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Summary Literature (1)
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 : scnn1b, scnn1g, scnn1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009917 - autosomal recessive pseudohypoaldosteronism type 1

OMIM:
OMIM: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): autosomal recessive disease (is_a), pseudohypoaldosteronism (is_a)