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About: congenital dyserythropoietic anemia type III     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • congenital dyserythropoietic anemia type III
described by
id
  • DOID:0111399
database_cross_reference
  • GARD:2002
  • MESH:D000742
  • OMIM:105600
  • ORDO:98870
  • SNOMEDCT_US_2021_09_01:26409005
  • UMLS_CUI:C0271934
has_exact_synonym
  • CDA III (en)
  • CDA type 3 (en)
  • CDA type III (en)
  • CDAN3 (en)
  • Congenital dyserythropoietic anaemia type 3 (en)
  • Congenital dyserythropoietic anemia type 3 (en)
  • anaemia with multinucleated erythroblasts (en)
  • anemia with multinucleated erythroblasts (en)
  • congenital dyserythropoietic anaemia type III (en)
  • hereditary benign erythroreticulosis (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25.
is topic of
is annotatedSource of
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