(Q55784931)

English

progressive myoclonic epilepsy type 9

human disease

EPM9
EPILEPSY, PROGRESSIVE MYOCLONIC, 9
Progressive myoclonus epilepsy type 9
Epilepsy, Progressive Myoclonic, type 9
PME type 9
EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9
Progressive myoclonic epilepsy due to LMNB2 deficiency

In more languages

Statements

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class of disease

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genetic association

1 reference

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

http://www.orpha.net/ORDO/Orphanet_457265

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Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

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Sitelinks

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