. "NCI:C123251"^^ . . _:vb50939502 . . . "MESH:D011546"^^ . _:vb50939502 . "GARD:4552"^^ . "OMIM:264350"^^ . _:vb50939502 . "PHA1B"@en . "DOID:0060854"^^ . "autosomal recessive pseudohypoaldosteronism type 1"^^ . _:vb50939502 . "ORDO:756"^^ . "SNOMEDCT_US_2021_09_01:43941006"^^ . "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."^^ . . "autosomal recessive PHA 1"@en . "ORDO:171876"^^ . "UMLS_CUI:C0268436"^^ . _:vb50939502 . "disease_ontology"^^ .