neuronal ceroid lipofuscinosis 1
A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
MONDO:0015674
late infantile neuronal ceroid lipofuscinosis
excluded_subClassOf
MONDO:0019260
adult neuronal ceroid lipofuscinosis
excluded_subClassOf
MONDO:0019261
infantile neuronal ceroid lipofuscinosis
excluded_subClassOf
MONDO:0019262
juvenile neuronal ceroid lipofuscinosis
excluded_subClassOf
MONDO:0016295
neuronal ceroid lipofuscinosis
is_a
CLN1
exact
CLN1 disease
exact
CLN1 variable age at onset
exact
PPT1 neuronal ceroid lipofuscinosis
exact
Santavuori disease
narrow
Santavuori-Haltia disease
narrow
adult CLN (type of CLN1)
narrow
ceroid lipofuscinosis neuronal 1
exact
ceroid lipofuscinosis, neuronal, 1
exact
ceroid lipofuscinosis, neuronal, 1, variable Age at onset
exact
ceroid lipofuscinosis, neuronal, type 1
exact
ceroid storage disease
exact
classic late infantile CLN (type of CLN1)
narrow
congenital neuronal ceroid lipofuscinosis
related
infantile CLN (type of CLN1)
narrow
infantile neuronal ceroid lipofuscinosis
narrow
juvenile CLN (type of CLN1)
narrow
neuronal ceroid lipofuscinosis 1
exact
neuronal ceroid lipofuscinosis caused by mutation in PPT1
exact
neuronal ceroid lipofuscinosis type 1
exact
neuronal ceroid lipofuscinosis, infantile
narrow
SPBC530.12c