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- NCIT_C84598 IAO_0000115 "A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia." @default.
- NCIT_C84598 NCIT_NHC0 "C84598" @default.
- NCIT_C84598 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84598 NCIT_P108 "Biotinidase Deficiency" @default.
- NCIT_C84598 NCIT_P207 "C0220754" @default.
- NCIT_C84598 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84598 NCIT_P322 "NICHD" @default.
- NCIT_C84598 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84598 NCIT_R176 NCIT_C190311 @default.
- NCIT_C84598 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84598 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84598 normalizedInformationContent "100" @default.
- NCIT_C84598 referenceCount "1" @default.
- NCIT_C84598 hasExactSynonym "Biotinidase Deficiency" @default.
- NCIT_C84598 inSubset NCIT_C165258 @default.
- NCIT_C84598 inSubset NCIT_C192842 @default.
- NCIT_C84598 inSubset NCIT_C90259 @default.
- NCIT_C84598 inSubset NCIT_C99147 @default.
- NCIT_C84598 type Class @default.
- NCIT_C84598 isDefinedBy ncit.owl @default.
- NCIT_C84598 label "Biotinidase Deficiency" @default.
- NCIT_C84598 subClassOf Bba5dcf772c8107880fc1675c59d0464c @default.
- NCIT_C84598 subClassOf Bfb41c9d939ac5ecfce9c0d386168ef36 @default.
- NCIT_C84598 subClassOf NCIT_C2991 @default.
- NCIT_C84598 subClassOf NCIT_C3235 @default.
- NCIT_C84598 subClassOf NCIT_C34816 @default.
- NCIT_C84598 subClassOf NCIT_C4873 @default.
- NCIT_C84598 subClassOf NCIT_C53529 @default.
- NCIT_C84598 subClassOf NCIT_C53543 @default.
- NCIT_C84598 subClassOf NCIT_C53547 @default.
- NCIT_C84598 subClassOf NCIT_C7057 @default.
- NCIT_C84598 subClassOf NCIT_C84598 @default.