Neuronal Ceroid Lipofuscinosis 5
Disease ID: disease_node_15957
Connections displayed (default: 10).
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| Dbxref | GARD:1223, ICD10CM:E75.4, MIM:256731, ORDO:228360 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN5, neuronal ceroid lipofuscinosis 5 variable age of onset |
| Doid Label | neuronal ceroid lipofuscinosis 5 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15957 |
| Doid Id | DOID_0110728 |
| Label | Neuronal Ceroid Lipofuscinosis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)