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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: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
 xref: GARD:4552;   NCI:C123251;   ORDO:171876;   ORDO:756
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 OMIM
ClinVar
PMID:1506904 PMID:8589714 PMID:10510337 PMID:10523338 PMID:10586178 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 OMIM
ClinVar
PMID:8589714 PMID:9118951 PMID:9576123 PMID:9674649 PMID:10523338 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 OMIM
ClinVar
PMID:8640238 PMID:10391210 PMID:11231969 PMID:12473862 PMID:15198480 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          renal tubular transport disease 98
            pseudohypoaldosteronism 14
              autosomal recessive pseudohypoaldosteronism type 1 5
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                autosomal recessive pseudohypoaldosteronism type 1 5
paths to the root