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ZIRC
OBO ID: DOID:0060855
Term Name: autosomal dominant pseudohypoaldosteronism type 1 Search Ontology:
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)
OTHER autosomal dominant pseudohypoaldosteronism type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant 177735
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None