{
    "disease_id": "DOID:0090055",
    "recommended_name": {
        "id": "DOID:0090055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090055",
        "name": "dystonia 25",
        "description": "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0014033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "name": "dystonia 25",
            "description": "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia."
        },
        {
            "id": "MONDO:0014033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "name": "GNAL dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "name": "dystonia 25",
            "description": ""
        },
        {
            "id": "MONDO:0014033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "name": "dystonia type 25",
            "description": ""
        },
        {
            "id": "MONDO:0014033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "name": "dystonic disorder caused by mutation in GNAL",
            "description": ""
        },
        {
            "id": "MONDO:0014033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "name": "DYT25",
            "description": ""
        },
        {
            "id": "MIM:615073",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615073",
            "name": "Dystonia 25",
            "description": "Dystonia 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090055",
            "categories": []
        },
        {
            "id": "MONDO:0014033",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014033",
            "categories": []
        },
        {
            "id": "MIM:615073",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615073",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CGK7-1",
            "uniprot_ac": "Q8CGK7",
            "uniprot_id": "GNAL_MOUSE",
            "refseq_ac": "NP_034437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(olf) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "G alpha 10",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase-stimulating G alpha protein, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha 10",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(olf) subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(olf) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1o",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnal",
                    "type": "recommended"
                },
                {
                    "name": "2610011C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "9630020G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Galphaolf",
                    "type": "synonym"
                },
                {
                    "name": "Gna10",
                    "type": "synonym"
                },
                {
                    "name": "Gnal",
                    "type": "synonym"
                },
                {
                    "name": "Golf",
                    "type": "synonym"
                },
                {
                    "name": "Hg1o",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGK7-1",
            "evidence": [
                {
                    "id": "0090055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38405-1",
            "uniprot_ac": "P38405",
            "uniprot_id": "GNAL_HUMAN",
            "refseq_ac": "NP_001135811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(olf) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase-stimulating G alpha protein, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(olf) subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(olf) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNAL",
                    "type": "recommended"
                },
                {
                    "name": "DYT25",
                    "type": "synonym"
                },
                {
                    "name": "GNAL",
                    "type": "synonym"
                },
                {
                    "name": "HG1O",
                    "type": "synonym"
                }
            ],
            "record_id": "P38405-1",
            "evidence": [
                {
                    "id": "615073",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615073"
                },
                {
                    "id": "0090055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08539-1",
            "uniprot_ac": "P08539",
            "uniprot_id": "GPA1_YEAST",
            "refseq_ac": "NP_011868",
            "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": "Guanine nucleotide-binding protein alpha-1 subunit",
                    "type": "recommended"
                },
                {
                    "name": "GP1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPA1",
                    "type": "recommended"
                },
                {
                    "name": "CDC70",
                    "type": "synonym"
                },
                {
                    "name": "DAC1",
                    "type": "synonym"
                },
                {
                    "name": "GPA1",
                    "type": "synonym"
                },
                {
                    "name": "SCG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08539-1",
            "evidence": [
                {
                    "id": "0090055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38406-1",
            "uniprot_ac": "P38406",
            "uniprot_id": "GNAL_RAT",
            "refseq_ac": "NP_001178765",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(olf) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "Olf-alpha protein (olfactory neuron-specific G protein)",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase-stimulating G alpha protein, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha activating activity polypeptide, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha stimulating, olfactory type",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(olf) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(olf), alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnal",
                    "type": "recommended"
                },
                {
                    "name": "Gnal",
                    "type": "synonym"
                },
                {
                    "name": "Golf",
                    "type": "synonym"
                },
                {
                    "name": "Olf",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305940",
                    "type": "synonym"
                }
            ],
            "record_id": "P38406-1",
            "evidence": [
                {
                    "id": "0090055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20354-1",
            "uniprot_ac": "P20354",
            "uniprot_id": "GNAS_DROME",
            "refseq_ac": "NP_001163283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein alpha s subunit",
                    "type": "recommended"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "CG2835-PD",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha s subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha subunit s, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "G protein salpha 60A",
                    "type": "synonym"
                },
                {
                    "name": "G-alpha s",
                    "type": "synonym"
                },
                {
                    "name": "Galphas-PD",
                    "type": "synonym"
                },
                {
                    "name": "Gs small G protein subunit",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide-binding protein G(s) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "stimulatory alpha subunit of G protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galphas",
                    "type": "recommended"
                },
                {
                    "name": "CG2835",
                    "type": "synonym"
                },
                {
                    "name": "DGsalpha",
                    "type": "synonym"
                },
                {
                    "name": "DGs",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2835",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2835",
                    "type": "synonym"
                },
                {
                    "name": "G-5alpha",
                    "type": "synonym"
                },
                {
                    "name": "G-alpha-60A",
                    "type": "synonym"
                },
                {
                    "name": "G-sa60A",
                    "type": "synonym"
                },
                {
                    "name": "G-salpha 60A",
                    "type": "synonym"
                },
                {
                    "name": "G-salpha60A",
                    "type": "synonym"
                },
                {
                    "name": "GNAS/L",
                    "type": "synonym"
                },
                {
                    "name": "GSalpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[S]]alpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[alphas]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[s]]-alpha-60A",
                    "type": "synonym"
                },
                {
                    "name": "G[[s]]alpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[s]]",
                    "type": "synonym"
                },
                {
                    "name": "Gaalpha",
                    "type": "synonym"
                },
                {
                    "name": "Galpha60A",
                    "type": "synonym"
                },
                {
                    "name": "GalphaS",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[s]]60A",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[s]]",
                    "type": "synonym"
                },
                {
                    "name": "Galphas60A",
                    "type": "synonym"
                },
                {
                    "name": "Galphas",
                    "type": "synonym"
                },
                {
                    "name": "Gs-alpha60A",
                    "type": "synonym"
                },
                {
                    "name": "Gs-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Gsalpha60A",
                    "type": "synonym"
                },
                {
                    "name": "Gsalpha60",
                    "type": "synonym"
                },
                {
                    "name": "Gsalpha",
                    "type": "synonym"
                },
                {
                    "name": "Gs",
                    "type": "synonym"
                },
                {
                    "name": "L",
                    "type": "synonym"
                },
                {
                    "name": "dG[[alphas]]",
                    "type": "synonym"
                },
                {
                    "name": "dgsalpha",
                    "type": "synonym"
                },
                {
                    "name": "dgs",
                    "type": "synonym"
                },
                {
                    "name": "galphas",
                    "type": "synonym"
                }
            ],
            "record_id": "P20354-1",
            "evidence": [
                {
                    "id": "0090055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94760-1",
            "uniprot_ac": "O94760",
            "uniprot_id": "DDAH1_HUMAN",
            "refseq_ac": "NP_001127917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N(G),N(G)-dimethylarginine dimethylaminohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.3.18",
                    "type": "synonym"
                },
                {
                    "name": "DDAH-1",
                    "type": "synonym"
                },
                {
                    "name": "DDAHI",
                    "type": "synonym"
                },
                {
                    "name": "Dimethylargininase-1",
                    "type": "synonym"
                },
                {
                    "name": "Dimethylarginine dimethylaminohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NG, NG-dimethylarginine dimethylaminohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "dimethylargininase-1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 16",
                    "type": "synonym"
                },
                {
                    "name": "n(G),N(G)-dimethylarginine dimethylaminohydrolase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDAH1",
                    "type": "recommended"
                },
                {
                    "name": "DDAH-1",
                    "type": "synonym"
                },
                {
                    "name": "DDAH1",
                    "type": "synonym"
                },
                {
                    "name": "DDAHI",
                    "type": "synonym"
                },
                {
                    "name": "DDAH",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-16",
                    "type": "synonym"
                }
            ],
            "record_id": "O94760-1",
            "evidence": [
                {
                    "id": "0090055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090055"
}