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- NCIT_C85861 IAO_0000115 "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." @default.
- NCIT_C85861 NCIT_NHC0 "C85861" @default.
- NCIT_C85861 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C85861 NCIT_P108 "Neuronal Ceroid Lipofuscinosis Type 1" @default.
- NCIT_C85861 NCIT_P207 "C0268281" @default.
- NCIT_C85861 NCIT_P322 "Cellosaurus" @default.
- NCIT_C85861 NCIT_R176 NCIT_C16612 @default.
- NCIT_C85861 NCIT_R176 NCIT_C178162 @default.
- NCIT_C85861 NCIT_R176 NCIT_C21281 @default.
- NCIT_C85861 NCIT_R176 NCIT_C25804 @default.
- NCIT_C85861 NCIT_R176 NCIT_C25952 @default.
- NCIT_C85861 normalizedInformationContent "100" @default.
- NCIT_C85861 referenceCount "1" @default.
- NCIT_C85861 hasExactSynonym "CLN1" @default.
- NCIT_C85861 hasExactSynonym "Infantile Neuronal Ceroid Lipofuscinosis" @default.
- NCIT_C85861 hasExactSynonym "Neuronal Ceroid Lipofuscinosis Type 1" @default.
- NCIT_C85861 hasExactSynonym "Santavuori Disease" @default.
- NCIT_C85861 inSubset NCIT_C165258 @default.
- NCIT_C85861 inSubset NCIT_C192842 @default.
- NCIT_C85861 type Class @default.
- NCIT_C85861 isDefinedBy ncit.owl @default.
- NCIT_C85861 label "Neuronal Ceroid Lipofuscinosis Type 1" @default.
- NCIT_C85861 subClassOf B4fa883dc4a57c23957539b8dbcf73b2d @default.
- NCIT_C85861 subClassOf Bf22923f439ee2fb7a9495546ebbde480 @default.
- NCIT_C85861 subClassOf NCIT_C2991 @default.
- NCIT_C85861 subClassOf NCIT_C3235 @default.
- NCIT_C85861 subClassOf NCIT_C34816 @default.
- NCIT_C85861 subClassOf NCIT_C53529 @default.
- NCIT_C85861 subClassOf NCIT_C53547 @default.
- NCIT_C85861 subClassOf NCIT_C61257 @default.
- NCIT_C85861 subClassOf NCIT_C7057 @default.
- NCIT_C85861 subClassOf NCIT_C85861 @default.