{
    "disease_id": "DOID:0050471",
    "recommended_name": {
        "id": "DOID:0050471",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050471",
        "name": "Carney complex",
        "description": "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity."
    },
    "synonyms": [
        {
            "id": "DOID:0050471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "name": "Carney Complex, Type 1",
            "description": ""
        },
        {
            "id": "DOID:0050471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "name": "Carney Complex, Type 2",
            "description": ""
        },
        {
            "id": "DOID:0050471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "name": "Carney Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "name": "Carney complex variant",
            "description": ""
        },
        {
            "id": "DOID:0050471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "name": "LAMB Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "name": "NAME Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008057",
            "name": "Carney complex, type 1",
            "description": "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene."
        },
        {
            "id": "MONDO:0008057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008057",
            "name": "Carney complex caused by mutation in PRKAR1A",
            "description": ""
        },
        {
            "id": "MONDO:0008057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008057",
            "name": "Carney complex, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008057",
            "name": "PRKAR1A Carney complex",
            "description": ""
        },
        {
            "id": "MONDO:0008057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008057",
            "name": "CNC1",
            "description": ""
        },
        {
            "id": "MONDO:0011525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011525",
            "name": "Carney complex type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011525",
            "name": "CNC2",
            "description": ""
        },
        {
            "id": "MONDO:0011525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011525",
            "name": "Carney Myxoma-endocrine Complex, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011525",
            "name": "Carney complex, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011525",
            "name": "Carney complex, type II",
            "description": ""
        },
        {
            "id": "MONDO:0012137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012137",
            "name": "Carney complex - trismus - pseudocamptodactyly syndrome",
            "description": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."
        },
        {
            "id": "MONDO:0012137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012137",
            "name": "Carney complex variant",
            "description": ""
        },
        {
            "id": "MIM:160980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/160980",
            "name": "Carney complex 1",
            "description": "Carney complex 1"
        },
        {
            "id": "MIM:608837",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608837",
            "name": "Carney complex variant",
            "description": "Carney complex variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050471"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050471",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050471",
            "categories": []
        },
        {
            "id": "MONDO:0008057",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008057",
            "categories": []
        },
        {
            "id": "MONDO:0011525",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011525",
            "categories": []
        },
        {
            "id": "MONDO:0012137",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012137",
            "categories": []
        },
        {
            "id": "MIM:160980",
            "database": "MIM",
            "url": "https://www.omim.org/entry/160980",
            "categories": []
        },
        {
            "id": "MIM:608837",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608837",
            "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": "0050471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050471"
                }
            ]
        },
        {
            "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": "0050471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050471"
                }
            ]
        },
        {
            "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": "160980",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/160980"
                },
                {
                    "id": "0050471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13535-1",
            "uniprot_ac": "P13535",
            "uniprot_id": "MYH8_HUMAN",
            "refseq_ac": "NP_002463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-8",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-perinatal",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "fetal-myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myHC-perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 8, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 8, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYH8",
                    "type": "recommended"
                },
                {
                    "name": "DA7",
                    "type": "synonym"
                },
                {
                    "name": "MYH8",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-peri",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-pn",
                    "type": "synonym"
                },
                {
                    "name": "gtMHC-F",
                    "type": "synonym"
                }
            ],
            "record_id": "P13535-1",
            "evidence": [
                {
                    "id": "608837",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608837"
                }
            ]
        },
        {
            "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": "0050471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050471"
                }
            ]
        },
        {
            "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": "0050471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050471"
                }
            ]
        },
        {
            "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": "0050471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050471"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050471"
}