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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563680 similar to CDNA sequence BC052040 JBrowse link 3 107,142,734 107,347,381 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal recessive disease 2118
                congenital dyserythropoietic anemia type Ib 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      Hemic and Lymphatic Diseases 1742
        hematopoietic system disease 1465
          anemia 379
            normocytic anemia 176
              hemolytic anemia 176
                congenital hemolytic anemia 127
                  congenital dyserythropoietic anemia 8
                    congenital dyserythropoietic anemia type I 2
                      congenital dyserythropoietic anemia type Ib 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.