General Information of Disease (ID: DIS90D1E)

Disease Name Pseudohypoaldosteronism type 1
Synonyms PHA1B; pseudohypoaldosteronism type I autosomal recessive; PHA type 1
Definition Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.
Disease Hierarchy
DISZ75RJ: Inherited renal tubular disease
:
DIS90D1E: Pseudohypoaldosteronism type 1
Disease Identifiers
MONDO ID
MONDO_0019161
MESH ID
D011546
MedGen ID
82805
Orphanet ID
756
SNOMED CT ID
43941006