Kw 0901
cv_term_accession
KW-0901
canonical
uniprot_keyword
KW-0901
canonical
name
Leber congenital amaurosis
uniprot
definition
Protein which, if defective, causes Leber congenital amaurosis, a clinically and genetically heterogeneous type of blindness transmitted as an autosomal recessive trait and occurring at or shortly after birth. It is associated with an atypical form of diffuse pigmentation and commonly with optic atrophy and attenuation of the retinal vessels.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords