{"_id":"MONDO:0012526","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"ecallantide","direct_evidence":"therapeutic","mesh_chemical_id":"C511194","pubmed":"22192969","source":"CTD"},{"chemical_name":"Estrogens","direct_evidence":"marker/mechanism","mesh_chemical_id":"D004967","pubmed":"10984376","source":"CTD"}],"mesh":"D056828","pathway_related_to_disease":[{"inference_gene_symbol":"F12","kegg_pathway_id":"hsa04610","pathway_name":"Complement and coagulation cascades","source":"CTD"},{"inference_gene_symbol":"F12","pathway_name":"Hemostasis","react_pathway_id":"R-HSA-109582","source":"CTD"},{"inference_gene_symbol":"F12","pathway_name":"Intrinsic Pathway of Fibrin Clot Formation","react_pathway_id":"R-HSA-140837","source":"CTD"},{"inference_gene_symbol":"F12","pathway_name":"Formation of Fibrin Clot (Clotting Cascade)","react_pathway_id":"R-HSA-140877","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050736","DOID:1558","DOID:37","DOID:0050177","DOID:630","DOID:4","DOID:16","DOID:7","DOID:14735","DOID:0050739"],"children":[],"def":"\"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.\" [url:https\\://pubmed.ncbi.nlm.nih.gov/16638441/]","descendants":[],"doid":"DOID:0080940","name":"hereditary angioedema type III","parents":["DOID:14735"],"synonyms":{},"xrefs":{"mesh":"D056828","mim":"610618"}},"hpo":{"disease_name":"Angioedema, hereditary, 3","inheritance":{"biocuration":[{"date":"2013-02-28","name":"HPO:probinson"},{"date":"2021-07-13","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},"omim":"610618","phenotype_related_to_disease":[{"biocuration":[{"date":"2014-01-28","name":"HPO:skoehler"},{"date":"2021-07-13","name":"HPO:probinson"}],"clinical_modifier":"HP:0025303","evidence":"PCS","hpo_id":"HP:0005225","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},{"biocuration":[{"date":"2013-01-09","name":"HPO:probinson"},{"date":"2021-07-13","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0100665","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},{"biocuration":[{"date":"2013-02-28","name":"HPO:probinson"},{"date":"2021-07-13","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0002574","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},{"biocuration":[{"date":"2014-01-28","name":"HPO:skoehler"},{"date":"2021-07-13","name":"HPO:probinson"}],"clinical_modifier":"HP:0025303","evidence":"PCS","hpo_id":"HP:0002013","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},{"biocuration":[{"date":"2013-04-07","name":"HPO:probinson"},{"date":"2021-07-13","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0012271","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},{"biocuration":[{"date":"2017-07-13","name":"HPO:skoehler"},{"date":"2021-07-13","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000282","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"},{"biocuration":[{"date":"2017-07-13","name":"HPO:skoehler"},{"date":"2021-07-13","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0011855","original_disease_id":"OMIM:610618","pmid_refs":"PMID:10984376"}]},"mondo":{"ancestors":["MONDO:0019293","MONDO:7770009","MONDO:0000001","MONDO:0005385","MONDO:0010481","MONDO:0100118","MONDO:0004995","MONDO:7770007","MONDO:0002406","MONDO:0005093","MONDO:7770008","MONDO:7770006","MONDO:0002051","MONDO:0700096","MONDO:0021166","MONDO:0005492","MONDO:0019623","MONDO:0003847"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0012526"]},"definition":"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. [Orphanet:100054]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/3530"]},"label":"hereditary angioedema type 3","mondo":"MONDO:0012526","parents":["MONDO:0019623"],"synonym":{"exact":["angioedema, hereditary, 3","F12 hereditary angioedema","HAE 3","HAE-III","hereditary angioedema caused by mutation in F12","hereditary angioedema type 3","hereditary angioneurotic edema type 3","hereditary angioneurotic oedema type 3","inherited estrogen-associated angioedema","inherited estrogen-associated angioneurotic edema","inherited estrogen-associated angioneurotic oedema","inherited estrogen-dependent angioedema","inherited estrogen-dependent angioneurotic edema","inherited estrogen-dependent angioneurotic oedema"],"related":["angioedema, hereditary, type III","HAE3"]},"xrefs":{"doid":["DOID:0080940"],"gard":["0016935"],"icd9":["277.6"],"medgen":["346653"],"mesh":["D056828"],"omim":["610618"],"orphanet":["100054"],"sctid":["427167008"],"umls":["C1857728"]}},"umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D056828","preferred":"D056828"},"umls":"C1857728"}}