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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 8
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Accession:DOID:0051007 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. (DO)
Synonyms:exact_synonym: CNSHA8;   Hemolytic Anemia due to P5N Deficiency;   Hemolytic Anemia due to Pyrimidine 5-Prime Nucleotidase Deficiency;   Hemolytic Anemia due to UMPH1 Deficiency;   Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency;   P5N Deficiency;   UMPH1 Deficiency
 alt_id: DOID:9004820
 xref: MESH:C564859;   MIM:266120;   MONDO:0009946


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congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO ClinVar Annotator: match by term: UMPH1 DEFICIENCY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:87,491,828...87,534,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    physical disorder 2432
      congenital hemolytic anemia 170
        congenital nonspherocytic hemolytic anemia 15
          congenital nonspherocytic hemolytic anemia 8 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Hemic and Lymphatic Diseases 1951
        hematopoietic system disease 1590
          anemia 438
            normocytic anemia 339
              hemolytic anemia 228
                congenital hemolytic anemia 170
                  congenital nonspherocytic hemolytic anemia 15
                    congenital nonspherocytic hemolytic anemia 8 1
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