ZFIN Human Disease: pyruvate kinase deficiency of red cells

OBO ID: DOID:0111077

Term Name:	pyruvate kinase deficiency of red cells		Search Ontology:
Synonyms:	hemolytic anemia due to red cell pyruvate kinase deficiency PK deficiency pyruvate kinase deficiency of erythrocyte
Definition:	A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (3)
References:	GARD:7514 MESH:C564858 OMIM:266200 ORDO:766
Ontology:	Human Disease ( DOID:0111077 )

Relationships

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

OTHER pyruvate kinase deficiency of red cells PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PKLR	pklr	Pyruvate kinase deficiency	266200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None