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- NCIT_C155763 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease." @default.
- NCIT_C155763 NCIT_NHC0 "C155763" @default.
- NCIT_C155763 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C155763 NCIT_P108 "Peroxisome Biogenesis Disorder 8B" @default.
- NCIT_C155763 NCIT_P207 "C3553960" @default.
- NCIT_C155763 NCIT_R100 NCIT_C12219 @default.
- NCIT_C155763 NCIT_R100 NCIT_C12755 @default.
- NCIT_C155763 NCIT_R100 NCIT_C12919 @default.
- NCIT_C155763 normalizedInformationContent "100" @default.
- NCIT_C155763 referenceCount "1" @default.
- NCIT_C155763 hasExactSynonym "PBD8B" @default.
- NCIT_C155763 hasExactSynonym "Peroxisome Biogenesis Disorder 8B" @default.
- NCIT_C155763 type Class @default.
- NCIT_C155763 isDefinedBy ncit.owl @default.
- NCIT_C155763 label "Peroxisome Biogenesis Disorder 8B" @default.
- NCIT_C155763 subClassOf NCIT_C155747 @default.
- NCIT_C155763 subClassOf NCIT_C155763 @default.
- NCIT_C155763 subClassOf NCIT_C26835 @default.
- NCIT_C155763 subClassOf NCIT_C27551 @default.
- NCIT_C155763 subClassOf NCIT_C27588 @default.
- NCIT_C155763 subClassOf NCIT_C2991 @default.
- NCIT_C155763 subClassOf NCIT_C4873 @default.
- NCIT_C155763 subClassOf NCIT_C53529 @default.
- NCIT_C155763 subClassOf NCIT_C53531 @default.
- NCIT_C155763 subClassOf NCIT_C53543 @default.
- NCIT_C155763 subClassOf NCIT_C53547 @default.
- NCIT_C155763 subClassOf NCIT_C61253 @default.
- NCIT_C155763 subClassOf NCIT_C7057 @default.