| Metadata | |
|---|---|
| ID | DOID:0060854 |
| Name | autosomal recessive pseudohypoaldosteronism type 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10202170, https://www.ncbi.nlm.nih.gov/pubmed/8589714, https://www.ncbi.nlm.nih.gov/pubmed/10404817 |
| Xrefs |
SNOMEDCT_US_2023_03_01:43941006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
autosomal recessive PHA 1 [EXACT] PHA1B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |