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- NCIT_C155757 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease." @default.
- NCIT_C155757 NCIT_NHC0 "C155757" @default.
- NCIT_C155757 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C155757 NCIT_P108 "Peroxisome Biogenesis Disorder 5B" @default.
- NCIT_C155757 NCIT_P207 "C3542026" @default.
- NCIT_C155757 NCIT_R100 NCIT_C12219 @default.
- NCIT_C155757 NCIT_R100 NCIT_C12755 @default.
- NCIT_C155757 NCIT_R100 NCIT_C12919 @default.
- NCIT_C155757 normalizedInformationContent "100" @default.
- NCIT_C155757 referenceCount "1" @default.
- NCIT_C155757 hasExactSynonym "PBD5B" @default.
- NCIT_C155757 hasExactSynonym "Peroxisome Biogenesis Disorder 5B" @default.
- NCIT_C155757 type Class @default.
- NCIT_C155757 isDefinedBy ncit.owl @default.
- NCIT_C155757 label "Peroxisome Biogenesis Disorder 5B" @default.
- NCIT_C155757 subClassOf NCIT_C155747 @default.
- NCIT_C155757 subClassOf NCIT_C155757 @default.
- NCIT_C155757 subClassOf NCIT_C26835 @default.
- NCIT_C155757 subClassOf NCIT_C27551 @default.
- NCIT_C155757 subClassOf NCIT_C27588 @default.
- NCIT_C155757 subClassOf NCIT_C2991 @default.
- NCIT_C155757 subClassOf NCIT_C4873 @default.
- NCIT_C155757 subClassOf NCIT_C53529 @default.
- NCIT_C155757 subClassOf NCIT_C53531 @default.
- NCIT_C155757 subClassOf NCIT_C53543 @default.
- NCIT_C155757 subClassOf NCIT_C53547 @default.
- NCIT_C155757 subClassOf NCIT_C61253 @default.
- NCIT_C155757 subClassOf NCIT_C7057 @default.