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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 type I
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Accession:DOID:0080939 term browser browse the term
Definition:A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. (DO)
Synonyms:exact_synonym: HAE1;   HEREDITARY ANGIOEDEMA WITH C1INH DEFICIENCY;   deficiency of C1 esterase inhibitor;   hereditary C1 esterase inhibitor deficiency - dysfunctional factor;   hereditary angioedema type 1;   hereditary angioedema, autosomal recessive
 broad_synonym: hereditary angioedema types I and II
 related_synonym: HAE2;   hereditary angioedema type II
 primary_id: MESH:D056829
 alt_id: DOID:9003826;   OMIM:106100
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary angioedema type I term browser
Symbol Object Name 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 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
OMIM
ClinVar
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    syndrome 9705
      primary immunodeficiency disease 3835
        complement deficiency 33
          C1 inhibitor deficiency 2
            hereditary angioedema type I 2
Path 2
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11671
        genetic disease 11175
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5233
                hereditary angioedema 11
                  hereditary angioedema type I 2
paths to the root