Terminology Service for NFDI4Health

neuronal ceroid lipofuscinosis 3

Go to external page http://purl.obolibrary.org/obo/DOID_0110731


A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

neuronal ceroid lipofuscinosis 3

Synonyms
  • Batten disease
  • CLN3
  • juvenile neuronal ceroid lipofuscinosis
database cross reference
Subsets

DO_FlyBase_slim

has alternative id

DOID:0050756

has obo namespace

disease_ontology

id

DOID:0110731