Neuronal Ceroid Lipofuscinosis 4
Disease ID: disease_node_15951
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:E75.4, MIM:162350, ORDO:228343 |
|---|---|
| Subclassof | DOID_0050736, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN4B disease, autosomal dominant neuronal ceroid lipofuscinosis 4B, neuronal ceroid lipofuscinosis 4 Parry type, neuronal ceroid lipofuscinosis 4B |
| Disease Has Feature | DOID_0080831, DOID_0050753 |
| Doid Label | neuronal ceroid lipofuscinosis 4 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by autosomal domit inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13. |
| Has Symptom | SYMP_0000124 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15951 |
| Doid Id | DOID_0110720 |
| Label | Neuronal Ceroid Lipofuscinosis 4 |
- Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)