Congenital Adrenal Insufficiency
Disease ID: disease_node_17794
Connections displayed (default: 10).
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| Dbxref | MIM:613743 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080015, DOID_0050737, DOID_9553 |
| Data Source | DOID |
| Synonyms | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, Adrenal insufficiency, congenital, with 46,XY sex reversal, P450scc DEFICIENCY |
| Doid Label | congenital adrenal insufficiency |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_17794 |
| Doid Id | DOID_0050546 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Adrenal Insufficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Adrenal Gland Diseases(ID:disease_node_1019) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)