Neuronal Ceroid Lipofuscinosis 13
Disease ID: disease_node_15958
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.4, MIM:615362, ORDO:352709 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN13, neuronal ceroid lipofuscinosis 13 Kufs type |
| Doid Label | neuronal ceroid lipofuscinosis 13 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15958 |
| Doid Id | DOID_0110727 |
| Label | Neuronal Ceroid Lipofuscinosis 13 |
- 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)