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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	familial adult myoclonic epilepsy 2
annotatedTarget	A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/22491192 url:https://www.ncbi.nlm.nih.gov/pubmed/24114805 url:https://www.ncbi.nlm.nih.gov/pubmed/31664034
is topic of	Human Disease Ontology

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