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- NCIT_C98699 IAO_0000115 "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." @default.
- NCIT_C98699 NCIT_NHC0 "C98699" @default.
- NCIT_C98699 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98699 NCIT_P108 "5 Alpha Steroid Reductase 2 Deficiency" @default.
- NCIT_C98699 NCIT_P207 "C0268297" @default.
- NCIT_C98699 NCIT_P322 "Cellosaurus" @default.
- NCIT_C98699 NCIT_P322 "NICHD" @default.
- NCIT_C98699 NCIT_P325 "Decreased 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (DHT)." @default.
- NCIT_C98699 NCIT_R176 NCIT_C16612 @default.
- NCIT_C98699 NCIT_R176 NCIT_C18502 @default.
- NCIT_C98699 NCIT_R176 NCIT_C21281 @default.
- NCIT_C98699 NCIT_R176 NCIT_C25939 @default.
- NCIT_C98699 normalizedInformationContent "100" @default.
- NCIT_C98699 referenceCount "1" @default.
- NCIT_C98699 hasExactSynonym "3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency" @default.
- NCIT_C98699 hasExactSynonym "5 Alpha Steroid Reductase 2 Deficiency" @default.
- NCIT_C98699 hasExactSynonym "5-Alpha-Reductase Deficiency" @default.
- NCIT_C98699 hasExactSynonym "Pseudovaginal Perineoscrotal Hypospadias" @default.
- NCIT_C98699 inSubset NCIT_C118467 @default.
- NCIT_C98699 inSubset NCIT_C165258 @default.
- NCIT_C98699 inSubset NCIT_C192842 @default.
- NCIT_C98699 inSubset NCIT_C90259 @default.
- NCIT_C98699 inSubset NCIT_C99147 @default.
- NCIT_C98699 type Class @default.
- NCIT_C98699 isDefinedBy ncit.owl @default.
- NCIT_C98699 label "5 Alpha Steroid Reductase 2 Deficiency" @default.
- NCIT_C98699 subClassOf B3082d881014ac6c918411c41cd43b124 @default.
- NCIT_C98699 subClassOf Bad665ad4b9787e0b9895bf9cd761ae7c @default.
- NCIT_C98699 subClassOf NCIT_C2991 @default.
- NCIT_C98699 subClassOf NCIT_C3235 @default.
- NCIT_C98699 subClassOf NCIT_C34816 @default.
- NCIT_C98699 subClassOf NCIT_C4873 @default.
- NCIT_C98699 subClassOf NCIT_C53529 @default.
- NCIT_C98699 subClassOf NCIT_C53543 @default.
- NCIT_C98699 subClassOf NCIT_C53547 @default.
- NCIT_C98699 subClassOf NCIT_C7057 @default.
- NCIT_C98699 subClassOf NCIT_C97092 @default.
- NCIT_C98699 subClassOf NCIT_C98699 @default.