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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
 alt_id: RDO:9003075
 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: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:1506904 PMID:8589714 PMID:10510337 PMID:10523338 PMID:10586178 PMID:11978598 PMID:15734793 PMID:16249274 PMID:19462466 PMID:20194130 PMID:21889619 PMID:21917531 PMID:23149595 PMID:24033266 PMID:25741868 PMID:26668308 PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8589714 PMID:9118951 PMID:9576123 PMID:9674649 PMID:10523338 PMID:11439319 PMID:15661075 PMID:16207733 PMID:18507830 PMID:19017867 PMID:19462466 PMID:21504729 PMID:24033266 PMID:25333069 PMID:25741868 PMID:25900089 PMID:26038974 PMID:26467025 PMID:28492532 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8640238 PMID:10391210 PMID:11231969 PMID:12473862 PMID:15198480 PMID:17460608 PMID:17634077 PMID:18507830 PMID:19462466 PMID:21956615 PMID:22995991 PMID:23149595 PMID:24033266 PMID:24882431 PMID:25741868 PMID:25900089 PMID:26135620 PMID:26467025 PMID:26537344 PMID:27884173 PMID:28492532 PMID:28497567 PMID:29229744 PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        inherited metabolic disorder 2255
          renal tubular transport disease 95
            pseudohypoaldosteronism 14
              autosomal recessive pseudohypoaldosteronism type 1 5
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                autosomal recessive pseudohypoaldosteronism type 1 5
paths to the root