congenital adrenal hyperplasia

created [InstanceEdit:9660767] Orlic-Milacic, Marija, 2019-09-11
databaseName DOID
dbId 9660763
definition A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
displayName congenital adrenal hyperplasia
identifier 0050811
name
  • congenital adrenal hyperplasia
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • congenital lipoid adrenal hyperplasia
  • lipoid CAH
  • adrenal hyperplasia 1
url https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:0050811
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