Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:pyruvate kinase deficiency of red cells
go back to main search page
Accession:DOID:0111077 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: PK Deficiency;   hemolytic anemia due to red cell pyruvate kinase deficiency;   pyruvate kinase deficiency;   pyruvate kinase deficiency of erythrocyte
 broad_synonym: PKLR-RELATED CONDITION
 primary_id: MESH:C564858
 alt_id: OMIA:000844;   OMIM:266200
 xref: GARD:7514;   NCI:C99037;   ORDO:766


show annotations for term's descendants           Sort by:
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Pklr pyruvate kinase L/R ISO
ISS		 human gene complementing mouse knockout
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
DNA:missense mutation:cds:p.G338D (mouse)
CTD Direct Evidence: marker/mechanism
OMIM:266200
ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... RGD:11535996, RGD:11537382, RGD:11537470 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hemolytic anemia 347
        congenital nonspherocytic hemolytic anemia 71
          pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          anemia 778
            normocytic anemia 416
              hemolytic anemia 416
                congenital hemolytic anemia 347
                  congenital nonspherocytic hemolytic anemia 71
                    pyruvate kinase deficiency of red cells 2
paths to the root