ZFIN Human Disease: congenital dyserythropoietic anemia type II

OBO ID: DOID:0111401

Term Name:	congenital dyserythropoietic anemia type II		Search Ontology:
Synonyms:	CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 congenital dyserythropoietic anaemia type II Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG
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. https://www.ncbi.nlm.nih.gov/pubmed/19561605
References:	GARD:2001 MESH:D000742 NCI:C175991 OMIM:224100 ORDO:98873 SNOMEDCT_US_2023_03_01:68870007 UMLS_CUI:C1306589
Ontology:	Human Disease ( DOID:0111401 )

Relationships

is a type of:	autosomal recessive disease congenital dyserythropoietic anemia autosomal recessive disease congenital dyserythropoietic anemia Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SEC23B	sec23b	Dyserythropoietic anemia, congenital, type II	224100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None