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About: congenital dyserythropoietic anemia type II     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 II
described by
id
  • DOID:0111401
database_cross_reference
  • GARD:2001
  • MESH:D000742
  • NCI:C175991
  • OMIM:224100
  • ORDO:98873
  • SNOMEDCT_US_2021_09_01:68870007
  • UMLS_CUI:C1306589
has_exact_synonym
  • CDA II (en)
  • CDA type 2 (en)
  • CDA type II (en)
  • CDAN2 (en)
  • Congenital dyserythropoietic anaemia type 2 (en)
  • Congenital dyserythropoietic anemia type 2 (en)
  • SEC23B-CDG (en)
  • congenital dyserythropoietic anaemia type II (en)
  • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23.
is topic of
is annotatedSource of
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