Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

Preferred Label : Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adrenal hyperplasia II; 3-beta-hsd deficiency; HSDB;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-beta-hydroxysteroid dehydrogenase-2 gene (HSD3B2, 613890.0001);

Prefixed ID : #201810;

Details

Origin ID

201810;

UMLS CUI

C0342471;

Automatic exact mappings (from CISMeF team)
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital adrenal hyperplasia [ORDO Disease]
- HSD3B2 wt Allele [NCIt concept]
- adrenal hyperplasia, congenital [MeSH Descriptor]
Currated CISMeF NLP mapping
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3 beta-hydroxysteroid dehydrogenase deficiency [SNOMED Notion]
- 3-Beta-Hydroxysteroid Dehydrogenase Deficiency [NCIt concept]
- congenital adrenal hyperplasia 2 [Disease (Nov.)]
DO Cross reference
- congenital adrenal hyperplasia [DO Concept]
Genes related to phenotype
- 3-beta-hydroxysteroid dehydrogenase 2 [OMIM gene]
HPO term(s)
- Absent scrotum [HPO term]
- Adrenal hyperplasia [HPO term]
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Hypospadias [HPO term]
- Male pseudohermaphroditism [HPO term]
- Micropenis [HPO term]
- Premature pubarche [HPO term]
ORDO concept(s)
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency [ORDO Disease]
See also inter- (CISMeF)
- Adrenal Gland Hyperplasia II [NCIt concept]
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3 beta-hydroxysteroid dehydrogenase deficiency [SNOMED Notion]
- 3-Beta-Hydroxysteroid Dehydrogenase Deficiency [NCIt concept]
- adrenal hyperplasia 2 [MeSH Supplementary Concept]
- congenital adrenal hyperplasia 2 [Disease (Nov.)]

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