|
| General Information | |||
|---|---|---|---|
| Term | neuronal ceroid lipofuscinosis 6B | ID (Ontology) | DOID:0110730 (Human Disease) |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. | ||
| Also Known As | "autosomal recessive neuronal ceroid lipofuscinosis 4A" ; "CLN4A" ; "neuronal ceroid lipofuscinosis 4A" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease_____ lipid storage disease | |__neuronal ceroid lipofuscinosis__| neuronal ceroid lipofuscinosis 6B |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease neuronal ceroid lipofuscinosis |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
ICD10CM:E75.4 MIM:204300 ORDO:228340 |
|||