|
DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1
Disease Ontology 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.
Synonyms: PHA1B, autosomal recessive PHA 1,
Echinobase Genes :
MIM:264350 - pseudohypoaldosteronism, type i, autosomal recessive; pha1b |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
pseudohypoaldosteronism (is_a)