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Metadata
ID DOID:0110726
Name neuronal ceroid lipofuscinosis 2
Definition A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/18684116
Xrefs

GARD:3045

ICD10CM:E75.4

OMIM:204500

ORDO:228349

Subsets

DO_rare_slim

Synonyms

CLN2 [EXACT]

neuronal ceroid lipofuscinosis 2 variable age at onset [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

is_a autosomal recessive disease

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