About: Cockayne Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Cockayne Syndrome
rdfs:subClassOf	Syndrome Genetic Disorder
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
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0004689
is someValuesFrom of	nodeID://b665463 nodeID://b665491 nodeID://b665500 nodeID://b669306 nodeID://b669328 nodeID://b669336
is sameAs of	Cockayne Syndrome

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