{
    "disease_id": "DOID:0080940",
    "recommended_name": {
        "id": "DOID:0080940",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080940",
        "name": "hereditary angioedema type III",
        "description": "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "hereditary angioedema type 3",
            "description": "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "F12 hereditary angioedema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "HAE 3",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "HAE-III",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "angioedema, hereditary, 3",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "hereditary angioedema caused by mutation in F12",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "hereditary angioedema type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "hereditary angioneurotic edema type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "hereditary angioneurotic oedema type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "inherited estrogen-associated angioedema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "inherited estrogen-associated angioneurotic edema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "inherited estrogen-associated angioneurotic oedema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "inherited estrogen-dependent angioedema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "inherited estrogen-dependent angioneurotic edema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "inherited estrogen-dependent angioneurotic oedema",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "HAE3",
            "description": ""
        },
        {
            "id": "MONDO:0012526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "name": "angioedema, hereditary, type III",
            "description": ""
        },
        {
            "id": "MIM:610618",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610618",
            "name": "Angioedema, hereditary, 3",
            "description": "Angioedema, hereditary, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080940"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080940",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080940",
            "categories": []
        },
        {
            "id": "MONDO:0012526",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012526",
            "categories": []
        },
        {
            "id": "MIM:610618",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610618",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80YC5-1",
            "uniprot_ac": "Q80YC5",
            "uniprot_id": "FA12_MOUSE",
            "refseq_ac": "NP_067464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor XII",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.38",
                    "type": "synonym"
                },
                {
                    "name": "HAF",
                    "type": "synonym"
                },
                {
                    "name": "Hageman factor",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XII preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "factor XII",
                    "type": "synonym"
                },
                {
                    "name": "hageman factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F12",
                    "type": "recommended"
                },
                {
                    "name": "F12",
                    "type": "synonym"
                },
                {
                    "name": "FXII",
                    "type": "synonym"
                },
                {
                    "name": "HAF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YC5-1",
            "evidence": [
                {
                    "id": "0080940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00748-1",
            "uniprot_ac": "P00748",
            "uniprot_id": "FA12_HUMAN",
            "refseq_ac": "NP_000496",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor XII",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.38",
                    "type": "synonym"
                },
                {
                    "name": "Beta-factor XIIa part 2",
                    "type": "synonym"
                },
                {
                    "name": "HAF",
                    "type": "synonym"
                },
                {
                    "name": "Hageman factor",
                    "type": "synonym"
                },
                {
                    "name": "Plasma coagulation Factor XIIa",
                    "type": "synonym"
                },
                {
                    "name": "beta-factor XIIa part 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-factor XIIa part 2",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XII preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIIa heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIIa light chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F12",
                    "type": "recommended"
                },
                {
                    "name": "F12",
                    "type": "synonym"
                },
                {
                    "name": "HAE3",
                    "type": "synonym"
                },
                {
                    "name": "HAEX",
                    "type": "synonym"
                },
                {
                    "name": "HAF",
                    "type": "synonym"
                }
            ],
            "record_id": "P00748-1",
            "evidence": [
                {
                    "id": "610618",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610618"
                },
                {
                    "id": "0080940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTE0-1",
            "uniprot_ac": "D3ZTE0",
            "uniprot_id": "FA12_RAT",
            "refseq_ac": "NP_001014028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor XII",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.38",
                    "type": "synonym"
                },
                {
                    "name": "HAF",
                    "type": "synonym"
                },
                {
                    "name": "Hageman factor",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XII precursor",
                    "type": "synonym"
                },
                {
                    "name": "factor XII",
                    "type": "synonym"
                },
                {
                    "name": "hageman factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F12",
                    "type": "recommended"
                },
                {
                    "name": "F12",
                    "type": "synonym"
                },
                {
                    "name": "HAF",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTE0-1",
            "evidence": [
                {
                    "id": "0080940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08603-1",
            "uniprot_ac": "Q08603",
            "uniprot_id": "PGTB2_RAT",
            "refseq_ac": "NP_619715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Geranylgeranyl transferase type-2 subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.60",
                    "type": "synonym"
                },
                {
                    "name": "GGTase-II-beta",
                    "type": "synonym"
                },
                {
                    "name": "Geranylgeranyl transferase type II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Rab GG transferase beta",
                    "type": "synonym"
                },
                {
                    "name": "Rab GGTase beta",
                    "type": "synonym"
                },
                {
                    "name": "Rab geranyl-geranyltransferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Rab geranylgeranyl transferase componenet, subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Rab geranylgeranyltransferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Rab geranylgeranyltransferase, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Type II protein geranyl-geranyltransferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "geranylgeranyl transferase type II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "geranylgeranyl transferase type-2 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "rab GG transferase beta",
                    "type": "synonym"
                },
                {
                    "name": "rab GGTase beta",
                    "type": "synonym"
                },
                {
                    "name": "rab geranyl-geranyltransferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "type II protein geranyl-geranyltransferase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rabggtb",
                    "type": "recommended"
                },
                {
                    "name": "Ggtb",
                    "type": "synonym"
                },
                {
                    "name": "Rabggtb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08603-1",
            "evidence": [
                {
                    "id": "0080940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080940"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080940"
}