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congenital intrinsic factor deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
Uniprot Description Autosomal recessive disorder characterized by megaloblastic anemia.
Disease Ontology Description A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
Mondo Term and Equivalent IDs
MONDO:0009852:  congenital intrinsic factor deficiency
GARD:0003024: 
MESH:C563242: 
Orphanet:332: 
SCTID:34925000: