Term Name: | autosomal dominant pseudohypoaldosteronism type 1 |
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Synonyms: | autosomal dominant PHA 1, PHA1A |
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. |
Ontology: | Human Disease [DOID:0060855] ( DOID:0060855 ) |