autosomal dominant pseudohypoaldosteronism type 1

Term ID

DOID:0060855

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. https://www.ncbi.nlm.nih.gov/pubmed/9662404

References

• GARD:9145
• MESH:D011546
• OMIM:177735
• ORDO:756
• UMLS_CUI:C1449843

Ontology

Human Disease   ( DOID:0060855 )