Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7bab5dc9df8e4773947037f51e54d866> ?p ?o ?g. }
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- B7bab5dc9df8e4773947037f51e54d866 NCIT_P378 "NCI" @default.
- B7bab5dc9df8e4773947037f51e54d866 type Axiom @default.
- B7bab5dc9df8e4773947037f51e54d866 annotatedProperty IAO_0000115 @default.
- B7bab5dc9df8e4773947037f51e54d866 annotatedSource NCIT_C74997 @default.
- B7bab5dc9df8e4773947037f51e54d866 annotatedTarget "A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia." @default.