WormBase Tree Display for DO_term: DOID:0110720
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| DOID:0110720 | Name | neuronal ceroid lipofuscinosis 4 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. | ||||
| Synonym | Exact | CLN4B disease | |||
| autosomal dominant neuronal ceroid lipofuscinosis 4B | |||||
| neuronal ceroid lipofuscinosis 4 Parry type | |||||
| neuronal ceroid lipofuscinosis 4B | |||||
| Parent | Is_a | DOID:14503 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 162350 | |
| Attribute_of | Gene_by_orthology | WBGene00001032 |
