Preferred Name

congenital adrenal hyperplasia

Synonyms

congenital lipoid adrenal hyperplasia

CAH

lipoid CAH

adrenal hyperplasia, congenital

congenital adrenal gland hyperplasia

adrenal hyperplasia

adrenogenital syndrome

adrenogenital disorder

Definitions

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.

ID

http://purl.obolibrary.org/obo/MONDO_0018479

has_broad_synonym

adrenogenital syndrome

adrenogenital disorder

has_exact_synonym

congenital lipoid adrenal hyperplasia

CAH

lipoid CAH

adrenal hyperplasia, congenital

congenital adrenal gland hyperplasia

adrenal hyperplasia

label

congenital adrenal hyperplasia

prefixIRI

MONDO:0018479

prefLabel

congenital adrenal hyperplasia

textual definition

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005523

http://purl.obolibrary.org/obo/MONDO_0015129

http://purl.obolibrary.org/obo/MONDO_0015898

http://purl.obolibrary.org/obo/MONDO_0015514

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