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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
 primary_id: MESH:D054179
 xref: GARD:5979;   NCI:C84758
For additional species annotation, visit the Alliance of Genome Resources.


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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:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Angioedemas, Hereditary
ClinVar Annotator: match by term: Hereditary angioneurotic edema
CTD
ClinVar
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 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 chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33799813 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 OMIM:106100
CTD
ClinVar
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 Angioedema
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Angioedemas, Hereditary
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 OMIM
ClinVar
PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33114181 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: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 Kng2 kininogen 2 ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, 6 OMIM
ClinVar
PMID:31087670 PMID:33114181 NCBI chr11:77,913,876...77,936,247 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 OMIM
ClinVar
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: Hereditary angioneurotic edema 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: Hereditary angioneurotic edema ClinVar PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33799813 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 ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
ClinVar Annotator: match by term: Hereditary angioedema type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angioedema, hereditary, autosomal recessive
ClinVar
OMIM
CTD
PMID:1339401 PMID:1363816 PMID:1644161 PMID:1684567 PMID:1885769 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: 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 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 ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar Annotator: match by term: ESTROGEN-RELATED HAE
OMIM
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 Plg plasminogen ISO ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ClinVar PMID:33114181 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar Annotator: match by term: ESTROGEN-RELATED HAE
ClinVar PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 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 17205
    sensory system disease 5611
      skin disease 2954
        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 4
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Immune & Inflammatory Diseases 4007
        immune system disease 3367
          allergic disease 583
            Immediate Hypersensitivity 454
              urticaria 42
                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 4
paths to the root