Neuronal Ceroid Lipofuscinosis 1
Disease ID: disease_node_15965
Connections displayed (default: 10).
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| Dbxref | GARD:1219, ICD10CM:E75.4, MIM:256730, ORDO:228329 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN1, neuronal ceroid lipofuscinosis 1 variable age of onset |
| Doid Label | neuronal ceroid lipofuscinosis 1 |
| Doid Description | 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. |
| Has Symptom | SYMP_0000124 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15965 |
| Doid Id | DOID_0110721 |
| Label | Neuronal Ceroid Lipofuscinosis 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease)