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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 Methemoglobinemia
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Accession:DOID:9005309 term browser browse the term
Synonyms:primary_id: MESH:C580280;   RDO:0015908


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Congenital Methemoglobinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC476167 cytochrome b5 pseudogene ISO DNA:missense, nonsense mutations:splice junction,cds:multiple
protein:decreased activity:erythrocyte membrane:		 RGD PMID:7451647 PMID:18343696 RGD:11352693 RGD:11352695 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    physical disorder 5123
      congenital hemolytic anemia 353
        hemoglobinopathy 233
          methemoglobinemia 5
            Congenital Methemoglobinemia 1
Path 2
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15374
      Hemic and Lymphatic Diseases 4181
        hematopoietic system disease 3688
          anemia 840
            normocytic anemia 736
              hemolytic anemia 418
                congenital hemolytic anemia 353
                  hemoglobinopathy 233
                    methemoglobinemia 5
                      Congenital Methemoglobinemia 1
paths to the root