FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive pseudohypoaldosteronism type 1 ID (Ontology) DOID:0060854 (Human Disease)
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.
Also Known As "autosomal recessive PHA 1" ; "PHA1B"
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 Genes
 autosomal recessive pseudohypoaldosteronism type 1       3
 for disease ribbon | autosomal recessive pseudohypoaldosteronism type 1       3
 model of | autosomal recessive pseudohypoaldosteronism type 1       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
renal tubular transport disease  |
 |__pseudohypoaldosteronism______|
                                 autosomal recessive pseudohypoaldosteronism type 1  3 rec.
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Is a autosomal recessive disease
pseudohypoaldosteronism
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Synonyms
  • "autosomal recessive PHA 1" EXACT
    "PHA1B" EXACT OMO:0003012
Secondary IDs
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GARD:4552
MESH:D011546
MIM:264350
NCI:C123251
ORDO:171876
ORDO:756
SNOMEDCT_US_2023_03_01:43941006
UMLS_CUI:C0268436