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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:Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.
Synonyms:exact_synonym: Angioedemas;   Angioneurotic Edema;   Angioneurotic Edemas;   Angioneurotic oedema;   Giant Urticaria;   Giant Urticarias;   Quincke Edema;   Quincke's Edema;   Quinckes Edema
 primary_id: MESH:D000799;   RDO:0001897
 xref: ICD10CM:T78.3;   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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G F12 coagulation factor XII ISO DNA:missense:exon:T309K,T309R
ClinVar Annotator: match by term: Quincke edema
ClinVar PMID:16638441 PMID:25741868, PMID:16638441 RGD:1601106 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16184341 PMID:18453163 PMID:20547619 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serping1 serpin family G member 1 susceptibility ISO DNA:mutations:exon
ClinVar Annotator: match by term: Angioedema
ClinVar PMID:12402344 RGD:1600545 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Quincke edema ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Angioedema ClinVar PMID:28327206 NCBI chr 1:154,536,592...154,599,515
NCBI chr 1:156,334,298...156,440,327
Ensembl chr 1:154,579,949...154,599,430
Ensembl chr 1:154,579,949...154,599,430
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175507 NCBI chr  X:134,940,656...134,969,874
Ensembl chr  X:134,940,615...134,969,996
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 chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9734886 PMID:23406939 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
Angioedema Induced by ACE Inhibitors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to ClinVar PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2503817 PMID:2912069 PMID:3393536 PMID:4974311 PMID:5305539 PMID:5369703 PMID:6698555 PMID:7203486 PMID:8611726 PMID:8860013 PMID:9342374 PMID:11445808 PMID:12768444 PMID:14278484 PMID:15315792 PMID:15502081 PMID:16119988 PMID:19594365 PMID:22018328 PMID:22906047 PMID:23479361 PMID:24460025 PMID:24586352 PMID:25326637 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 susceptibility ISO ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16175507 PMID:20625347 PMID:21898657 NCBI chr  X:134,940,656...134,969,874
Ensembl chr  X:134,940,615...134,969,996
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 Angioedema
ClinVar Annotator: match by term: Angioedemas, Hereditary
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:19477491 PMID:20490261 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532, PMID:21849258, PMID:9129025 RGD:11041802, RGD:11565081 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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 PMID:23866957, PMID:15356570, PMID:22800873 RGD:8661260, RGD:8661265 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Angioedemas, Hereditary
ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
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 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21690105 PMID:23188048 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:27130860 PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21690105 PMID:23188048 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:27130860 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Hereditary Angioedema Types I and II 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 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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, type II
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 PMID:2296585 PMID:2365061 PMID:2563376 PMID:2723063 PMID:2890659 PMID:3178731 PMID:3587308 PMID:8396558 PMID:8755917 PMID:15806011 PMID:16813612 PMID:17137866 PMID:18387221 PMID:18758157 PMID:20864152 PMID:22994404 PMID:24033266 PMID:25741868 PMID:28194776 PMID:28492532 PMID:29753808 PMID:30847342 PMID:31959500 PMID:31982983 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      skin disease 2722
        angioedema 16
          Acquired Angioedema 5
          Angioedema Induced by ACE Inhibitors 2
          hereditary angioedema + 9
          vibratory urticaria 0
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        sensory system disease 5201
          skin disease 2722
            vascular skin disease 154
              urticaria 40
                angioedema 16
                  Acquired Angioedema 5
                  Angioedema Induced by ACE Inhibitors 2
                  hereditary angioedema + 9
                  vibratory urticaria 0
paths to the root