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- B8368eca9f6dcf5b69574311abac8454a NCIT_P378 "NCI" @default.
- B8368eca9f6dcf5b69574311abac8454a type Axiom @default.
- B8368eca9f6dcf5b69574311abac8454a annotatedProperty IAO_0000115 @default.
- B8368eca9f6dcf5b69574311abac8454a annotatedSource NCIT_C179667 @default.
- B8368eca9f6dcf5b69574311abac8454a annotatedTarget "A group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines syndrome, and Noonan syndrome." @default.