Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B9fd6604845dfd9d2814159f542fd126a> ?p ?o ?g. }
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- B9fd6604845dfd9d2814159f542fd126a NCIT_P378 "NCI" @default.
- B9fd6604845dfd9d2814159f542fd126a type Axiom @default.
- B9fd6604845dfd9d2814159f542fd126a annotatedProperty IAO_0000115 @default.
- B9fd6604845dfd9d2814159f542fd126a annotatedSource NCIT_C126746 @default.
- B9fd6604845dfd9d2814159f542fd126a annotatedTarget "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." @default.