{
    "disease_id": "DOID:0111901",
    "recommended_name": {
        "id": "DOID:0111901",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111901",
        "name": "heparin cofactor II deficiency",
        "description": "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111901",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111901",
            "name": "HCF 2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111901",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111901",
            "name": "HCF II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111901",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111901",
            "name": "THPH10",
            "description": ""
        },
        {
            "id": "DOID:0111901",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111901",
            "name": "thrombophilia due to heparin cofactor II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012876",
            "name": "heparin cofactor 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012876",
            "name": "heparin cofactor 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012876",
            "name": "thrombophilia 10 due to heparin cofactor II deficiency",
            "description": ""
        },
        {
            "id": "MIM:612356",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612356",
            "name": "Thrombophilia due to heparin cofactor 2 deficiency",
            "description": "Thrombophilia due to heparin cofactor 2 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111901"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111901",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111901",
            "categories": []
        },
        {
            "id": "MONDO:0012876",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012876",
            "categories": []
        },
        {
            "id": "MIM:612356",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612356",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B559-1",
            "uniprot_ac": "A0ACD6B559",
            "uniprot_id": "A0ACD6B559_DANRE",
            "refseq_ac": "NP_878300",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparin cofactor 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Heparin cofactor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serpind1",
                    "type": "recommended"
                },
                {
                    "name": "HCII",
                    "type": "synonym"
                },
                {
                    "name": "serpind1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B559-1",
            "evidence": [
                {
                    "id": "0111901",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111901"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49182-1",
            "uniprot_ac": "P49182",
            "uniprot_id": "HEP2_MOUSE",
            "refseq_ac": "NP_001317976",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparin cofactor 2",
                    "type": "recommended"
                },
                {
                    "name": "HC-II",
                    "type": "synonym"
                },
                {
                    "name": "Heparin cofactor II",
                    "type": "synonym"
                },
                {
                    "name": "Protease inhibitor leuserpin-2",
                    "type": "synonym"
                },
                {
                    "name": "Serpin D1",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor II",
                    "type": "synonym"
                },
                {
                    "name": "protease inhibitor leuserpin-2",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin D1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpind1",
                    "type": "recommended"
                },
                {
                    "name": "HC-II",
                    "type": "synonym"
                },
                {
                    "name": "HCII",
                    "type": "synonym"
                },
                {
                    "name": "Hcf2",
                    "type": "synonym"
                },
                {
                    "name": "Hcii",
                    "type": "synonym"
                },
                {
                    "name": "Serpind1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49182-1",
            "evidence": [
                {
                    "id": "0111901",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111901"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05546-1",
            "uniprot_ac": "P05546",
            "uniprot_id": "HEP2_HUMAN",
            "refseq_ac": "NP_000176",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparin cofactor 2",
                    "type": "recommended"
                },
                {
                    "name": "HC-II",
                    "type": "synonym"
                },
                {
                    "name": "HLS2",
                    "type": "synonym"
                },
                {
                    "name": "Heparin cofactor II",
                    "type": "synonym"
                },
                {
                    "name": "Protease inhibitor leuserpin-2",
                    "type": "synonym"
                },
                {
                    "name": "Serpin D1",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2",
                    "type": "synonym"
                },
                {
                    "name": "leuserpin 2",
                    "type": "synonym"
                },
                {
                    "name": "protease inhibitor leuserpin-2",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin D1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade D (heparin cofactor), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERPIND1",
                    "type": "recommended"
                },
                {
                    "name": "D22S673",
                    "type": "synonym"
                },
                {
                    "name": "HC2",
                    "type": "synonym"
                },
                {
                    "name": "HCF2",
                    "type": "synonym"
                },
                {
                    "name": "HCII",
                    "type": "synonym"
                },
                {
                    "name": "HLS2",
                    "type": "synonym"
                },
                {
                    "name": "LS2",
                    "type": "synonym"
                },
                {
                    "name": "SERPIND1",
                    "type": "synonym"
                },
                {
                    "name": "THPH10",
                    "type": "synonym"
                }
            ],
            "record_id": "P05546-1",
            "evidence": [
                {
                    "id": "612356",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612356"
                },
                {
                    "id": "0111901",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111901"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64268-1",
            "uniprot_ac": "Q64268",
            "uniprot_id": "HEP2_RAT",
            "refseq_ac": "NP_077358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparin cofactor 2",
                    "type": "recommended"
                },
                {
                    "name": "HC-II",
                    "type": "synonym"
                },
                {
                    "name": "Heparin cofactor II",
                    "type": "synonym"
                },
                {
                    "name": "Protease inhibitor leuserpin-2",
                    "type": "synonym"
                },
                {
                    "name": "Serpin D1",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor 2",
                    "type": "synonym"
                },
                {
                    "name": "heparin cofactor II",
                    "type": "synonym"
                },
                {
                    "name": "leuserpin 2",
                    "type": "synonym"
                },
                {
                    "name": "protease inhibitor leuserpin-2",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) peptidase inhibitor, clade D, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade D, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin D1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade D (heparin cofactor), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpind1",
                    "type": "recommended"
                },
                {
                    "name": "Hcf2",
                    "type": "synonym"
                },
                {
                    "name": "Serpind1",
                    "type": "synonym"
                },
                {
                    "name": "rls2var1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64268-1",
            "evidence": [
                {
                    "id": "0111901",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111901"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH46-1",
            "uniprot_ac": "Q9VH46",
            "uniprot_id": "Q9VH46_DROME",
            "refseq_ac": "NP_649965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12807-PA",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 85F",
                    "type": "synonym"
                },
                {
                    "name": "Spn85F-PA",
                    "type": "synonym"
                },
                {
                    "name": "serpin 85F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spn85F",
                    "type": "recommended"
                },
                {
                    "name": "CG12807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12807",
                    "type": "synonym"
                },
                {
                    "name": "Spn85F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH46-1",
            "evidence": [
                {
                    "id": "0111901",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111901"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6I3-1",
            "uniprot_ac": "A1Z6I3",
            "uniprot_id": "A1Z6I3_DROME",
            "refseq_ac": "NP_610188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG43366-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG43366",
                    "type": "recommended"
                },
                {
                    "name": "CG12551",
                    "type": "synonym"
                },
                {
                    "name": "CG14470",
                    "type": "synonym"
                },
                {
                    "name": "CG43366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43366",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6I3-1",
            "evidence": [
                {
                    "id": "0111901",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111901"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111901"
}