FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant pseudohypoaldosteronism type 1 ID (Ontology) DOID:0060855 (Human Disease)
Definition A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
Also Known As "autosomal dominant PHA 1" ; "PHA1A"
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 Genes
 autosomal dominant pseudohypoaldosteronism type 1       1
 for disease ribbon | autosomal dominant pseudohypoaldosteronism type 1       1
 model of | autosomal dominant pseudohypoaldosteronism type 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
renal tubular transport disease  |
 |__pseudohypoaldosteronism______|
                                 autosomal dominant pseudohypoaldosteronism type 1  1 rec.
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Is a autosomal dominant disease
pseudohypoaldosteronism
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Synonyms
  • "autosomal dominant PHA 1" EXACT
    "PHA1A" EXACT OMO:0003012
Secondary IDs
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GARD:9145
MESH:D011546
MIM:177735
ORDO:756
UMLS_CUI:C1449843