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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 Ib
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Accession:DOID:0111397 term browser browse the term
Definition:A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. (DO)
Synonyms:exact_synonym: CDA, type Ib;   CDAN1B
 primary_id: OMIM:615631
For additional species annotation, visit the Alliance of Genome Resources.


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congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib OMIM
ClinVar
PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:29885034 PMID:31191338 NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital hemolytic anemia 138
        congenital dyserythropoietic anemia 9
          congenital dyserythropoietic anemia type I 2
            congenital dyserythropoietic anemia type Ib 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Hemic and Lymphatic Diseases 2166
        hematopoietic system disease 1751
          anemia 411
            normocytic anemia 185
              hemolytic anemia 185
                congenital hemolytic anemia 138
                  congenital dyserythropoietic anemia 9
                    congenital dyserythropoietic anemia type I 2
                      congenital dyserythropoietic anemia type Ib 1
paths to the root