WormBase Tree Display for DO_term: DOID:0110721
expand all nodes | collapse all nodes | view schema
| DOID:0110721 | Name | neuronal ceroid lipofuscinosis 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. | ||||
| Synonym | Exact | CLN1 | |||
| neuronal ceroid lipofuscinosis 1 variable age of onset | |||||
| Parent | Is_a | DOID:14503 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 256730 | |
| Attribute_of | Gene_by_orthology | WBGene00004092 |
