Cockayne syndrome
cv_term_accession
KW-0172
canonical
uniprot_keyword
KW-0172
canonical
name
Cockayne syndrome
uniprot
synonym
CS
uniprot
synonym
Cockayne's syndrome
uniprot
definition
Protein which, if defective, causes Cockayne's syndrome (CS), an autosomal recessive disease characterized by UV-sensitive skin (without pigmentation abnormalities), neurological dysfunction due to demyelination of neurons and calcification of basal ganglia (psychomotor retardation, deafness, optic atrophy, retinal pigmentation and hyperreflexes) and dysmorphic dwarfism (immature sexual development and microcephaly).
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords