{
    "disease_id": "DOID:0111048",
    "recommended_name": {
        "id": "DOID:0111048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111048",
        "name": "platelet-type bleeding disorder 19",
        "description": "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111048",
            "name": "BDPLT19",
            "description": ""
        },
        {
            "id": "DOID:0111048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111048",
            "name": "severe autosomal recessive macrothrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "platelet-type bleeding disorder 19",
            "description": "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene."
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "BDPLT19",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "PRKACG isolated hereditary giant platelet disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "isolated hereditary giant platelet disorder caused by mutation in PRKACG",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "severe autosomal recessive macrothrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "bleeding disorder, platelet-type, 19",
            "description": ""
        },
        {
            "id": "MIM:616176",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616176",
            "name": "Bleeding disorder, platelet-type, 19",
            "description": "Bleeding disorder, platelet-type, 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111048",
            "categories": []
        },
        {
            "id": "MONDO:0014518",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "categories": []
        },
        {
            "id": "MIM:616176",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616176",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P22612-1",
            "uniprot_ac": "P22612",
            "uniprot_id": "KAPCG_HUMAN",
            "refseq_ac": "NP_002723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase catalytic subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.11",
                    "type": "synonym"
                },
                {
                    "name": "PKA C-gamma",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase catalytic subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, catalytic, gamma",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, gamma catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "serine(threonine) protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKACG",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT19",
                    "type": "synonym"
                },
                {
                    "name": "KAPG",
                    "type": "synonym"
                },
                {
                    "name": "PKACg",
                    "type": "synonym"
                },
                {
                    "name": "PRKACG",
                    "type": "synonym"
                }
            ],
            "record_id": "P22612-1",
            "evidence": [
                {
                    "id": "616176",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616176"
                },
                {
                    "id": "0111048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06244-1",
            "uniprot_ac": "P06244",
            "uniprot_id": "KAPA_YEAST",
            "refseq_ac": "NP_012371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.11",
                    "type": "synonym"
                },
                {
                    "name": "CDC25-suppressing protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "PK-25",
                    "type": "synonym"
                },
                {
                    "name": "PKA 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase catalytic subunit TPK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPK1",
                    "type": "recommended"
                },
                {
                    "name": "J0541",
                    "type": "synonym"
                },
                {
                    "name": "PKA1",
                    "type": "synonym"
                },
                {
                    "name": "SRA3",
                    "type": "synonym"
                },
                {
                    "name": "TPK1",
                    "type": "synonym"
                }
            ],
            "record_id": "P06244-1",
            "evidence": [
                {
                    "id": "0111048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05986-1",
            "uniprot_ac": "P05986",
            "uniprot_id": "KAPC_YEAST",
            "refseq_ac": "NP_012755",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.11",
                    "type": "synonym"
                },
                {
                    "name": "PKA 3",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase catalytic subunit TPK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPK3",
                    "type": "recommended"
                },
                {
                    "name": "PKA3",
                    "type": "synonym"
                },
                {
                    "name": "TPK3",
                    "type": "synonym"
                },
                {
                    "name": "YKL630",
                    "type": "synonym"
                }
            ],
            "record_id": "P05986-1",
            "evidence": [
                {
                    "id": "0111048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06245-1",
            "uniprot_ac": "P06245",
            "uniprot_id": "KAPB_YEAST",
            "refseq_ac": "NP_015121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-dependent protein kinase type 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.11",
                    "type": "synonym"
                },
                {
                    "name": "PKA 2",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase catalytic subunit TPK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPK2",
                    "type": "recommended"
                },
                {
                    "name": "PKA2",
                    "type": "synonym"
                },
                {
                    "name": "PKA3",
                    "type": "synonym"
                },
                {
                    "name": "TPK2",
                    "type": "synonym"
                },
                {
                    "name": "YKR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P06245-1",
            "evidence": [
                {
                    "id": "0111048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA47-1",
            "uniprot_ac": "Q9VA47",
            "uniprot_id": "Q9VA47_DROME",
            "refseq_ac": "NP_651819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12069-PA",
                    "type": "synonym"
                },
                {
                    "name": "PKA-like",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12069",
                    "type": "recommended"
                },
                {
                    "name": "CG12069",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12069",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12069",
                    "type": "synonym"
                },
                {
                    "name": "Pka-like",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111048",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12370-1",
            "uniprot_ac": "P12370",
            "uniprot_id": "KAPC1_DROME",
            "refseq_ac": "NP_476977",
            "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 catalytic subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.11",
                    "type": "synonym"
                },
                {
                    "name": "CG4379-PD",
                    "type": "synonym"
                },
                {
                    "name": "Costal-1",
                    "type": "synonym"
                },
                {
                    "name": "PKA C",
                    "type": "synonym"
                },
                {
                    "name": "PKA catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "Pka-C1-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase DC0",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "catalytic subunit of PKA",
                    "type": "synonym"
                },
                {
                    "name": "catalytic subunit of cAMP-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "costal",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase A",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, catalytic subunit 1, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pka-C1",
                    "type": "recommended"
                },
                {
                    "name": "6353",
                    "type": "synonym"
                },
                {
                    "name": "CG4379",
                    "type": "synonym"
                },
                {
                    "name": "CdkA",
                    "type": "synonym"
                },
                {
                    "name": "Cos-1",
                    "type": "synonym"
                },
                {
                    "name": "Cos1",
                    "type": "synonym"
                },
                {
                    "name": "Cos",
                    "type": "synonym"
                },
                {
                    "name": "C",
                    "type": "synonym"
                },
                {
                    "name": "DC0",
                    "type": "synonym"
                },
                {
                    "name": "DCO",
                    "type": "synonym"
                },
                {
                    "name": "Dc0",
                    "type": "synonym"
                },
                {
                    "name": "Dco",
                    "type": "synonym"
                },
                {
                    "name": "Dcpk",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4379",
                    "type": "synonym"
                },
                {
                    "name": "PKA CI",
                    "type": "synonym"
                },
                {
                    "name": "PKA Cl",
                    "type": "synonym"
                },
                {
                    "name": "PKA-C1",
                    "type": "synonym"
                },
                {
                    "name": "PKA-C",
                    "type": "synonym"
                },
                {
                    "name": "PKAC1",
                    "type": "synonym"
                },
                {
                    "name": "PKAcA",
                    "type": "synonym"
                },
                {
                    "name": "PKAc",
                    "type": "synonym"
                },
                {
                    "name": "PKA",
                    "type": "synonym"
                },
                {
                    "name": "Pka-C1",
                    "type": "synonym"
                },
                {
                    "name": "Pka-C",
                    "type": "synonym"
                },
                {
                    "name": "PkaC1",
                    "type": "synonym"
                },
                {
                    "name": "Pka",
                    "type": "synonym"
                },
                {
                    "name": "cos1",
                    "type": "synonym"
                },
                {
                    "name": "dPKA",
                    "type": "synonym"
                },
                {
                    "name": "dc0",
                    "type": "synonym"
                },
                {
                    "name": "dcO",
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                },
                {
                    "name": "dco",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01272",
                    "type": "synonym"
                },
                {
                    "name": "l(2)cos[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s4402",
                    "type": "synonym"
                },
                {
                    "name": "pKA",
                    "type": "synonym"
                },
                {
                    "name": "pkA",
                    "type": "synonym"
                },
                {
                    "name": "pka C1",
                    "type": "synonym"
                },
                {
                    "name": "pka-C1",
                    "type": "synonym"
                },
                {
                    "name": "pka-c1",
                    "type": "synonym"
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                {
                    "name": "pka",
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                }
            ],
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                {
                    "id": "0111048",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16911-1",
            "uniprot_ac": "P16911",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "cAMP-dependent protein kinase catalytic subunit 2",
                    "type": "recommended"
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                    "name": "2.7.11.1",
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                    "name": "CG12066-PB",
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                {
                    "name": "Pka-C2-PB",
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                {
                    "name": "Protein kinase DC1",
                    "type": "synonym"
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                {
                    "name": "cAMP-dependent protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent protein kinase type II",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cAMP-dependent, catalytic subunit 2, isoform B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pka-C2",
                    "type": "recommended"
                },
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                    "name": "CG12066",
                    "type": "synonym"
                },
                {
                    "name": "CdkB",
                    "type": "synonym"
                },
                {
                    "name": "DC1a",
                    "type": "synonym"
                },
                {
                    "name": "DC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12066",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12066",
                    "type": "synonym"
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                {
                    "name": "PKA C2",
                    "type": "synonym"
                },
                {
                    "name": "PKA-C2",
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                },
                {
                    "name": "PKAC2",
                    "type": "synonym"
                },
                {
                    "name": "PKA",
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                },
                {
                    "name": "Pka-C2",
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                }
            ],
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                {
                    "id": "0111048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111048"
}