Pseudohypoaldosteronism
Disease ID: disease_node_6376
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:4552, MESH:D011546, MIM:264350, NCI:C123251, ORDO:171876, ORDO:756, SNOMEDCT_US_2023_03_01:43941006, UMLS_CUI:C0268436 |
|---|---|
| Subclassof | DOID_4479, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | PHA1B, autosomal recessive PHA 1 |
| Mesh Id | D011546 |
| Mesh Label | Pseudohypoaldosteronism |
| Mesh Subclassof | D015499 |
| Doid Label | autosomal recessive pseudohypoaldosteronism type 1 |
| Doid Description | A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_6376 |
| Doid Id | DOID_0060854 |
| Label | Pseudohypoaldosteronism |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)