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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:Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.
Synonyms:exact_synonym: HAE;   HANE;   hereditary angioedemas;   hereditary angioneurotic edema;   hereditary angioneurotic edemas
 primary_id: MESH:D054179
 alt_id: RDO:0007664
 xref: GARD:5979;   NCI:C84758
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 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 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, PMID:30311386 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, PMID:30311386 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          hereditary angioedema 8
            Hereditary Angioedema Type III 2
            Hereditary Angioedema Types I and II 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            vascular skin disease 151
              urticaria 39
                angioedema 15
                  hereditary angioedema 8
                    Hereditary Angioedema Type III 2
                    Hereditary Angioedema Types I and II 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.