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About: autosomal recessive pseudohypoaldosteronism type 1     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • autosomal recessive pseudohypoaldosteronism type 1
described by
id
  • DOID:0060854
database_cross_reference
  • GARD:4552
  • MESH:D011546
  • NCI:C123251
  • OMIM:264350
  • ORDO:171876
  • ORDO:756
  • SNOMEDCT_US_2021_09_01:43941006
  • UMLS_CUI:C0268436
has_exact_synonym
  • PHA1B (en)
  • autosomal recessive PHA 1 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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