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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 3
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Accession:DOID:0051004 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: ADENYLATE KINASE DEFICIENCY;   CNSHA3;   Hemolytic Anemia due to Adenylate Kinase Deficiency
 alt_id: DOID:9005319
 xref: MESH:C567228;   MIM:612631;   MONDO:0012967;   ORDO:86817


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congenital nonspherocytic hemolytic anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    physical disorder 5185
      congenital hemolytic anemia 364
        congenital nonspherocytic hemolytic anemia 73
          congenital nonspherocytic hemolytic anemia 3 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      Hemic and Lymphatic Diseases 4336
        hematopoietic system disease 3826
          anemia 863
            normocytic anemia 753
              hemolytic anemia 431
                congenital hemolytic anemia 364
                  congenital nonspherocytic hemolytic anemia 73
                    congenital nonspherocytic hemolytic anemia 3 1
paths to the root