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Metadata
ID DOID:0060855
Name autosomal dominant pseudohypoaldosteronism type 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/9662404
Xrefs

GARD:9145

MESH:D011546

OMIM:177735

ORDO:756

UMLS_CUI:C1449843

Synonyms

autosomal dominant PHA 1 [EXACT]

PHA1A [EXACT]

Parent Relationships

is_a pseudohypoaldosteronism

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