Term Name: autosomal recessive pseudohypoaldosteronism type 1
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 )

Relationships
is a type of: autosomal recessive disease pseudohypoaldosteronism