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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 the ATP11C gene on chromosome Xq27.1. (DO)
Synonyms:exact_synonym: ATP11C-RELATED CONDITION;   HACXL
 primary_id: MIM:301015


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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: ATP11C-related condition | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia OMIM
ClinVar		 PMID:25741868 PMID:26944472 PMID:28492532 NCBI chr  X:143,600,763...143,788,407
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    physical disorder 5203
      congenital hemolytic anemia 365
        X-linked congenital hemolytic anemia 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      Hemic and Lymphatic Diseases 4336
        hematopoietic system disease 3844
          anemia 866
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  X-linked congenital hemolytic anemia 1
paths to the root