Senior-Loken syndrome
cv_term_accession
KW-0980
canonical
uniprot_keyword
KW-0980
canonical
name
Senior-Loken syndrome
uniprot
synonym
Juvenile nephronophthisis with Leber amaurosis
uniprot
synonym
Loken-Senior syndrome
uniprot
synonym
Renal dysplasia and retinal aplasia
uniprot
synonym
Renal-retinal syndrome
uniprot
synonym
Senior-Loeken syndrome
uniprot
definition
Protein which, if defective, causes Senior-Loken syndrome, a genetically and clinically heterogeneous disease characterized by nephronophthisis and retinal abnormalities manifesting as congenital retinal blindness or retinitis pigmentosa. Senior-Loken syndrome can be associated with manifestations such as cerebellar ataxia and skeletal abnormalities including cone epiphyses.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
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uniprot
keywords