neuronal ceroid lipofuscinosis 2
http://purl.obolibrary.org/obo/MONDO_0008769
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. [ NCIT:C85864 ]
Term info
- Orphanet:228349 (OMIM:204500)
- GARD:0003045 (MONDO:equivalentTo)
- OMIM:204500 (Orphanet:228349/e)
- NCIT:C85864 (MONDO:equivalentTo)
- DOID:0110726 (MONDO:equivalentTo)
ordo_etiological_subtype
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.
http://purl.obolibrary.org/obo/DOID_0110726, http://purl.obolibrary.org/obo/NCIT_C85864, https://omim.org/entry/204500, http://purl.obolibrary.org/obo/Orphanet_228349
late infantile neuronal ceroid lipofuscinosis
CLN2, neuronal ceroid lipofuscinosis caused by mutation in TPP1, neuronal ceroid lipofuscinosis 2 variable age at onset, neuronal ceroid lipofuscinosis type 2, ceroid lipofuscinosis, neuronal, type 2, TPP1 neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis, late infantile, Jansky-Bielschowsky disease, ceroid lipofuscinosis, neuronal, 2, variable Age at onset, ceroid lipofuscinosis, neuronal, 2, CLN2 disease, juvenile (subtype), CLN2 disease, late infantile (subtype), CLN2 disease
MONDO:0008769