# congenital adrenal hyperplasia

> steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper- or hypo-androgeny manifestations resulting from steroidogenic enzyme deficiency

**Wikidata**: [Q366868](https://www.wikidata.org/wiki/Q366868)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia)  
**Source**: https://4ort.xyz/entity/congenital-adrenal-hyperplasia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. [Source](https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap)
3. Disease Ontology
4. Management of adolescents with congenital adrenal hyperplasia
5. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
6. Freebase Data Dumps. 2013
7. [Genetics Home Reference. 2019](https://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency)
8. [Inxight: Drugs Database](https://drugs.ncats.io/drug/X4W7ZR7023)
9. Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency
10. The genetic and functional basis of isolated 17,20-lyase deficiency
11. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
12. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
13. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene
14. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin
15. [Identifiers.org](https://registry.identifiers.org/registry/doid)
16. UMLS 2023
17. National Library of Israel
18. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)