Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B351d9e0d8f75b14c85cc15bfa3f15e4a> ?p ?o ?g. }
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- B351d9e0d8f75b14c85cc15bfa3f15e4a hasDbXref "Orphanet:88618" @default.
- B351d9e0d8f75b14c85cc15bfa3f15e4a type Axiom @default.
- B351d9e0d8f75b14c85cc15bfa3f15e4a annotatedProperty IAO_0000115 @default.
- B351d9e0d8f75b14c85cc15bfa3f15e4a annotatedSource MONDO_0013404 @default.
- B351d9e0d8f75b14c85cc15bfa3f15e4a annotatedTarget "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." @default.