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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:Hereditary Pyropoikilocytosis
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Accession:DOID:9000212 term browser browse the term
Synonyms:exact_synonym: HPP
 primary_id: MESH:C563004
 alt_id: OMIM:266140


show annotations for term's descendants           Sort by:
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary OMIM
ClinVar		 PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 More... NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,718...88,954,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    physical disorder 4823
      congenital hemolytic anemia 331
        hereditary elliptocytosis 9
          Hereditary Pyropoikilocytosis 3
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Hemic and Lymphatic Diseases 3610
        hematopoietic system disease 3134
          anemia 737
            normocytic anemia 397
              hemolytic anemia 397
                congenital hemolytic anemia 331
                  hereditary elliptocytosis 9
                    Hereditary Pyropoikilocytosis 3
paths to the root