categories": []
        },
        {
            "id": "MONDO:0030958",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030958",
            "categories": []
        },
        {
            "id": "MIM:619921",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619921",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L1R0-1",
            "uniprot_ac": "A1L1R0",
            "uniprot_id": "SHQ1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SHQ1 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "shq1",
                    "type": "recommended"
                },
                {
                    "name": "zgc:158255",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L1R0-1",
            "evidence": [
                {
                    "id": "0060955",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060955"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMX5-1",
            "uniprot_ac": "Q7TMX5",
            "uniprot_id": "SHQ1_MOUSE",
            "refseq_ac": "NP_853621",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SHQ1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein SHQ1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shq1",
                    "type": "recommended"
                },
                {
                    "name": "2810403P18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Grim-1",
                    "type": "synonym"
                },
                {
                    "name": "Shq1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMX5-1",
            "evidence": [
                {
                    "id": "0060955",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060955"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PI26-1",
            "uniprot_ac": "Q6PI26",
            "uniprot_id": "SHQ1_HUMAN",
            "refseq_ac": "NP_060600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SHQ1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "SHQ1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "gene associated with retinoid and interferon-induced mortality 1",
                    "type": "synonym"
                },
                {
                    "name": "protein SHQ1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHQ1",
                    "type": "recommended"
                },
                {
                    "name": "DYT35",
                    "type": "synonym"
                },
                {
                    "name": "GRIM-1",
                    "type": "synonym"
                },
                {
                    "name": "NEDDS",
                    "type": "synonym"
                },
                {
                    "name": "SHQ1",
                    "type": "synonym"
                },
                {
                    "name": "Shq1p",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PI26-1",
            "evidence": [
                {
                    "id": "619921",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619921"
                },
                {
                    "id": "0060955",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060955"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40486-1",
            "uniprot_ac": "P40486",
            "uniprot_id": "SHQ1_YEAST",
            "refseq_ac": "NP_012162",
            "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": "Protein SHQ1",
                    "type": "recommended"
                },
                {
                    "name": "Hsp90 cochaperone SHQ1",
                    "type": "synonym"
                },
                {
                    "name": "Small nucleolar RNAs of the box H/ACA family quantitative accumulation protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHQ1",
                    "type": "recommended"
                },
                {
                    "name": "SHQ1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40486-1",
            "evidence": [
                {
                    "id": "0060955",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060955"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FHW6-1",
            "uniprot_ac": "F7FHW6",
            "uniprot_id": "F7FHW6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SHQ1 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Shq1",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FHW6-1",
            "evidence": [
                {
                    "id": "0060955",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060955"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VI74-1",
            "uniprot_ac": "Q9VI74",
            "uniprot_id": "SHQ1_DROME",
            "refseq_ac": "NP_649703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SHQ1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG10055-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG10055",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10055",
                    "type": "synonym"
                },
                {
                    "name": "RE52393",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VI74-1",
            "evidence": [
                {
                    "id": "0060955",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060955"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060955"
}