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Metadata
ID DOID:0111401
Name congenital dyserythropoietic anemia type II
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/19561605
Xrefs

GARD:2001

MESH:D000742

OMIM:224100

ORDO:98873

SNOMEDCT_US_2019_09_01:68870007

UMLS_CUI:C1306589

Synonyms

CDA II [EXACT]

CDA type 2 [EXACT]

CDA type II [EXACT]

CDAN2 [EXACT]

Congenital dyserythropoietic anaemia type 2 [EXACT]

congenital dyserythropoietic anaemia type II [EXACT]

Congenital dyserythropoietic anemia type 2 [EXACT]

Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) [EXACT]

SEC23B-CDG [EXACT]

Parent Relationships

is_a congenital dyserythropoietic anemia

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