progressive myoclonus epilepsy 10 - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	progressive myoclonus epilepsy 10	go back to main search page
Accession:	DOID:0111445	browse the term
Definition:	A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. (DO)
Synonyms:	exact_synonym:	EPM10; early-onset Lafora body disease; progressive myoclonic epilepsy 10
	primary_id:	OMIM:616640
	xref:	ORDO:324290

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Genes (2)

progressive myoclonus epilepsy 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Antxr2

ANTXR cell adhesion molecule 2

ISO

ClinVar Annotator: match by term: Early-onset Lafora body disease

ClinVar

PMID:28492532

NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094

Prdm8

PR/SET domain 8

ISO

ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10

OMIM
ClinVar

PMID:22961547 PMID:25741868 PMID:28492532

NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993

Term paths to the root

Path 1
Term	Annotations
disease	18969
syndrome	10889
electroclinical syndrome	1357
variable age at onset electroclinical syndrome	202
progressive myoclonus epilepsy	197
progressive myoclonus epilepsy 10	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
central nervous system disease	12432
brain disease	11669
movement disease	2584
Dyskinesias	2197
Myoclonus	380
Myoclonic Epilepsies	373
progressive myoclonus epilepsy	197
progressive myoclonus epilepsy 10	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS