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- NCIT_C183529 IAO_0000115 "A rare autosomal recessive condition caused by mutation(s) in the SLC52A2 gene, encoding solute carrier family 52, riboflavin transporter, member 2. It is characterized by progressive pontobulbar palsy associated with sensorineural deafness, which may include respiratory compromise." @default.
- NCIT_C183529 NCIT_NHC0 "C183529" @default.
- NCIT_C183529 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C183529 NCIT_P108 "Brown-Vialetto-Van Laere Syndrome 2" @default.
- NCIT_C183529 NCIT_P207 "C3553538" @default.
- NCIT_C183529 NCIT_P322 "Cellosaurus" @default.
- NCIT_C183529 NCIT_R100 NCIT_C12219 @default.
- NCIT_C183529 NCIT_R100 NCIT_C12466 @default.
- NCIT_C183529 NCIT_R100 NCIT_C12700 @default.
- NCIT_C183529 NCIT_R100 NCIT_C12755 @default.
- NCIT_C183529 NCIT_R100 NCIT_C12919 @default.
- NCIT_C183529 NCIT_R100 NCIT_C13040 @default.
- NCIT_C183529 NCIT_R100 NCIT_C32221 @default.
- NCIT_C183529 NCIT_R108 NCIT_C26835 @default.
- NCIT_C183529 NCIT_R108 NCIT_C27036 @default.
- NCIT_C183529 NCIT_R108 NCIT_C27551 @default.
- NCIT_C183529 NCIT_R108 NCIT_C27588 @default.
- NCIT_C183529 NCIT_R108 NCIT_C2991 @default.
- NCIT_C183529 NCIT_R108 NCIT_C53529 @default.
- NCIT_C183529 NCIT_R108 NCIT_C53531 @default.
- NCIT_C183529 NCIT_R108 NCIT_C7057 @default.
- NCIT_C183529 NCIT_R176 NCIT_C16612 @default.
- NCIT_C183529 NCIT_R176 NCIT_C191791 @default.
- NCIT_C183529 NCIT_R176 NCIT_C21295 @default.
- NCIT_C183529 NCIT_R176 NCIT_C28533 @default.
- NCIT_C183529 normalizedInformationContent "100" @default.
- NCIT_C183529 referenceCount "1" @default.
- NCIT_C183529 hasExactSynonym "BVVLS2" @default.
- NCIT_C183529 hasExactSynonym "Brown-Vialetto-Van Laere Syndrome 2" @default.
- NCIT_C183529 inSubset NCIT_C165258 @default.
- NCIT_C183529 inSubset NCIT_C192842 @default.
- NCIT_C183529 type Class @default.
- NCIT_C183529 isDefinedBy ncit.owl @default.
- NCIT_C183529 label "Brown-Vialetto-Van Laere Syndrome 2" @default.
- NCIT_C183529 subClassOf B891fca78a4ec4cab2cc223ea63571716 @default.
- NCIT_C183529 subClassOf B90d46c74d1cfa04d13bc2c8754991e72 @default.
- NCIT_C183529 subClassOf NCIT_C183529 @default.
- NCIT_C183529 subClassOf NCIT_C197818 @default.
- NCIT_C183529 subClassOf NCIT_C26733 @default.
- NCIT_C183529 subClassOf NCIT_C26835 @default.
- NCIT_C183529 subClassOf NCIT_C26941 @default.
- NCIT_C183529 subClassOf NCIT_C27036 @default.
- NCIT_C183529 subClassOf NCIT_C27551 @default.
- NCIT_C183529 subClassOf NCIT_C27588 @default.
- NCIT_C183529 subClassOf NCIT_C28193 @default.
- NCIT_C183529 subClassOf NCIT_C2991 @default.
- NCIT_C183529 subClassOf NCIT_C4873 @default.
- NCIT_C183529 subClassOf NCIT_C53529 @default.
- NCIT_C183529 subClassOf NCIT_C53531 @default.
- NCIT_C183529 subClassOf NCIT_C53543 @default.
- NCIT_C183529 subClassOf NCIT_C53547 @default.
- NCIT_C183529 subClassOf NCIT_C7057 @default.
- NCIT_C183529 subClassOf NCIT_C85026 @default.