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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:0061026 term browser browse the term
Definition:A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. (DO)
Synonyms:exact_synonym: HPP
 alt_id: DOID:9000212
 xref: GARD:4619;   MESH:C563004;   MIM:266140;   MONDO:0009948;   ORDO:98867


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hereditary pyropoikilocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:88,813,861...88,814,802 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary 		OMIM
CTD
ClinVar		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hemolytic anemia 365
        hereditary elliptocytosis 10
          hereditary pyropoikilocytosis 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          anemia 865
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  hereditary elliptocytosis 10
                    hereditary pyropoikilocytosis 3
paths to the root