ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive pseudohypoaldosteronism type 1
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Accession:DOID:0060854 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: PHA1B;   autosomal recessive PHA 1;   autosomal recessive pseudohypoaldosteronism type I;   recessive pseudohypoaldosteronism type I
 primary_id: OMIM:264350
 alt_id: RDO:9003075
 xref: GARD:4552;   ORDO:171876;   ORDO:756
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autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbr lymphotoxin beta receptor JBrowse link 4 157,822,838 157,829,291 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
RGD:7240710
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:8554872
RGD:7240710
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
RGD:7240710
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872

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Path 1
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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          renal tubular transport disease 94
            pseudohypoaldosteronism 13
              autosomal recessive pseudohypoaldosteronism type 1 5
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                autosomal recessive pseudohypoaldosteronism type 1 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.