Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bdb458f70b6439dec2d48391cad881812> ?p ?o ?g. }
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- Bdb458f70b6439dec2d48391cad881812 NCIT_P378 "NCI" @default.
- Bdb458f70b6439dec2d48391cad881812 type Axiom @default.
- Bdb458f70b6439dec2d48391cad881812 annotatedProperty IAO_0000115 @default.
- Bdb458f70b6439dec2d48391cad881812 annotatedSource NCIT_C133724 @default.
- Bdb458f70b6439dec2d48391cad881812 annotatedTarget "An autosomal recessive neurologic condition caused by mutation(s) in the SLC52A3 gene, encoding solute carrier family 52, riboflavin transporter, member 3. It is characterized by sensorineural hearing loss and varying cranial nerve palsies, usually affecting the motor components of the seventh and ninth to twelfth cranial nerves. Spinal motor nerves are often affected. Mutations in SLC52A3 may result in Faxio-Lone disease, which is a similar condition, but sensorineural deafness is not present." @default.