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- Bf4e3811e757e203cb7de0f5aa39d1efa hasDbXref "Orphanet:369861" @default.
- Bf4e3811e757e203cb7de0f5aa39d1efa type Axiom @default.
- Bf4e3811e757e203cb7de0f5aa39d1efa annotatedProperty IAO_0000115 @default.
- Bf4e3811e757e203cb7de0f5aa39d1efa annotatedSource MONDO_0014487 @default.
- Bf4e3811e757e203cb7de0f5aa39d1efa annotatedTarget "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." @default.