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- B795b07992417512ce0ad80e0cdb96caf hasDbXref "Orphanet:293925" @default.
- B795b07992417512ce0ad80e0cdb96caf type Axiom @default.
- B795b07992417512ce0ad80e0cdb96caf annotatedProperty IAO_0000115 @default.
- B795b07992417512ce0ad80e0cdb96caf annotatedSource MONDO_0013740 @default.
- B795b07992417512ce0ad80e0cdb96caf annotatedTarget "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." @default.