|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||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. (Human Disease Ontology, DOID_0050811)|
|Downloads & Tools|
2 genes associated with the congenital adrenal hyperplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.