3-Oxo-5 Alpha-steroid Delta 4-dehydrogenase Deficiency
| Disease Aliases (14) | 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 46,xy dsd due to 5-alpha-reductase 2 deficiency 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency 5 alpha steroid reductase 2 deficiency 5-alpha reductase deficiency Familial incomplete male pseudohermaphroditism, type 2 Male pseudohermaphroditism due to 5-alpha-reductase deficiency Micropenis Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Ppsh Pseudovaginal perineoscrotal hypospadias Steroid 5-alpha-reductase deficiency Steroid 5-alpha-reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias; ppsh |
Associated Genes (1) NCBI-RefSeq: SRD5A2 (Steroid 5 alpha-reductase 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |