{
    "disease_id": "DOID:0070546",
    "recommended_name": {
        "id": "DOID:0070546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070546",
        "name": "primary pigmented nodular adrenocortical disease 1",
        "description": "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070546",
            "name": "PPNAD1",
            "description": ""
        },
        {
            "id": "MONDO:0012509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "name": "pigmented nodular adrenocortical disease, primary, 1",
            "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene."
        },
        {
            "id": "MONDO:0012509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "name": "PRKAR1A primary pigmented nodular adrenocortical disease",
            "description": ""
        },
        {
            "id": "MONDO:0012509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "name": "pigmented nodular adrenocortical disease, primary, 1",
            "description": ""
        },
        {
            "id": "MONDO:0012509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "name": "pigmented nodular adrenocortical disease, primary, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "name": "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A",
            "description": ""
        },
        {
            "id": "MONDO:0012509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "name": "PPNAD1",
            "description": ""
        },
        {
            "id": "MIM:610489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610489",
            "name": "Primary pigmented nodular adrenocortical disease 1",
            "description": "Primary pigmented nodular adrenocortical disease 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070546"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070546",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070546",
            "categories": []
        },
        {
            "id": "MONDO:0012509",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012509",
            "categories": []
        },
        {
            "id": "MIM:610489",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610489",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5I0F6-1",
            "uniprot_ac": "Q5I0F6",
            "uniprot_id": "KAP0_DANRE",
            "refseq_ac": "NP_001009989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkar1aa",
                    "type": "recommended"
                },
                {
                    "name": "im:7047729",
                    "type": "synonym"
                },
                {
                    "name": "prkar1aa",
                    "type": "synonym"
                },
                {
                    "name": "prkar1a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92515",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0F6-1",
            "evidence": [
                {
                    "id": "0070546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBC7-1",
            "uniprot_ac": "Q9DBC7",
            "uniprot_id": "KAP0_MOUSE",
            "refseq_ac": "NP_001300902",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP dependent regulatory, type 1, alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkar1a",
                    "type": "recommended"
                },
                {
                    "name": "1300018C22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Prkar1a",
                    "type": "synonym"
                },
                {
                    "name": "RIalpha",
                    "type": "synonym"
                },
                {
                    "name": "Tse-1",
                    "type": "synonym"
                },
                {
                    "name": "Tse1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBC7-1",
            "evidence": [
                {
                    "id": "0070546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10644-1",
            "uniprot_ac": "P10644",
            "uniprot_id": "KAP0_HUMAN",
            "refseq_ac": "NP_001263218",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "Carney complex type 1",
                    "type": "synonym"
                },
                {
                    "name": "TSE1",
                    "type": "synonym"
                },
                {
                    "name": "Tissue-specific extinguisher 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase regulatory subunit RIalpha",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory chain",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase A type 1a regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, regulatory subunit type I alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, regulatory, type I, alpha",
                    "type": "synonym"
                },
                {
                    "name": "tissue-specific extinguisher 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKAR1A",
                    "type": "recommended"
                },
                {
                    "name": "ACRDYS1",
                    "type": "synonym"
                },
                {
                    "name": "ADOHR",
                    "type": "synonym"
                },
                {
                    "name": "CAR",
                    "type": "synonym"
                },
                {
                    "name": "CNC1",
                    "type": "synonym"
                },
                {
                    "name": "CNC",
                    "type": "synonym"
                },
                {
                    "name": "PKR1",
                    "type": "synonym"
                },
                {
                    "name": "PPNAD1",
                    "type": "synonym"
                },
                {
                    "name": "PRKAR1A",
                    "type": "synonym"
                },
                {
                    "name": "PRKAR1",
                    "type": "synonym"
                },
                {
                    "name": "Prkar1alpha",
                    "type": "synonym"
                },
                {
                    "name": "TSE1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10644-1",
            "evidence": [
                {
                    "id": "610489",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610489"
                },
                {
                    "id": "0070546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09456-1",
            "uniprot_ac": "P09456",
            "uniprot_id": "KAP0_RAT",
            "refseq_ac": "NP_037313",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase cAMP-dependent type 1 regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, regulatory subunit type I alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, regulatory, type I, alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkar1a",
                    "type": "recommended"
                },
                {
                    "name": "Prkar1a",
                    "type": "synonym"
                },
                {
                    "name": "RIIA",
                    "type": "synonym"
                }
            ],
            "record_id": "P09456-1",
            "evidence": [
                {
                    "id": "0070546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16905-1",
            "uniprot_ac": "P16905",
            "uniprot_id": "KAPR1_DROME",
            "refseq_ac": "NP_001014593",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type I regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG42341-PL",
                    "type": "synonym"
                },
                {
                    "name": "DRI class I to class IV",
                    "type": "synonym"
                },
                {
                    "name": "Pka-R1-PL",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase R1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase A",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, regulatory subunit type 1, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "regulatory subunit of PKA",
                    "type": "synonym"
                },
                {
                    "name": "regulatory subunit of protein kinase A",
                    "type": "synonym"
                },
                {
                    "name": "type I regulatory subunit of cAMP-dependent protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pka-R1",
                    "type": "recommended"
                },
                {
                    "name": "18304",
                    "type": "synonym"
                },
                {
                    "name": "CG12452",
                    "type": "synonym"
                },
                {
                    "name": "CG18677",
                    "type": "synonym"
                },
                {
                    "name": "CG3263",
                    "type": "synonym"
                },
                {
                    "name": "CG42341",
                    "type": "synonym"
                },
                {
                    "name": "CdkR",
                    "type": "synonym"
                },
                {
                    "name": "DRI",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42341",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42341",
                    "type": "synonym"
                },
                {
                    "name": "PKA R1",
                    "type": "synonym"
                },
                {
                    "name": "PKA-R1",
                    "type": "synonym"
                },
                {
                    "name": "PKA-RI",
                    "type": "synonym"
                },
                {
                    "name": "PKARI",
                    "type": "synonym"
                },
                {
                    "name": "PKAR",
                    "type": "synonym"
                },
                {
                    "name": "PKAi",
                    "type": "synonym"
                },
                {
                    "name": "PKAr",
                    "type": "synonym"
                },
                {
                    "name": "PKA",
                    "type": "synonym"
                },
                {
                    "name": "PKa-R1",
                    "type": "synonym"
                },
                {
                    "name": "Pka-R1",
                    "type": "synonym"
                },
                {
                    "name": "Pka-RI",
                    "type": "synonym"
                },
                {
                    "name": "PkaR",
                    "type": "synonym"
                },
                {
                    "name": "RI",
                    "type": "synonym"
                },
                {
                    "name": "dPKA-RI",
                    "type": "synonym"
                },
                {
                    "name": "dr[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "pKA",
                    "type": "synonym"
                },
                {
                    "name": "pkA",
                    "type": "synonym"
                },
                {
                    "name": "pka-R1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16905-1",
            "evidence": [
                {
                    "id": "0070546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29322-1",
            "uniprot_ac": "P29322",
            "uniprot_id": "EPHA8_HUMAN",
            "refseq_ac": "NP_001006944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "EK3",
                    "type": "synonym"
                },
                {
                    "name": "EPH- and ELK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "EPH- and ELK-related tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "EPH-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor EEK",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 8 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 8",
                    "type": "synonym"
                },
                {
                    "name": "hEK3",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyaryl-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor EEK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosylprotein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPHA8",
                    "type": "recommended"
                },
                {
                    "name": "EEK",
                    "type": "synonym"
                },
                {
                    "name": "EK3",
                    "type": "synonym"
                },
                {
                    "name": "EPHA8",
                    "type": "synonym"
                },
                {
                    "name": "HEK3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1459",
                    "type": "synonym"
                }
            ],
            "record_id": "P29322-1",
            "evidence": [
                {
                    "id": "0070546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070546"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070546"
}