Infantile Cerebellar-Retinal Degeneration
Disease ID: disease_node_16142
Connections displayed (default: 10).
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| Dbxref | GARD:13264, MIM:614559 |
|---|---|
| Subclassof | DOID_1289, DOID_0050737 |
| Data Source | DOID |
| Doid Label | infantile cerebellar-retinal degeneration |
| Doid Description | A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16142 |
| Doid Id | DOID_0050883 |
| Label | Infantile Cerebellar-Retinal Degeneration |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)