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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:pyruvate kinase deficiency of red cells
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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;   Pyruvate Kinase Deficiency;   Pyruvate Kinase Deficiency of Erythrocyte;   hemolytic anemia due to red cell pyruvate kinase deficiency
 primary_id: MESH:C564858
 alt_id: OMIA:000844;   OMIM:266200;   RDO:0013678
 xref: GARD:7514;   NCI:C99037;   ORDO:766
For additional species annotation, visit the Alliance of Genome Resources.

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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 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
ClinVar Annotator: match by OMIM:266200
human gene complementing mouse knockout
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
DNA:missense mutation:cds:p.G338D (mouse)		 OMIM
ClinVar		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 PMID:7655861 PMID:7702630 PMID:7706479 PMID:7919353 PMID:7948315 PMID:8161798 PMID:8483951 PMID:9057665 PMID:9389718 PMID:9657767 PMID:9827908 PMID:9886305 PMID:10828047 PMID:11054094 PMID:11328279 PMID:11698298 PMID:11960989 PMID:12393511 PMID:14014643 PMID:14255553 PMID:15491302 PMID:15953013 PMID:16704447 PMID:17574881 PMID:18172691 PMID:18420493 PMID:18759866 PMID:19085939 PMID:19758413 PMID:21815188 PMID:21833022 PMID:23082140 PMID:24033266 PMID:25741868 PMID:26658699 PMID:26728349 PMID:26832193 PMID:27346685 PMID:27871768 PMID:28133914 PMID:28492532, PMID:19755962, PMID:16704447, PMID:7579416 RGD:11535996, RGD:11537382, RGD:11537470 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital hemolytic anemia 137
        congenital nonspherocytic hemolytic anemia 14
          pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Hemic and Lymphatic Diseases 2065
        hematopoietic system disease 1647
          anemia 399
            normocytic anemia 179
              hemolytic anemia 179
                congenital hemolytic anemia 137
                  congenital nonspherocytic hemolytic anemia 14
                    pyruvate kinase deficiency of red cells 2
paths to the root