About: congenital dyserythropoietic anemia type IV

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease congenital dyserythropoietic anemia nodeID://b50944744 nodeID://b50944745
label	congenital dyserythropoietic anemia type IV
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111400
database_cross_reference	NCI:C157148 OMIM:613673 ORDO:293825 SNOMEDCT_US_2021_09_01:719453009 UMLS_CUI:C3150926
has_exact_synonym	Congenital dyserythropoietic anemia due to KLF1 mutation (en) CDA IV (en) CDA due to KLF1 mutation (en) CDA type 4 (en) CDA type IV (en) CDAN4 (en) Congenital dyserythropoietic anaemia type 4 (en) Congenital dyserythropoietic anemia type 4 (en) congenital dyserythropoietic anaemia type IV (en) Congenital dyserythropoietic anaemia due to KLF1 mutation (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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 KLF1 on chromosome 19p13.13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944746

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