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Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive (MONDO:0009917)

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.

Overview

Category

urinary system disorder

Ontology ID

MONDO:0009917

Internal:11120

Synonyms

PHA1B

autosomal recessive PHA 1

autosomal recessive pseudohypoaldosteronism type 1

generalised PHA1

generalised pseudohypoaldosteronism type 1

generalized PHA1

generalized pseudohypoaldosteronism type 1

PHA I, autosomal recessive

pseudohypoaldosteronism type 1 autosomal recessive

pseudohypoaldosteronism type 1, recessive

pseudohypoaldosteronism, type I, autosomal recessive

Mapped terms

GARD:0004552

MEDGEN:1823950

OMIM:264350

Orphanet:171876

UMLS:C5774176

Child terms

Unknown children.

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