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- B6231eb992cb7b9605297dcad7aed304e hasDbXref "OMIM:261100" @default.
- B6231eb992cb7b9605297dcad7aed304e type Axiom @default.
- B6231eb992cb7b9605297dcad7aed304e annotatedProperty IAO_0000115 @default.
- B6231eb992cb7b9605297dcad7aed304e annotatedSource MONDO_0100156 @default.
- B6231eb992cb7b9605297dcad7aed304e annotatedTarget "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." @default.