autosomal recessive pseudohypoaldosteronism type 1

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: scnn1b, scnn1g, scnn1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009917 - autosomal recessive pseudohypoaldosteronism type 1

MONDO:0009917 - autosomal recessive pseudohypoaldosteronism type 1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), pseudohypoaldosteronism (is_a)