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- NCIT_C133724 IAO_0000115 "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.
- NCIT_C133724 NCIT_NHC0 "C133724" @default.
- NCIT_C133724 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C133724 NCIT_P108 "Brown-Vialetto-Van Laere Syndrome 1" @default.
- NCIT_C133724 NCIT_P207 "C0796274" @default.
- NCIT_C133724 NCIT_P322 "Cellosaurus" @default.
- NCIT_C133724 NCIT_R100 NCIT_C12219 @default.
- NCIT_C133724 NCIT_R100 NCIT_C12466 @default.
- NCIT_C133724 NCIT_R100 NCIT_C12700 @default.
- NCIT_C133724 NCIT_R100 NCIT_C12755 @default.
- NCIT_C133724 NCIT_R100 NCIT_C12919 @default.
- NCIT_C133724 NCIT_R100 NCIT_C13040 @default.
- NCIT_C133724 NCIT_R100 NCIT_C32221 @default.
- NCIT_C133724 NCIT_R108 NCIT_C26835 @default.
- NCIT_C133724 NCIT_R108 NCIT_C27036 @default.
- NCIT_C133724 NCIT_R108 NCIT_C27551 @default.
- NCIT_C133724 NCIT_R108 NCIT_C27588 @default.
- NCIT_C133724 NCIT_R108 NCIT_C2991 @default.
- NCIT_C133724 NCIT_R108 NCIT_C53529 @default.
- NCIT_C133724 NCIT_R108 NCIT_C53531 @default.
- NCIT_C133724 NCIT_R108 NCIT_C7057 @default.
- NCIT_C133724 NCIT_R176 NCIT_C16612 @default.
- NCIT_C133724 NCIT_R176 NCIT_C191788 @default.
- NCIT_C133724 NCIT_R176 NCIT_C21295 @default.
- NCIT_C133724 NCIT_R176 NCIT_C28533 @default.
- NCIT_C133724 normalizedInformationContent "100" @default.
- NCIT_C133724 referenceCount "1" @default.
- NCIT_C133724 hasExactSynonym "BVVLS1" @default.
- NCIT_C133724 hasExactSynonym "Brown-Vialetto-Van Laere Syndrome 1" @default.
- NCIT_C133724 hasExactSynonym "Bulbar Palsy, Progressive, with Sensorineural Deafness" @default.
- NCIT_C133724 inSubset NCIT_C165258 @default.
- NCIT_C133724 inSubset NCIT_C192842 @default.
- NCIT_C133724 type Class @default.
- NCIT_C133724 isDefinedBy ncit.owl @default.
- NCIT_C133724 label "Brown-Vialetto-Van Laere Syndrome 1" @default.
- NCIT_C133724 subClassOf B0448e8138e5d5df2181d1462e6991dec @default.
- NCIT_C133724 subClassOf B3e00ef86abaeaa716fb9762290481657 @default.
- NCIT_C133724 subClassOf NCIT_C133724 @default.
- NCIT_C133724 subClassOf NCIT_C197818 @default.
- NCIT_C133724 subClassOf NCIT_C26733 @default.
- NCIT_C133724 subClassOf NCIT_C26835 @default.
- NCIT_C133724 subClassOf NCIT_C26941 @default.
- NCIT_C133724 subClassOf NCIT_C27036 @default.
- NCIT_C133724 subClassOf NCIT_C27551 @default.
- NCIT_C133724 subClassOf NCIT_C27588 @default.
- NCIT_C133724 subClassOf NCIT_C28193 @default.
- NCIT_C133724 subClassOf NCIT_C2991 @default.
- NCIT_C133724 subClassOf NCIT_C4873 @default.
- NCIT_C133724 subClassOf NCIT_C53529 @default.
- NCIT_C133724 subClassOf NCIT_C53531 @default.
- NCIT_C133724 subClassOf NCIT_C53543 @default.
- NCIT_C133724 subClassOf NCIT_C53547 @default.
- NCIT_C133724 subClassOf NCIT_C7057 @default.
- NCIT_C133724 subClassOf NCIT_C85026 @default.