loading...| Preferred Name |
_3-Oxo-5_Alpha-Steroid_Delta_4-Dehydrogenase_Deficiency |
|
| Synonyms |
|
|
| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#_3-Oxo-5_Alpha-Steroid_Delta_4-Dehydrogenase_Deficiency |
|
| ID |
C98699 |
|
| NCI_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_PT |
5 Alpha Steroid Reductase 2 Deficiency |
|
| NICHD_Definition |
_ |
|
| prefixIRI |
_3-Oxo-5_Alpha-Steroid_Delta_4-Dehydrogenase_Deficiency |
|
| prefLabel |
_3-Oxo-5_Alpha-Steroid_Delta_4-Dehydrogenase_Deficiency |
|
| Subset_Association1 |
NICHD Pediatric Terminology |
|
| Subset_Association2 |
Neonatal Research Network Terminology |
|
| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Autosomal_Recessive_Hereditary_Disorder |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SNOMEDCT/57514000 | SNOMEDCT | LOOM | |
| http://purl.bioontology.org/ontology/SNMI/D6-80310 | SNMI | LOOM |