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Disease

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Also known as 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency, 46,XY DSD due to 5-alpha-reductase 2 deficiency, 5 Alpha steroid reductase 2 deficiency, Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency+7 more

3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency, 46,XY DSD due to 5-alpha-reductase 2 deficiency, 5 Alpha steroid reductase 2 deficiency, Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency, pseudovaginal perineoscrotal hypospadias, steroid 5-alpha-reductase deficiency, 5-alpha reductase deficiency, Male pseudohermaphroditism due to 5-Alpha-reductase deficiency, PPSH, familial incomplete Male pseudohermaphroditism, type 2, micropenis.

3
Associated genes
1
Related proteins

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Associated genes

3 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Reference

Authoritative identity, definition & identifiers.

Synonyms

3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency, 46,XY DSD due to 5-alpha-reductase 2 deficiency, 5 Alpha steroid reductase 2 deficiency, Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency, pseudovaginal perineoscrotal hypospadias, steroid 5-alpha-reductase deficiency, 5-alpha reductase deficiency, Male pseudohermaphroditism due to 5-Alpha-reductase deficiency, PPSH, familial incomplete Male pseudohermaphroditism, type 2, micropenis

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.