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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;   CDA type 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 DNA:missense mutations, nonsense mutations:cds:multiple
DNA:mutations:multiple
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:missense mutation:cds:p.R1042W (human)
ClinVar Annotator: match by term: CDA, TYPE Ia | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
OMIM
ClinVar
RGD
PMID:12434312 PMID:16098079 PMID:18081704 PMID:20301759 PMID:25741868 More... RGD:1600473, RGD:40903075, RGD:40903076, RGD:40903077 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital hemolytic anemia 204
        congenital dyserythropoietic anemia 17
          congenital dyserythropoietic anemia type I 2
            congenital dyserythropoietic anemia type Ia 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Hemic and Lymphatic Diseases 3313
        hematopoietic system disease 2848
          anemia 666
            normocytic anemia 251
              hemolytic anemia 251
                congenital hemolytic anemia 204
                  congenital dyserythropoietic anemia 17
                    congenital dyserythropoietic anemia type I 2
                      congenital dyserythropoietic anemia type Ia 1
paths to the root