neuronal ceroid lipofuscinosis 2
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
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neuronal ceroid lipofuscinosis 2
Summary
neuronal ceroid lipofuscinosis 2 is a class of disease[1].
Key Facts
- neuronal ceroid lipofuscinosis 2's instance of is recorded as class of disease[2].
- neuronal ceroid lipofuscinosis 2 is a type of neuronal ceroid lipofuscinosis[3].
- neuronal ceroid lipofuscinosis 2 is a type of juvenile neuronal ceroid lipofuscinosis[4].
- neuronal ceroid lipofuscinosis 2 is a type of Jansky–Bielschowsky disease[5].
- neuronal ceroid lipofuscinosis 2 is a type of genetic disease[6].
- neuronal ceroid lipofuscinosis 2's NCI Thesaurus ID is recorded as C85864[7].
- neuronal ceroid lipofuscinosis 2's genetic association is recorded as TPP1[8].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110726[9].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://identifiers.org/doid/DOID:0110726[10].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_168491[11].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_228349[12].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79264[13].
- neuronal ceroid lipofuscinosis 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].