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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hereditary angioedema
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Accession:DOID:14735 term browser browse the term
Definition:An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. (DO)
Synonyms:exact_synonym: HAE;   HANE;   hereditary angioedemas;   hereditary angioneurotic edema;   hereditary angioneurotic edemas
 narrow_synonym: HEREDITARY ANGIOEDEMA WITH NORMAL C1INH
 primary_id: MESH:D054179
 xref: EFO:0004133;   GARD:5979;   MIM:PS106100;   MONDO:0019623;   NCI:C84758;   ORDO:91378
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hereditary angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII disease_progression ISO DNA:deletion mutations:exon,intron:
ClinVar Annotator: match by term: Hereditary angioneurotic edema
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... RGD:11041802, RGD:11565081 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh		 ClinVar PMID:25741868 PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Serping1 serpin family G member 1 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Hereditary angioneurotic edema		 CTD
ClinVar
RGD		 PMID:9734886 PMID:19477491 PMID:23406939 PMID:23634741 PMID:23844784 More... RGD:8661260, RGD:8661265 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
Hereditary Angioedema 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plg plasminogen ISO ClinVar Annotator: match by term: Angioedema, hereditary, 4 | ClinVar Annotator: match by term: PLG-related condition OMIM
ClinVar		 PMID:9858247 PMID:16849641 PMID:25741868 PMID:27976734 PMID:28492532 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
Hereditary Angioedema 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO ClinVar Annotator: match by term: Angioedema, hereditary, 5 OMIM
ClinVar		 PMID:28492532 PMID:28601681 PMID:30689269 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067 		JBrowse link
Hereditary Angioedema 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: Angioedema, hereditary, 6 OMIM
ClinVar		 PMID:25741868 PMID:31087670 PMID:33114181 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
Hereditary Angioedema 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myof myoferlin ISO ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32542751 NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:235,673,666...235,822,334 		JBrowse link
Hereditary Angioedema 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Angioedema, hereditary, 8 OMIM
ClinVar		 PMID:33508266 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
hereditary angioedema type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:3184114 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:25741868 PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency		 CTD
ClinVar
OMIM		 PMID:1339401 PMID:1363816 PMID:1451784 PMID:1644161 PMID:1684567 More... NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
hereditary angioedema type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067 		JBrowse link
G F12 coagulation factor XII ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION | ClinVar Annotator: match by term: Hereditary angioedema, type III		 OMIM
CTD
ClinVar		 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      skin disease 4308
        vascular skin disease 249
          angioedema 18
            hereditary angioedema 11
              Hereditary Angioedema 4 1
              Hereditary Angioedema 5 1
              Hereditary Angioedema 6 1
              Hereditary Angioedema 7 1
              Hereditary Angioedema 8 1
              hereditary angioedema type I 5
              hereditary angioedema type III 3
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            skin disease 4308
              vascular skin disease 249
                angioedema 18
                  hereditary angioedema 11
                    Hereditary Angioedema 4 1
                    Hereditary Angioedema 5 1
                    Hereditary Angioedema 6 1
                    Hereditary Angioedema 7 1
                    Hereditary Angioedema 8 1
                    hereditary angioedema type I 5
                    hereditary angioedema type III 3
paths to the root