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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:X-linked congenital hemolytic anemia
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Accession:DOID:0111846 term browser browse the term
Definition:A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in ATP11C on chromosome Xq27.1. (DO)
Synonyms:primary_id: OMIM:301015
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked congenital hemolytic anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED ClinVar
OMIM
PMID:25741868 PMID:26944472 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      congenital hemolytic anemia 156
        X-linked congenital hemolytic anemia 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          anemia 431
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  X-linked congenital hemolytic anemia 1
paths to the root