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's subclass of is recorded as neuronal ceroid lipofuscinosis[3].
- neuronal ceroid lipofuscinosis 2's subclass of is recorded as juvenile neuronal ceroid lipofuscinosis[4].
- neuronal ceroid lipofuscinosis 2's subclass of is recorded as Jansky–Bielschowsky disease[5].
- neuronal ceroid lipofuscinosis 2's subclass of is recorded as genetic disease[6].
- neuronal ceroid lipofuscinosis 2's OMIM ID is recorded as 204500[7].
- neuronal ceroid lipofuscinosis 2's Disease Ontology ID is recorded as DOID:0110726[8].
- neuronal ceroid lipofuscinosis 2's Orphanet ID is recorded as 228349[9].
- neuronal ceroid lipofuscinosis 2's NCI Thesaurus ID is recorded as C85864[10].
- neuronal ceroid lipofuscinosis 2's genetic association is recorded as TPP1[11].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110726[12].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://identifiers.org/doid/DOID:0110726[13].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_168491[14].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_228349[15].
- neuronal ceroid lipofuscinosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79264[16].
- neuronal ceroid lipofuscinosis 2's UMLS CUI is recorded as C0022340[17].
- neuronal ceroid lipofuscinosis 2's UMLS CUI is recorded as C1876161[18].
- neuronal ceroid lipofuscinosis 2's UMLS CUI is recorded as C5679830[19].
- neuronal ceroid lipofuscinosis 2's ICD-10-CM is recorded as E75.4[20].
- neuronal ceroid lipofuscinosis 2's GARD rare disease ID is recorded as 3045[21].
- neuronal ceroid lipofuscinosis 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- neuronal ceroid lipofuscinosis 2's Mondo ID is recorded as MONDO_0008769[23].
- neuronal ceroid lipofuscinosis 2's UniProt disease ID is recorded as DI-00811[24].