neuronal ceroid lipofuscinosis 2
A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
MONDO:0016295
neuronal ceroid lipofuscinosis
is_a
CLN2
exact
CLN2 disease, juvenile (subtype)
related
CLN2 disease, late infantile (subtype)
related
TPP1 neuronal ceroid lipofuscinosis
exact
ceroid lipofuscinosis, neuronal, 2
related
ceroid lipofuscinosis, neuronal, type 2
exact
late infantile neuronal ceroid lipofuscinosis
broad
neuronal ceroid lipofuscinosis caused by mutation in TPP1
exact
neuronal ceroid lipofuscinosis type 2
exact