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DO Term : autosomal recessive pseudohypoaldosteronism type 1 [DOID:0060854] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.

synonyms:
autosomal recessive PHA 1,
264350,
ORDO:756,
ORDO:171876,
GARD:4552,
UMLS_CUI:C0268436,
OMIM:264350,
PHA1B,
SNOMEDCT_US_2023_03_01:43941006,
NCI:C123251,
MESH:D011546

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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