Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/201810 http://purl.bioontology.org/ontology/OMIM/201810
Preferred Name	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
Synonyms	HSDB ADRENAL HYPERPLASIA II 3-BETA-HSD DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HSDB ADRENAL HYPERPLASIA II 3-BETA-HSD DEFICIENCY
prefLabel	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
Gene Symbol	HSD3B2
Scope Statement	Caused by mutation in the 3-beta-hydroxysteroid dehydrogenase-2 gene (HSD3B2, 613890.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048802 http://purl.bioontology.org/ontology/OMIM/MTHU048798 http://purl.bioontology.org/ontology/OMIM/MTHU067466 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU048797 http://purl.bioontology.org/ontology/OMIM/MTHU048803 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU048799 http://purl.bioontology.org/ontology/OMIM/MTHU048804 http://purl.bioontology.org/ontology/OMIM/MTHU003772 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU067467 See more See less
tui	T047
Gene Locus	1p13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	201810
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0342471
OMIM Entry Type	3
OMIM MimType Value	pound

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