FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital dyserythropoietic anemia type II ID (Ontology) DOID:0111401 (Human Disease)
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 the SEC23B gene on chromosome 20p11.23.
Also Known As "CDA II" ; "CDA type 2" ; "CDA type II" (for all, see Synonyms field below)
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 Genes
 congenital dyserythropoietic anemia type II       1
 for disease ribbon | congenital dyserythropoietic anemia type II       1
 model of | congenital dyserythropoietic anemia type II       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________
congenital hemolytic anemia              |
 |__congenital dyserythropoietic anemia__|
                                         congenital dyserythropoietic anemia type II  1 rec.
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Is a autosomal recessive disease
congenital dyserythropoietic anemia
Part of
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Synonyms
  • "CDA II" EXACT OMO:0003012
    "CDA type 2" EXACT
    "CDA type II" EXACT
    "CDAN2" EXACT OMO:0003012
    "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 OMO:0003012
Secondary IDs
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GARD:2001
MESH:D000742
MIM:224100
NCI:C175991
ORDO:98873
SNOMEDCT_US_2023_03_01:68870007
UMLS_CUI:C1306589