DO_rare_slim has material basis in disease has feature vitamin metabolic disorder autosomal recessive disease combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia UMLS_CUI:C4540434 MIM:617780 ORDO:658813 UMLS_CUI:C4540434 disease_ontology ORDO:658813 A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23. CIMAH GARD:0026001 ICD10CM:E88.8 ICD10CM:E88.8 MIM:617780 DOID:0070742 GARD:0026001 MTHFD1 deficiency methylenetetrahydrofolate dehydrogenase 1 deficiency combined immunodeficiency megaloblastic anemia autosomal recessive inheritance