{
    "disease_id": "DOID:0111909",
    "recommended_name": {
        "id": "DOID:0111909",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111909",
        "name": "autosomal dominant thrombophilia due to protein C deficiency",
        "description": "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111909",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111909",
            "name": "THPH3",
            "description": ""
        },
        {
            "id": "DOID:0111909",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111909",
            "name": "autosomal dominant PROC deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111909",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111909",
            "name": "autosomal dominant protein C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008316",
            "name": "thrombophilia due to protein C deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008316",
            "name": "thrombophilia 3 due to protein C deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008316",
            "name": "thrombophilia due to protein C deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008316",
            "name": "THPH3",
            "description": ""
        },
        {
            "id": "MIM:176860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176860",
            "name": "Thrombophilia due to protein C deficiency, autosomal dominant",
            "description": "Thrombophilia due to protein C deficiency, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111909"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111909",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111909",
            "categories": []
        },
        {
            "id": "MONDO:0008316",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008316",
            "categories": []
        },
        {
            "id": "MIM:176860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/176860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P33587-1",
            "uniprot_ac": "P33587",
            "uniprot_id": "PROC_MOUSE",
            "refseq_ac": "NP_001036232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein C",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.69",
                    "type": "synonym"
                },
                {
                    "name": "Anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "Autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "Blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "inactivator of coagulation factors Va, VIII",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Proc",
                    "type": "recommended"
                },
                {
                    "name": "PC",
                    "type": "synonym"
                },
                {
                    "name": "Proc",
                    "type": "synonym"
                }
            ],
            "record_id": "P33587-1",
            "evidence": [
                {
                    "id": "0111909",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111909"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04070-1",
            "uniprot_ac": "P04070",
            "uniprot_id": "PROC_HUMAN",
            "refseq_ac": "NP_000303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein C",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.69",
                    "type": "synonym"
                },
                {
                    "name": "Anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "Autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "Blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "Protein C-Nagoya",
                    "type": "synonym"
                },
                {
                    "name": "activated protein C",
                    "type": "synonym"
                },
                {
                    "name": "anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "prepro-protein C",
                    "type": "synonym"
                },
                {
                    "name": "type I protein C",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C isoform 10 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PROC",
                    "type": "recommended"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "PC",
                    "type": "synonym"
                },
                {
                    "name": "PROC1",
                    "type": "synonym"
                },
                {
                    "name": "PROC",
                    "type": "synonym"
                },
                {
                    "name": "THPH3",
                    "type": "synonym"
                },
                {
                    "name": "THPH4",
                    "type": "synonym"
                }
            ],
            "record_id": "P04070-1",
            "evidence": [
                {
                    "id": "176860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/176860"
                },
                {
                    "id": "0111909",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111909"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31394-1",
            "uniprot_ac": "P31394",
            "uniprot_id": "PROC_RAT",
            "refseq_ac": "NP_036935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein C",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.69",
                    "type": "synonym"
                },
                {
                    "name": "Anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "Autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "Blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C precursor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Proc",
                    "type": "recommended"
                },
                {
                    "name": "Proc",
                    "type": "synonym"
                }
            ],
            "record_id": "P31394-1",
            "evidence": [
                {
                    "id": "0111909",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111909"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111909"
}