Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C185238> ?p ?o ?g. }
Showing items 1 to 27 of
27
with 100 items per page.
- NCIT_C185238 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the CARS2 gene, encoding probable cysteine--tRNA ligase, mitochondrial, resulting in a defect in the mitochondrial oxidative phosphorylation system. It is characterized by epileptic encephalopathy, and phenotypically variable clinical findings." @default.
- NCIT_C185238 NCIT_NHC0 "C185238" @default.
- NCIT_C185238 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C185238 NCIT_P108 "Combined Oxidative Phosphorylation Deficiency 27" @default.
- NCIT_C185238 NCIT_P207 "C4225251" @default.
- NCIT_C185238 NCIT_P322 "Cellosaurus" @default.
- NCIT_C185238 NCIT_R176 NCIT_C16612 @default.
- NCIT_C185238 NCIT_R176 NCIT_C189080 @default.
- NCIT_C185238 NCIT_R176 NCIT_C21281 @default.
- NCIT_C185238 NCIT_R176 NCIT_C25943 @default.
- NCIT_C185238 normalizedInformationContent "100" @default.
- NCIT_C185238 referenceCount "1" @default.
- NCIT_C185238 hasExactSynonym "COXPD27" @default.
- NCIT_C185238 hasExactSynonym "Combined Oxidative Phosphorylation Deficiency 27" @default.
- NCIT_C185238 inSubset NCIT_C165258 @default.
- NCIT_C185238 inSubset NCIT_C192842 @default.
- NCIT_C185238 type Class @default.
- NCIT_C185238 isDefinedBy ncit.owl @default.
- NCIT_C185238 label "Combined Oxidative Phosphorylation Deficiency 27" @default.
- NCIT_C185238 subClassOf B9a58e0dbc96ff3bdf2128fa351008356 @default.
- NCIT_C185238 subClassOf Ba3bf1c93175f7ab6a805814c0d16a993 @default.
- NCIT_C185238 subClassOf NCIT_C185238 @default.
- NCIT_C185238 subClassOf NCIT_C2991 @default.
- NCIT_C185238 subClassOf NCIT_C3235 @default.
- NCIT_C185238 subClassOf NCIT_C53529 @default.
- NCIT_C185238 subClassOf NCIT_C53547 @default.
- NCIT_C185238 subClassOf NCIT_C7057 @default.