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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:congenital nonspherocytic hemolytic anemia 5
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Accession:DOID:0051006 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. (DO)
Synonyms:exact_synonym: CNSHA5;   Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
 alt_id: DOID:9006276
 xref: MIM:235700;   MONDO:0009340


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congenital nonspherocytic hemolytic anemia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5 | ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY OMIM
ClinVar		 PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital hemolytic anemia 365
        congenital nonspherocytic hemolytic anemia 73
          congenital nonspherocytic hemolytic anemia 5 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Hemic and Lymphatic Diseases 4329
        hematopoietic system disease 3837
          anemia 867
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital nonspherocytic hemolytic anemia 73
                    congenital nonspherocytic hemolytic anemia 5 1
paths to the root