About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory