Neuronal Ceroid Lipofuscinosis 8
Disease ID: disease_node_15962
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.4, MIM:600143, ORDO:228354 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN8 |
| Disease Has Feature | DOID_1510 |
| Doid Label | neuronal ceroid lipofuscinosis 8 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. |
| Has Phenotype | HP_0002074 |
| Has Symptom | SYMP_0000321, SYMP_0000124 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15962 |
| Doid Id | DOID_0110723 |
| Label | Neuronal Ceroid Lipofuscinosis 8 |
- Outgoing r'ship
HAS_SYMPTOMto/from Loss Of Vision(ID:disease_node_21716) (Disease) - 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)