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- B8d64fad8d8e6d72f2292e9fdf7e8aca1 NCIT_P378 "NCI" @default.
- B8d64fad8d8e6d72f2292e9fdf7e8aca1 type Axiom @default.
- B8d64fad8d8e6d72f2292e9fdf7e8aca1 annotatedProperty IAO_0000115 @default.
- B8d64fad8d8e6d72f2292e9fdf7e8aca1 annotatedSource NCIT_C99247 @default.
- B8d64fad8d8e6d72f2292e9fdf7e8aca1 annotatedTarget "A rare autosomal recessive inherited disorder that is manifested in the neonatal period and is caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms include difficulties in feeding and breathing, skin rash, seizures, lethargy, and coma." @default.