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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

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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 chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chrNW_004936597:1,687,511...1,694,782 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 OMIM
ClinVar		 PMID:1339401 PMID:1363816 PMID:1451784 PMID:1684567 PMID:1885769 More... NCBI chrNW_004936581:4,911,403...4,924,484
Ensembl chrNW_004936581:4,908,458...4,924,645 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      primary immunodeficiency disease 3540
        complement deficiency 43
          C1 inhibitor deficiency 4
            hereditary angioedema type I 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              vascular skin disease 182
                angioedema 16
                  hereditary angioedema 11
                    hereditary angioedema type I 4
paths to the root