Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 2

Term ID
DOID:0110726
Synonyms
  • CLN2
  • neuronal ceroid lipofuscinosis 2 variable age at onset
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. (2)
References
  • GARD:3045
  • ICD10CM:E75.4
  • MIM:204500
  • ORDO:228349
Ontology
Human Disease   ( DOID:0110726 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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