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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
 xref: GARD:4552;   NCI:C123251;   ORDO:171876;   ORDO:756


show annotations for term's descendants           Sort by:
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 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 ClinVar PMID:10403853 PMID:10586178 PMID:23416952 PMID:24033266 PMID:25741868 More... NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISS
ISO 		OMIM:264350
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive 		MouseDO
ClinVar		 PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18507830 More... NCBI chr 1:185,861,326...185,915,717
Ensembl chr 1:185,854,733...185,916,049 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
OMIM:264350 		ClinVar
MouseDO		 PMID:8640238 PMID:10391210 PMID:11231969 PMID:12473862 PMID:15198480 More... NCBI chr 1:185,736,225...185,770,099
Ensembl chr 1:185,736,191...185,770,097 		JBrowse link
Pseudohypoaldosteronism Type IB1, Autosomal Recessive 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 IB1, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive OMIM
ClinVar		 PMID:1506904 PMID:10403853 PMID:10510337 PMID:10523338 PMID:10586178 More... NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:9576123 PMID:9674649 PMID:10523338 PMID:11439319 PMID:15661075 More... NCBI chr 1:185,861,326...185,915,717
Ensembl chr 1:185,854,733...185,916,049 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:10391210 PMID:12473862 PMID:15198480 PMID:17460608 PMID:17634077 More... NCBI chr 1:185,736,225...185,770,099
Ensembl chr 1:185,736,191...185,770,097 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
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:12714866 PMID:15853823 More... NCBI chr 1:185,861,326...185,915,717
Ensembl chr 1:185,854,733...185,916,049 		JBrowse link
PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive OMIM
ClinVar		 PMID:8640238 PMID:11231969 PMID:12473862 PMID:15198480 PMID:17634077 More... NCBI chr 1:185,736,225...185,770,099
Ensembl chr 1:185,736,191...185,770,097 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          renal tubular transport disease 109
            pseudohypoaldosteronism 14
              autosomal recessive pseudohypoaldosteronism type 1 5
                PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE 1
                Pseudohypoaldosteronism Type IB1, Autosomal Recessive 5
                Pseudohypoaldosteronism Type IB2, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                autosomal recessive pseudohypoaldosteronism type 1 5
                  PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE 1
                  Pseudohypoaldosteronism Type IB1, Autosomal Recessive 5
                  Pseudohypoaldosteronism Type IB2, Autosomal Recessive 1
paths to the root