has material basis in germline mutation in CUBN autosomal recessive disease Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome type 1 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/imerslund_grasbeck_syndrome_1 pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria MEDGEN:865256 Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome 1 GARD:0026066 megaloblastic anemia, Finnish type enterocyte cobalamin malabsorption enterocyte intrinsic factor receptor, defect of OMIM:261100 MONDO:0100156 MGA-1 MGA1 Mga1 megaloblastic Anemia type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. megaloblastic Anaemia type 1 NCIT:C131677 megaloblastic anemia, 1 UMLS:C4016819