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loading...| Preferred Name |
infantile cerebellar-retinal degeneration |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050883 |
| created_by |
lschriml |
| creation_date |
2014-08-06T04:09:42Z |
| database_cross_reference |
GARD:13264 OMIM:614559 |
| definition |
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 | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050883 |
| in_subset | |
| label |
infantile cerebellar-retinal degeneration |
| notation |
DOID:0050883 |
| prefLabel |
infantile cerebellar-retinal degeneration |
| subClassOf |
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