Preferred Label : 17-Alpha-Hydroxylase/17,20 Lyase Deficiency;
Alternative definition : NICHD: Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase
due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations
of the deficiency are dependent on whether one or both activities of the enzyme are
affected, and may include hypertension due to reduced 17-hydroxylase activity and
incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity.;
NCI Metathesaurus CUI : CL514199;
Origin ID : C131086;
UMLS CUI : C4329212;
Semantic type(s)
- concept_is_in_subset
- disease_mapped_to_gene
