Terminology Service for NFDI4Health
JSON

5 Alpha Steroid Reductase 2 Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C98699

An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. [ ]

Term info

Label

5 Alpha Steroid Reductase 2 Deficiency

Synonyms
  • 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency
  • 5 Alpha Steroid Reductase 2 Deficiency
  • Pseudovaginal Perineoscrotal Hypospadias
Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101, http://purl.obolibrary.org/obo/NCIT_C3492

NICHD Hierarchy Term

5 Alpha Steroid Reductase 2 Deficiency

Preferred Name

5 Alpha Steroid Reductase 2 Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C0268297

code

C98699