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Human Disease

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
Ontology
Human Disease   ( DOID:0060855 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models