ZFIN Human Disease: congenital dyserythropoietic anemia type IV

OBO ID: DOID:0111400

Term Name:	congenital dyserythropoietic anemia type IV		Search Ontology:
Synonyms:	CDA due to KLF1 mutation CDA IV CDA type 4 CDA type IV CDAN4 Congenital dyserythropoietic anaemia due to KLF1 mutation Congenital dyserythropoietic anaemia type 4 congenital dyserythropoietic anaemia type IV Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia type 4
Definition:	A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. https://www.ncbi.nlm.nih.gov/pubmed/21055716
References:	NCI:C157148 OMIM:613673 ORDO:293825 SNOMEDCT_US_2023_03_01:719453009 UMLS_CUI:C3150926
Ontology:	Human Disease ( DOID:0111400 )

Relationships

is a type of:	autosomal dominant disease congenital dyserythropoietic anemia autosomal dominant 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
KLF1	klf1	Dyserythropoietic anemia, congenital, type IV	613673

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None