hereditary folate malabsorption
congenital defect of folate absorption
related
congenital folate malabsorption
exact
folic acid transport defect
related
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
SPAC14C4.07