Search Ontology:
Human Disease
congenital adrenal hyperplasia
- Term ID
- DOID:0050811
- Synonyms
-
- adrenal hyperplasia 1
- congenital lipoid adrenal hyperplasia
- lipoid CAH
- Definition
- A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (3)
- References
-
- GARD:1465
- GARD:1467
- ICD10CM:E25
- ICD9CM:255.2
- MIM:201710
- MIM:201810
- MIM:201910
- MIM:202010
- MIM:202110
- ORDO:418
- SNOMEDCT_US_2023_03_01:154706003
- UMLS_CUI:C0701163
- Ontology
- Human Disease ( DOID:0050811 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models