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

Echinobase Genes :


OMIM:
MIM:204500 - ceroid lipofuscinosis, neuronal, 2; cln2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): neuronal ceroid lipofuscinosis (is_a)