Congenital adrenal hyperplasia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://purl.bioontology.org/ontology/SNOMEDCT/237751000
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1