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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:0008163 | Decreased circulating cortisol level |
| HP:0008187 | Absence of secondary sex characteristics |
| HP:0008207 | Primary adrenal insufficiency |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0008665 | Clitoral hypertrophy |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype |
| HP:0008734 | Decreased testicular size |
| HP:0010512 | Adrenal calcification |
| HP:0010789 | Abnormality of the Leydig cells |
| HP:0011106 | Hypovolemia |
