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About:
familial adult myoclonic epilepsy 3
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
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Attributes
Values
type
Class
subClassOf
autosomal dominant disease
familial adult myoclonic epilepsy
nodeID://b50945309
nodeID://b50945310
label
familial adult myoclonic epilepsy 3
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111695
database_cross_reference
OMIM:613608
has_exact_synonym
FAME3
(en)
FCMTE3
(en)
familial cortical myoclonic tremor and epilepsy 3
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50945311
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