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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 dyserythropoietic anemia type Ia
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Accession:DOID:0111398 term browser browse the term
Definition:A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in CDAN1 on chromosome 15q15.2. (DO)
Synonyms:exact_synonym: CDA Ia;   CDAN1A
 primary_id: OMIM:224120
For additional species annotation, visit the Alliance of Genome Resources.


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congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO OMIM NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital hemolytic anemia 136
        congenital dyserythropoietic anemia 9
          congenital dyserythropoietic anemia type I 2
            congenital dyserythropoietic anemia type Ia 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          anemia 415
            normocytic anemia 179
              hemolytic anemia 179
                congenital hemolytic anemia 136
                  congenital dyserythropoietic anemia 9
                    congenital dyserythropoietic anemia type I 2
                      congenital dyserythropoietic anemia type Ia 1
paths to the root