has material basis in germline mutation in SLC46A1 megaloblastic anemia hereditary folate malabsorption https://github.com/monarch-initiative/mondo/issues/6743 https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption https://www.malacards.org/card/folate_malabsorption_hereditary MONDO:0009238 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. MESH:C562799 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) congenital folate malabsorption congenital defect of folate absorption UMLS:C0342705 NANDO:1200810 OMIM:229050 folic acid transport defect NANDO:2200592 MEDGEN:83348 NCIT:C156424 SCTID:62578003 GARD:0012983 icd11.foundation:773545237 DOID:0111678 Orphanet:90045 hereditary anemia disorder of folate metabolism and transport malabsorption syndrome