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 |