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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 IID
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Accession:DOID:9001548 term browser browse the term
Synonyms:exact_synonym: FAMILIAL HYPERKALEMIC HYPERTENSION;   FHHT;   KLHL3-RELATED CONDITION;   PHA2D
 primary_id: OMIM:614495
 alt_id: RDO:9000658


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Pseudohypoaldosteronism, Type IID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl3 kelch-like family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION | ClinVar Annotator: match by term: KLHL3-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:22266938 PMID:22406640 PMID:23387299 More... NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          renal tubular transport disease 134
            pseudohypoaldosteronism 14
              Pseudohypoaldosteronism, Type IID 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          kidney disease 2581
            renal tubular transport disease 134
              pseudohypoaldosteronism 14
                Pseudohypoaldosteronism, Type IID 1
paths to the root