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corticosterone methyloxidase deficiency 1
Summary
- Synonym
-
- aldosterone synthase deficiency
- Definition
- An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.
- Super Class
- adrenal gland disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080626
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002013 | Vomiting |
| HP:0001508 | Failure to thrive |
| HP:0003623 | Neonatal onset |
| HP:0000127 | Renal salt wasting |
| HP:0002615 | Hypotension |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0001944 | Dehydration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001954 | Recurrent fever |
| HP:0002902 | Hyponatremia |
