{
    "disease_id": "DOID:0081001",
    "recommended_name": {
        "id": "DOID:0081001",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081001",
        "name": "Cowden syndrome 5",
        "description": "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "name": "Cowden syndrome 5",
            "description": "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene."
        },
        {
            "id": "MONDO:0014047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "name": "Cowden disease caused by mutation in PIK3CA",
            "description": ""
        },
        {
            "id": "MONDO:0014047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "name": "Cowden syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0014047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "name": "Cowden syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "name": "PIK3CA Cowden disease",
            "description": ""
        },
        {
            "id": "MONDO:0014047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "name": "CWS5",
            "description": ""
        },
        {
            "id": "MIM:615108",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615108",
            "name": "Cowden syndrome 5",
            "description": "Cowden syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081001"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081001",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081001",
            "categories": []
        },
        {
            "id": "MONDO:0014047",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014047",
            "categories": []
        },
        {
            "id": "MIM:615108",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615108",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QAD7-1",
            "uniprot_ac": "F1QAD7",
            "uniprot_id": "F1QAD7_DANRE",
            "refseq_ac": "XP_009304452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pik3ca",
                    "type": "recommended"
                },
                {
                    "name": "pik3ca",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QAD7-1",
            "evidence": [
                {
                    "id": "0081001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42337-1",
            "uniprot_ac": "P42337",
            "uniprot_id": "PK3CA_MOUSE",
            "refseq_ac": "NP_032865",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kalpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit p110-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                },
                {
                    "name": "p110alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, catalytic, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase catalytic alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit p110-alpha",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3ca",
                    "type": "recommended"
                },
                {
                    "name": "6330412C24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pik3ca",
                    "type": "synonym"
                },
                {
                    "name": "caPI3K",
                    "type": "synonym"
                },
                {
                    "name": "p110alpha",
                    "type": "synonym"
                },
                {
                    "name": "p110",
                    "type": "synonym"
                }
            ],
            "record_id": "P42337-1",
            "evidence": [
                {
                    "id": "0081001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42336-1",
            "uniprot_ac": "P42336",
            "uniprot_id": "PK3CA_HUMAN",
            "refseq_ac": "NP_006209",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase p110 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kalpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide 3-kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit p110-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                },
                {
                    "name": "mutant phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "p110alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, catalytic, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide 3-kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, catalytic, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit p110-alpha",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIK3CA",
                    "type": "recommended"
                },
                {
                    "name": "CCM4",
                    "type": "synonym"
                },
                {
                    "name": "CLAPO",
                    "type": "synonym"
                },
                {
                    "name": "CLOVE",
                    "type": "synonym"
                },
                {
                    "name": "CWS5",
                    "type": "synonym"
                },
                {
                    "name": "HMH",
                    "type": "synonym"
                },
                {
                    "name": "MCAP",
                    "type": "synonym"
                },
                {
                    "name": "MCMTC",
                    "type": "synonym"
                },
                {
                    "name": "MCM",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K",
                    "type": "synonym"
                },
                {
                    "name": "PIK3CA",
                    "type": "synonym"
                },
                {
                    "name": "p110-alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P42336-1",
            "evidence": [
                {
                    "id": "615108",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615108"
                },
                {
                    "id": "0081001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K344-1",
            "uniprot_ac": "A0A0G2K344",
            "uniprot_id": "PK3CA_RAT",
            "refseq_ac": "NP_596890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kalpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit p110-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                },
                {
                    "name": "p110alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, catalytic, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase catalytic alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit p110-alpha",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase PIK3CA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3ca",
                    "type": "recommended"
                },
                {
                    "name": "Pik3ca",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K344-1",
            "evidence": [
                {
                    "id": "0081001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081001"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081001"
}