Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	EPM2A glucan phosphatase, laforin
Synonyms	LDE LD
ID	http://www.orpha.net/ORDO/Orphanet_121577
alternative_term	LDE LD
hasDbXref	Reactome:O95278 Ensembl:ENSG00000112425 SwissProt:O95278 OMIM:607566 ClinVar:EPM2A Genatlas:EPM2A HGNC:3413
label	EPM2A glucan phosphatase, laforin
prefixIRI	ORDO:Orphanet_121577
prefLabel	EPM2A glucan phosphatase, laforin
symbol	EPM2A
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/607566	OMIM	LOOM