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hereditary angioedema with C1Inh deficiency

^ http://purl.obolibrary.org/obo/MONDO_0033946

Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. [ MESH:D056829 ]

Term info

database cross reference
  • OMIM:106100 (MONDO:equivalentTo)
  • Orphanet:528623 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
HAE1 [ MONDO:Lexical OMIM:106100 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_528623, https://omim.org/entry/106100

has exact synonym

angioedema, hereditary, 1 and 2, angioedema, hereditary, type 1/2

has related synonym

HAE1, angioneurotic edema, hereditary, angioedema, hereditary, type 2, angioedema, hereditary, type 1, C1 esterase inhibitor, deficiency of, angioedema, hereditary, type I

id

MONDO:0033946

Term relations