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AttributesValues
rdf:type
rdfs:label
  • Cockayne Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Cockayne Syndrome
UMLS_CUI
  • C0009207
ALT_DEFINITION
  • A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.NCI-GLOSS
Legacy_Concept_Name
  • Cockayne_Syndrome
FULL_SYN
  • Cockayne syndromePTNCI-GLOSSCDR0000045491
  • Cockayne SyndromePTNCI
DEFINITION
  • An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.NCI
code
  • C9460
is someValuesFrom of
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