{
    "disease_id": "DOID:0111623",
    "recommended_name": {
        "id": "DOID:0111623",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111623",
        "name": "ACTH-independent macronodular adrenal hyperplasia 1",
        "description": "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111623",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111623",
            "name": "AIMAH1",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "ACTH-independent macronodular adrenal hyperplasia 1",
            "description": "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the GNAS1 gene."
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "ACTH-independent macronodular adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "ACTH-independent macronodular adrenal hyperplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "ACTH-independent macronodular adrenocortical hyperplasia",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "AIMAH1",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "Cushing syndrome, adrenal, due to AIMAH",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MONDO:0020735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "name": "corticotropin-independent macronodular adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MIM:219080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219080",
            "name": "ACTH-independent macronodular adrenal hyperplasia 1",
            "description": "ACTH-independent macronodular adrenal hyperplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111623"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111623",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111623",
            "categories": []
        },
        {
            "id": "MONDO:0020735",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020735",
            "categories": []
        },
        {
            "id": "MIM:219080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/219080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PZ01-1",
            "uniprot_ac": "A0A8M1PZ01",
            "uniprot_id": "A0A8M1PZ01_DANRE",
            "refseq_ac": "NP_001429019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(s) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "GNAS complex locus isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Galpha s",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnas",
                    "type": "recommended"
                },
                {
                    "name": "gnas",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PZ01-1",
            "evidence": [
                {
                    "id": "0111623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6R0H7-1",
            "uniprot_ac": "Q6R0H7",
            "uniprot_id": "GNAS1_MOUSE",
            "refseq_ac": "NP_034439",
            "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(s) subunit alpha isoforms XLas",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "Extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus",
                    "type": "synonym"
                },
                {
                    "name": "Gs alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "XLalphas",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "alternative gene product encoded by XL-exon",
                    "type": "synonym"
                },
                {
                    "name": "extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine secretory protein 55",
                    "type": "synonym"
                },
                {
                    "name": "protein ALEX",
                    "type": "synonym"
                },
                {
                    "name": "protein GNAS isoform XLas",
                    "type": "synonym"
                },
                {
                    "name": "secretogranin VI",
                    "type": "synonym"
                },
                {
                    "name": "stimulatory G-protein alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnas",
                    "type": "recommended"
                },
                {
                    "name": "5530400H20Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930027G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130027O20Rik",
                    "type": "synonym"
                },
                {
                    "name": "GPSA",
                    "type": "synonym"
                },
                {
                    "name": "GSP",
                    "type": "synonym"
                },
                {
                    "name": "Galphas",
                    "type": "synonym"
                },
                {
                    "name": "Gnas1",
                    "type": "synonym"
                },
                {
                    "name": "Gnasxl",
                    "type": "synonym"
                },
                {
                    "name": "Gnas",
                    "type": "synonym"
                },
                {
                    "name": "Gs-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Gsa",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-5546",
                    "type": "synonym"
                },
                {
                    "name": "Nesp55",
                    "type": "synonym"
                },
                {
                    "name": "Nespl",
                    "type": "synonym"
                },
                {
                    "name": "Nesp",
                    "type": "synonym"
                },
                {
                    "name": "Oed-Sml",
                    "type": "synonym"
                },
                {
                    "name": "Oedsml",
                    "type": "synonym"
                },
                {
                    "name": "P1",
                    "type": "synonym"
                },
                {
                    "name": "P2",
                    "type": "synonym"
                },
                {
                    "name": "P3",
                    "type": "synonym"
                },
                {
                    "name": "PHP1A",
                    "type": "synonym"
                },
                {
                    "name": "PHP1B",
                    "type": "synonym"
                },
                {
                    "name": "POH",
                    "type": "synonym"
                },
                {
                    "name": "SCG6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6R0H7-1",
            "evidence": [
                {
                    "id": "0111623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JWF2-1",
            "uniprot_ac": "Q5JWF2",
            "uniprot_id": "GNAS1_HUMAN",
            "refseq_ac": "NP_536350",
            "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(s) subunit alpha isoforms XLas",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "Extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "G protein subunit alpha S",
                    "type": "synonym"
                },
                {
                    "name": "XLalphas",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "alternative gene product encoded by XL-exon",
                    "type": "synonym"
                },
                {
                    "name": "extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "protein ALEX",
                    "type": "synonym"
                },
                {
                    "name": "protein GNAS isoform XLas",
                    "type": "synonym"
                },
                {
                    "name": "secretogranin VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNAS",
                    "type": "recommended"
                },
                {
                    "name": "AHO",
                    "type": "synonym"
                },
                {
                    "name": "AIMAH1",
                    "type": "synonym"
                },
                {
                    "name": "C20orf45",
                    "type": "synonym"
                },
                {
                    "name": "GNAS1",
                    "type": "synonym"
                },
                {
                    "name": "GNAS",
                    "type": "synonym"
                },
                {
                    "name": "GPSA",
                    "type": "synonym"
                },
                {
                    "name": "GSA",
                    "type": "synonym"
                },
                {
                    "name": "GSP",
                    "type": "synonym"
                },
                {
                    "name": "NESP",
                    "type": "synonym"
                },
                {
                    "name": "PITA3",
                    "type": "synonym"
                },
                {
                    "name": "POH",
                    "type": "synonym"
                },
                {
                    "name": "SCG6",
                    "type": "synonym"
                },
                {
                    "name": "SgVI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JWF2-1",
            "evidence": [
                {
                    "id": "219080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/219080"
                },
                {
                    "id": "0111623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63803-1",
            "uniprot_ac": "Q63803",
            "uniprot_id": "GNAS1_RAT",
            "refseq_ac": "",
            "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(s) subunit alpha isoforms XLas",
                    "type": "recommended"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "Extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "G-alpha-8",
                    "type": "synonym"
                },
                {
                    "name": "XLalphas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnas",
                    "type": "recommended"
                },
                {
                    "name": "Gnas1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63803-1",
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                {
                    "id": "0111623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111623"
                }
            ]
        },
        {
            "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": "0111623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95865-1",
            "uniprot_ac": "O95865",
            "uniprot_id": "DDAH2_HUMAN",
            "refseq_ac": "NP_001289936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative hydrolase DDAH2",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DDAH-2",
                    "type": "synonym"
                },
                {
                    "name": "DDAHII",
                    "type": "synonym"
                },
                {
                    "name": "Inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "Inactive dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein G6a",
                    "type": "synonym"
                },
                {
                    "name": "S-phase protein",
                    "type": "synonym"
                },
                {
                    "name": "dimethylargininase-2",
                    "type": "synonym"
                },
                {
                    "name": "dimethylarginine dimethylaminohydrolase II",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 277",
                    "type": "synonym"
                },
                {
                    "name": "inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "n(G),N(G)-dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "putative hydrolase DDAH2",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 54e",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDAH2",
                    "type": "recommended"
                },
                {
                    "name": "DDAH2",
                    "type": "synonym"
                },
                {
                    "name": "DDAHII",
                    "type": "synonym"
                },
                {
                    "name": "DDAH",
                    "type": "synonym"
                },
                {
                    "name": "G6A",
                    "type": "synonym"
                },
                {
                    "name": "G6a",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-277",
                    "type": "synonym"
                },
                {
                    "name": "NG30",
                    "type": "synonym"
                }
            ],
            "record_id": "O95865-1",
            "evidence": [
                {
                    "id": "0111623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111623"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111623"
}