Congenital adrenal hyperplasia
cv_term_accession
KW-0954
canonical
uniprot_keyword
KW-0954
canonical
name
Congenital adrenal hyperplasia
uniprot
synonym
CAH
uniprot
definition
Protein which, if defective, causes congenital adrenal hyperplasia, a group of inherited disorders of cortisol biosynthesis. Defective cortisol biosynthesis results in compensatory hypersecretion of corticotropin with subsequent adrenal hyperplasia and excessive androgen production. Various clinical types are recognized: "salt wasting form" is the most severe type, "simple virilizing form" with normal aldosterone biosynthesis, "non-classic form" or late onset, and "cryptic form" or asymptomatic.
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keywords
is_obsolete
false
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keywords
ontology_id
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uniprot
keywords