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Summary Literature (0)
DOID:0110726 - neuronal ceroid lipofuscinosis 2

Disease Ontology 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.

Synonyms: neuronal ceroid lipofuscinosis 2 variable age at onset, CLN2

Xenbase Genes : tpp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008769 - neuronal ceroid lipofuscinosis 2

MIM:
MIM:204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), genetic disease (is_a), neuronal ceroid lipofuscinosis (is_a)