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About:
spastic ataxia 4
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
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Attributes
Values
type
Class
subClassOf
autosomal recessive disease
spastic ataxia
nodeID://b50937963
label
spastic ataxia 4
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0050943
created_by
lschriml
creation_date
2015-09-18T14:13:49Z
database_cross_reference
OMIM:613672
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50937964
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