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- B7dd49aea97b5c123d0c70a6b9921bc39 hasDbXref "https://www.ncbi.nlm.nih.gov/gtr/conditions/C1855705/" @default.
- B7dd49aea97b5c123d0c70a6b9921bc39 type Axiom @default.
- B7dd49aea97b5c123d0c70a6b9921bc39 annotatedProperty IAO_0000115 @default.
- B7dd49aea97b5c123d0c70a6b9921bc39 annotatedSource MONDO_0009477 @default.
- B7dd49aea97b5c123d0c70a6b9921bc39 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.