{
    "disease_id": "DOID:0080939",
    "recommended_name": {
        "id": "DOID:0080939",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080939",
        "name": "hereditary angioedema type I",
        "description": "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q."
    },
    "synonyms": [
        {
            "id": "DOID:0080939",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080939",
            "name": "hereditary angioedema type II",
            "description": ""
        },
        {
            "id": "MONDO:0033946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033946",
            "name": "hereditary angioedema with C1Inh deficiency",
            "description": "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein."
        },
        {
            "id": "MONDO:0033946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033946",
            "name": "angioedema, hereditary, 1 and 2",
            "description": ""
        },
        {
            "id": "MONDO:0033946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033946",
            "name": "angioedema, hereditary, type 1/2",
            "description": ""
        },
        {
            "id": "MONDO:0033946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033946",
            "name": "HAE1",
            "description": ""
        },
        {
            "id": "MONDO:0033946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033946",
            "name": "angioedema, hereditary, type I",
            "description": ""
        },
        {
            "id": "MIM:106100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/106100",
            "name": "Angioedema, hereditary, 1",
            "description": "Angioedema, hereditary, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080939"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080939",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080939",
            "categories": []
        },
        {
            "id": "MONDO:0033946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033946",
            "categories": []
        },
        {
            "id": "MIM:106100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/106100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6R5-1",
            "uniprot_ac": "A0ACD6B6R5",
            "uniprot_id": "A0ACD6B6R5_DANRE",
            "refseq_ac": "XP_005166940",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma protease C1 inhibitor isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serping1",
                    "type": "recommended"
                },
                {
                    "name": "C1IN",
                    "type": "synonym"
                },
                {
                    "name": "im:7159527",
                    "type": "synonym"
                },
                {
                    "name": "serping1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-110g5.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb60c09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb62a08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb64f02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6R5-1",
            "evidence": [
                {
                    "id": "0080939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97290-1",
            "uniprot_ac": "P97290",
            "uniprot_id": "IC1_MOUSE",
            "refseq_ac": "NP_033906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma protease C1 inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1 esterase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "C1-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "C1Inh",
                    "type": "synonym"
                },
                {
                    "name": "Serpin G1",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor precursor",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade G, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin G1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serping1",
                    "type": "recommended"
                },
                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1INH.",
                    "type": "synonym"
                },
                {
                    "name": "C1Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1nh",
                    "type": "synonym"
                },
                {
                    "name": "Serping1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97290-1",
            "evidence": [
                {
                    "id": "0080939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05155-1",
            "uniprot_ac": "P05155",
            "uniprot_id": "IC1_HUMAN",
            "refseq_ac": "NP_000053",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma protease C1 inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1 esterase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "C1-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "C1-inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "C1Inh",
                    "type": "synonym"
                },
                {
                    "name": "Serpin G1",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor precursor",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine/cysteine proteinase inhibitor clade G member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin G1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor clade G member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade G (C1 inhibitor), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERPING1",
                    "type": "recommended"
                },
                {
                    "name": "C1INH",
                    "type": "synonym"
                },
                {
                    "name": "C1IN",
                    "type": "synonym"
                },
                {
                    "name": "C1NH",
                    "type": "synonym"
                },
                {
                    "name": "HAE1",
                    "type": "synonym"
                },
                {
                    "name": "HAE2",
                    "type": "synonym"
                },
                {
                    "name": "SERPING1",
                    "type": "synonym"
                }
            ],
            "record_id": "P05155-1",
            "evidence": [
                {
                    "id": "106100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/106100"
                },
                {
                    "id": "0080939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P734-1",
            "uniprot_ac": "Q6P734",
            "uniprot_id": "IC1_RAT",
            "refseq_ac": "NP_954524",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma protease C1 inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1 esterase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "C1-inactivator",
                    "type": "synonym"
                },
                {
                    "name": "C1-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "C1Inh",
                    "type": "synonym"
                },
                {
                    "name": "Serpin G1",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor precursor",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) peptidase inhibitor, clade G, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)",
                    "type": "synonym"
                },
                {
                    "name": "serpin G1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade G (C1 inhibitor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade G, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serping1",
                    "type": "recommended"
                },
                {
                    "name": "C1-IA",
                    "type": "synonym"
                },
                {
                    "name": "Serping1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P734-1",
            "evidence": [
                {
                    "id": "0080939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080939"
                }
            ]
        },
        {
            "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": "0080939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080939"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080939"
}