About: 5 Alpha Steroid Reductase 2 Deficiency     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • 5 Alpha Steroid Reductase 2 Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • 5 Alpha Steroid Reductase 2 Deficiency
UMLS_CUI
  • C0268297
Contributing_Source
  • NICHD
FULL_SYN
  • 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase DeficiencyPTNICHD
  • 5 Alpha Steroid Reductase 2 DeficiencyPTNCI
DEFINITION
  • 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.NCI
code
  • C98699
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