Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbae846977d3b4959163c174a9941a514> ?p ?o ?g. }
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- Bbae846977d3b4959163c174a9941a514 NCIT_P378 "NCI" @default.
- Bbae846977d3b4959163c174a9941a514 type Axiom @default.
- Bbae846977d3b4959163c174a9941a514 annotatedProperty IAO_0000115 @default.
- Bbae846977d3b4959163c174a9941a514 annotatedSource NCIT_C74997 @default.
- Bbae846977d3b4959163c174a9941a514 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.