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About:
infantile cerebellar-retinal degeneration
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
autosomal recessive disease
neurodegenerative disease
nodeID://b50937782
label
infantile cerebellar-retinal degeneration
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0050883
created_by
lschriml
creation_date
2014-08-06T04:09:42Z
database_cross_reference
GARD:13264
OMIM:614559
has_obo_namespace
disease_ontology
in_subset
DO_FlyBase_slim
http://purl.obolib...g/obo/IAO_0000115
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.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50937786
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