hereditary folate malabsorption
Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
MONDO:0001700
megaloblastic anemia
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0017313
disorder of folate metabolism and transport
is_a
MONDO:0020598
malabsorption syndrome
is_a
congenital defect of folate absorption
related
congenital folate malabsorption
exact
folic acid transport defect
related
SPAC14C4.07