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- B0c6921e1bcf0eaa0ff18a06955988309 hasDbXref "https://www.ncbi.nlm.nih.gov/gtr/conditions/C1855705/" @default.
- B0c6921e1bcf0eaa0ff18a06955988309 type Axiom @default.
- B0c6921e1bcf0eaa0ff18a06955988309 annotatedProperty IAO_0000115 @default.
- B0c6921e1bcf0eaa0ff18a06955988309 annotatedSource MONDO_0009477 @default.
- B0c6921e1bcf0eaa0ff18a06955988309 annotatedTarget "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." @default.