Neuronal Ceroid Lipofuscinosis 2
Disease ID: disease_node_15959
Connections displayed (default: 10).
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| Dbxref | GARD:3045, ICD10CM:E75.4, MIM:204500, ORDO:228349 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN2, neuronal ceroid lipofuscinosis 2 variable age at onset |
| Doid Label | neuronal ceroid lipofuscinosis 2 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15959 |
| Doid Id | DOID_0110726 |
| Label | Neuronal Ceroid Lipofuscinosis 2 |
- 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)