autosomal dominant pseudohypoaldosteronism type 1

Summary

DOID:0060855 - autosomal dominant pseudohypoaldosteronism type 1

Disease Ontology 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.

Synonyms: autosomal dominant PHA 1, PHA1A

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nr3c2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008329 - autosomal dominant pseudohypoaldosteronism type 1

MONDO:0008329 - autosomal dominant pseudohypoaldosteronism type 1

MIM:

MIM:177735 - PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A

MIM:177735 - PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), pseudohypoaldosteronism (is_a)