| Metadata | |
|---|---|
| ID | DOID:0110731 |
| Name | neuronal ceroid lipofuscinosis 3 |
| Definition | 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. https://ghr.nlm.nih.gov/condition/cln3-disease, https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/7553855 |
| Xrefs | |
| Alternateids |
DOID:0050756 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
Batten disease [EXACT] CLN3 [EXACT] juvenile neuronal ceroid lipofuscinosis [EXACT] |
| Parent Relationships |