@prefix vh8: <http://data.loterre.fr/ark:/67375/VH8> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .

vh8: a skos:ConceptScheme .
vh8:-T4XJ4RLD-P
  skos:prefLabel "cancer"@fr, "cancer"@en ;
  a skos:Concept ;
  skos:narrower vh8:-RJPT8CP6-9 .

vh8:-N32K7HZ8-D
  skos:prefLabel "hereditary disease"@en, "maladie héréditaire"@fr ;
  a skos:Concept ;
  skos:narrower vh8:-RJPT8CP6-9 .

vh8:-RJPT8CP6-9
  skos:inScheme vh8: ;
  skos:altLabel "Seemanova syndrome type 2"@en, "syndrome de Nijmegen"@fr, "syndrome de Seemanova de type 2"@fr ;
  skos:exactMatch <https://en.wikipedia.org/wiki/Nijmegen_breakage_syndrome>, <https://www.wikidata.org/wiki/Q1250362>, <https://fr.wikipedia.org/wiki/Syndrome_de_Nim%C3%A8gue> ;
  skos:prefLabel "syndrome de Nimègue"@fr, "Nijmegen breakage syndrome"@en ;
  skos:broader vh8:-T4XJ4RLD-P, vh8:-HFVJ6MCG-6, vh8:-Z080LN2C-5, vh8:-N32K7HZ8-D, vh8:-DWZ6Z6N8-Q ;
  skos:definition "Décrit en 1981, le syndrome de Nimègue, en anglais Nijmegen breakage syndrome abrégé en NBS, est une maladie autosomique récessive rare. (Wikipédia)"@fr, "Nijmegen breakage syndrome (NBS), is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).NBS1 codes for a protein (nibrin) that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. (Wikipedia)"@en ;
  a skos:Concept .

vh8:-HFVJ6MCG-6
  skos:prefLabel "nervous system diseases"@en, "pathologie du système nerveux"@fr ;
  a skos:Concept ;
  skos:narrower vh8:-RJPT8CP6-9 .

vh8:-Z080LN2C-5
  skos:prefLabel "chromosome fragility"@en, "fragilité chromosomique"@fr ;
  a skos:Concept ;
  skos:narrower vh8:-RJPT8CP6-9 .

vh8:-DWZ6Z6N8-Q
  skos:prefLabel "immunopathologie"@fr, "immunopathology"@en ;
  a skos:Concept ;
  skos:narrower vh8:-RJPT8CP6-9 .