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EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
11beta-hydroxysteroid dehydrogenase deficiency
Epidemiologic study of adrenal gland disorders in Japan.
causal interaction
2
11beta-hydroxysteroid dehydrogenase deficiency
Epidemiologic study of adrenal gland disorders in Japan.
unassigned
0
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.
causal interaction
4
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency.
therapeutic application
1
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.
ongoing research
2
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency.
unassigned
0
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Masculinizing genitoplasty in intersex patients.
unassigned
0
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.
unassigned
0
3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency
Masculinizing genitoplasty in intersex patients.
unassigned
0
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
causal interaction
2
Results 1 - 10 of 622 > >>