congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
http://purl.obolibrary.org/obo/MONDO_0008727
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. [ Orphanet:90791 ]
Term info
- GARD:0009152 (MONDO:equivalentTo)
- Orphanet:90791 (OMIM:201810)
- MESH:C538236 (MONDO:equivalentTo)
- SCTID:54470008 (MONDO:equivalentTo)
- NCIT:C131088 (MONDO:equivalentTo)
- OMIM:201810 (Orphanet:90791/e)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4069
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
http://purl.obolibrary.org/obo/NCIT_C131088, https://omim.org/entry/201810, http://identifiers.org/snomedct/54470008, http://identifiers.org/mesh/C538236, http://purl.obolibrary.org/obo/Orphanet_90791
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency, 3-beta HSD deficiency
3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF, adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency, 3-Beta-HSD deficiency, type II 3-beta-hydroxysteroid dehydrogenase deficiency, 3b-hydroxysteroid dehydrogenase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, HSD3B deficiency, adrenal hyperplasia 2, adrenal hyperplasia II, adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency
MONDO:0008727