JSON

MERRF syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010790

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. [ NCIT:P378 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84889 (MONDO:equivalentTo)
  • Orphanet:551 (OMIM:545000)
  • GARD:0007144 (Orphanet-shared)
  • DOID:310 (MONDO:equivalentTo)
  • ICD9:277.87 (i2s)
  • OMIM:545000 (Orphanet:551)
  • ICD10:G71.3 (Orphanet:551)
  • UMLS:C0162672 (Orphanet:551)
  • MESH:D017243 (Orphanet:551)
  • MedDRA:10069825 (Orphanet:551)
  • SCTID:68448003 (MONDO:equivalentTo)
  • ICD10:E88.42 (MONDO:equivalentTo)
Subsets

ordo_disease

closeMatch

http://identifiers.org/snomedct/230426003

http://identifiers.org/snomedct/57254004

definition

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.

exactMatch

http://identifiers.org/omim/545000

http://purl.obolibrary.org/obo/NCIT_C84889

http://linkedlifedata.com/resource/umls/id/C0162672

http://purl.obolibrary.org/obo/DOID_310

http://identifiers.org/snomedct/68448003

http://identifiers.org/mesh/D017243

http://identifiers.org/meddra/10069825

http://www.orpha.net/ORDO/Orphanet_551

has exact synonym

myoclonus epilepsy and ragged red fibers

MERRF syndrome

myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)

Fukuhara syndrome

myoclonus with epilepsy and with ragged Red fibers

myoclonus epilepsy associated with ragged-red fibres

myoclonic epilepsy - ragged red fibers

has related synonym

myoclonic epilepsy with ragged red fibers

myoencephalopathy ragged-red fiber disease

MERRF

myoclonic epilepsy associated with ragged-RED fibers

myoclonic epilepsy associated with ragged red fibers

id

MONDO:0010790