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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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                congenital dyserythropoietic anemia type Ia 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          anemia 405
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 133
                  congenital dyserythropoietic anemia 8
                    congenital dyserythropoietic anemia type I 2
                      congenital dyserythropoietic anemia type Ia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.