has material basis in germline mutation in PPT1 neuronal ceroid lipofuscinosis 1 https://github.com/monarch-initiative/mondo/issues/2665 https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 https://www.malacards.org/card/ceroid_lipofuscinosis_neuronal_1_2 ceroid lipofuscinosis, neuronal, type 1 UMLS:C1850451 ceroid lipofuscinosis neuronal 1 GARD:0001219 classic late infantile CLN (type of CLN1) ceroid storage disease neuronal ceroid lipofuscinosis caused by mutation in PPT1 CLN1 variable age at onset OMIM:256730 neuronal ceroid lipofuscinosis type 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. NCIT:C85861 Santavuori-Haltia disease CLN1 neuronal ceroid lipofuscinosis 1 congenital neuronal ceroid lipofuscinosis OMIM:214200 juvenile CLN (type of CLN1) Orphanet:228329 MEDGEN:340540 neuronal ceroid lipofuscinosis, infantile adult CLN (type of CLN1) ceroid lipofuscinosis, neuronal, 1, variable Age at onset CLN1 disease NANDO:2201241 DOID:0110721 MONDO:0009744 Santavuori disease infantile CLN (type of CLN1) ceroid lipofuscinosis, neuronal, 1 NANDO:1200152 PPT1 neuronal ceroid lipofuscinosis SCTID:720830009 infantile neuronal ceroid lipofuscinosis late infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis adult neuronal ceroid lipofuscinosis infantile neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis