Term Name: | autosomal recessive pseudohypoaldosteronism type 1 |
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Synonyms: | autosomal recessive PHA 1, PHA1B |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060854] ( DOID:0060854 ) |