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Disease Ontology Browser
autosomal recessive pseudohypoaldosteronism type 1 (DOID:0060854)
Alliance: disease page
Synonyms: autosomal recessive PHA 1; PHA1B
Alt IDs: OMIM:264350, MESH:D011546, NCI:C123251, ORDO:171876, ORDO:756, UMLS_CUI:C0268436
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory