{
    "disease_id": "DOID:0060601",
    "recommended_name": {
        "id": "DOID:0060601",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060601",
        "name": "alpha-2-plasmin inhibitor deficiency",
        "description": "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes."
    },
    "synonyms": [
        {
            "id": "DOID:0060601",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060601",
            "name": "antiplasmin defiency",
            "description": ""
        },
        {
            "id": "DOID:0060601",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060601",
            "name": "plasmin inhibitor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009883",
            "name": "alpha-2-plasmin inhibitor deficiency",
            "description": "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0009883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009883",
            "name": "alpha-2-plasmin inhibitor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009883",
            "name": "plasmin inhibitor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009883",
            "name": "anti-plasmin deficiency, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009883",
            "name": "antiplasmin deficiency, congenital",
            "description": ""
        },
        {
            "id": "MIM:262850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262850",
            "name": "Alpha-2-plasmin inhibitor deficiency",
            "description": "Alpha-2-plasmin inhibitor deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060601"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060601",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060601",
            "categories": []
        },
        {
            "id": "MONDO:0009883",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009883",
            "categories": []
        },
        {
            "id": "MIM:262850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/262850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NQ58-1",
            "uniprot_ac": "F6NQ58",
            "uniprot_id": "F6NQ58_DANRE",
            "refseq_ac": "XP_688797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-antiplasmin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-antiplasmin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serpinf2a",
                    "type": "recommended"
                },
                {
                    "name": "serpinf2a",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NQ58-1",
            "evidence": [
                {
                    "id": "0060601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61247-1",
            "uniprot_ac": "Q61247",
            "uniprot_id": "A2AP_MOUSE",
            "refseq_ac": "NP_032904",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-antiplasmin",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2-AP",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-PI",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-plasmin inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Serpin F2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-AP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-PI",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-antiplasmin precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-antiplasmin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-plasmin inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium derived factor",
                    "type": "synonym"
                },
                {
                    "name": "plasmin inhibitor alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade F, member 2",
                    "type": "synonym"
                },
                {
                    "name": "serpin F2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinf2",
                    "type": "recommended"
                },
                {
                    "name": "Pli",
                    "type": "synonym"
                },
                {
                    "name": "Serpimf2",
                    "type": "synonym"
                },
                {
                    "name": "Serpinf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61247-1",
            "evidence": [
                {
                    "id": "0060601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08697-1",
            "uniprot_ac": "P08697",
            "uniprot_id": "A2AP_HUMAN",
            "refseq_ac": "NP_000925",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-antiplasmin",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2-AP",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-PI",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-plasmin inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Serpin F2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-AP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-antiplasmin isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-plasmin inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2",
                    "type": "synonym"
                },
                {
                    "name": "serpin F2",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERPINF2",
                    "type": "recommended"
                },
                {
                    "name": "A2AP",
                    "type": "synonym"
                },
                {
                    "name": "AAP",
                    "type": "synonym"
                },
                {
                    "name": "ALPHA-2-PI",
                    "type": "synonym"
                },
                {
                    "name": "API",
                    "type": "synonym"
                },
                {
                    "name": "PLI",
                    "type": "synonym"
                },
                {
                    "name": "SERPINF2",
                    "type": "synonym"
                },
                {
                    "name": "alpha2AP",
                    "type": "synonym"
                }
            ],
            "record_id": "P08697-1",
            "evidence": [
                {
                    "id": "262850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262850"
                },
                {
                    "id": "0060601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FHF3-1",
            "uniprot_ac": "F7FHF3",
            "uniprot_id": "F7FHF3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin family F member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinf2",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FHF3-1",
            "evidence": [
                {
                    "id": "0060601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3N1-1",
            "uniprot_ac": "Q9V3N1",
            "uniprot_id": "SP27A_DROME",
            "refseq_ac": "NP_001260143",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor 27A",
                    "type": "recommended"
                },
                {
                    "name": "CG11331-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dm-serpin-27A",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 27A",
                    "type": "synonym"
                },
                {
                    "name": "Serpin-27A",
                    "type": "synonym"
                },
                {
                    "name": "Serpin27A",
                    "type": "synonym"
                },
                {
                    "name": "Spn27A-PB",
                    "type": "synonym"
                },
                {
                    "name": "serpin 27A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "serpin 27A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spn27A",
                    "type": "recommended"
                },
                {
                    "name": "CG11331",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Spn27A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11331",
                    "type": "synonym"
                },
                {
                    "name": "EST1",
                    "type": "synonym"
                },
                {
                    "name": "Sp27A",
                    "type": "synonym"
                },
                {
                    "name": "Spn27A",
                    "type": "synonym"
                },
                {
                    "name": "Spn27a",
                    "type": "synonym"
                },
                {
                    "name": "Spn27",
                    "type": "synonym"
                },
                {
                    "name": "sp27A",
                    "type": "synonym"
                },
                {
                    "name": "spn27A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3N1-1",
            "evidence": [
                {
                    "id": "0060601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060601"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060601"
}