Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital adrenal insufficiency
Summary
- Synonym
-
- ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
- Adrenal insufficiency, congenital, with 46,XY sex reversal
- P450scc DEFICIENCY
- Definition
- An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
- Super Class
- adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder
External Links
- Disease Ontology
- DOID:0050546
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000846 | Adrenal insufficiency |
| HP:0000859 | Hyperaldosteronism |
