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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:angioedema
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Accession:DOID:1558 term browser browse the term
Definition:A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. (DO)
Synonyms:exact_synonym: Angioneurotic Edema;   Giant Urticaria;   Giant Urticarias;   Quincke Edema;   Quincke's edema;   Quinckes edema;   angioedemas;   angioneurotic edemas;   angioneurotic oedema
 primary_id: MESH:D000799
 xref: EFO:0005532;   ICD10CM:T78.3;   MONDO:0010481;   NCI:C112175
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G F12 coagulation factor XII ISO DNA:missense:exon:T309K,T309R
ClinVar Annotator: match by term: Angioedema		 ClinVar
RGD		 PMID:16638441 PMID:25741868 PMID:16638441 RGD:1601106 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16184341 PMID:18453163 PMID:20547619 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Serping1 serpin family G member 1 susceptibility ISO DNA:mutations:exon
ClinVar Annotator: match by term: Angioedema		 ClinVar
RGD		 PMID:12402344 RGD:1600545 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 ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Angioedema ClinVar PMID:28327206 NCBI chr 1:144,272,870...144,379,310
Ensembl chr 1:144,273,360...144,379,222 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175507 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
acquired 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 RGD PMID:9129025 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 G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors ClinVar PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2253938 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9734886 PMID:23406939 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors		 OMIM
CTD
ClinVar		 PMID:16175507 PMID:20625347 PMID:21898657 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
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 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
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema 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 OMIM
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
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 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
Ensembl chr11:77,909,612...78,002,971 		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 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 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
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: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III 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: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III 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 20988
    sensory system disease 7132
      skin disease 4324
        vascular skin disease 197
          angioedema 18
            acquired angioedema 7
            hereditary angioedema + 11
            vibratory urticaria 0
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              vascular skin disease 197
                angioedema 18
                  acquired angioedema 7
                  hereditary angioedema + 11
                  vibratory urticaria 0
paths to the root