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- Bad4e9417a692a0325043040e8c17f734 hasDbXref "Orphanet:3167" @default.
- Bad4e9417a692a0325043040e8c17f734 type Axiom @default.
- Bad4e9417a692a0325043040e8c17f734 annotatedProperty IAO_0000115 @default.
- Bad4e9417a692a0325043040e8c17f734 annotatedSource MONDO_0017849 @default.
- Bad4e9417a692a0325043040e8c17f734 annotatedTarget "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." @default.