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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Pseudohypoaldosteronism Type IB2, Autosomal Recessive
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Accession:DOID:9000057 term browser browse the term
Definition:A pseudohypoaldosteronism characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. Caused by homozygous mutation in the beta subunit of the epithelial sodium channel (ENaC), SCNN1B, on chromosome 16p12.
Synonyms:exact_synonym: PHA1B2
 primary_id: OMIM:620125


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Pseudohypoaldosteronism Type IB2, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive OMIM
ClinVar		 PMID:8589714 PMID:9118951 PMID:12107247 PMID:15853823 PMID:21504729 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          renal tubular transport disease 134
            pseudohypoaldosteronism 14
              autosomal recessive pseudohypoaldosteronism type 1 5
                Pseudohypoaldosteronism Type IB2, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                autosomal recessive pseudohypoaldosteronism type 1 5
                  Pseudohypoaldosteronism Type IB2, Autosomal Recessive 1
paths to the root