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Details
Link-It Detail - Disease - MERRF Syndrome
Debug Stats
  • ### Total Build Time: 131 ms 22.337 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 621 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=18 ms Completed: 18 ms rowSize= 1.438 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=71 ms Completed: 71 ms rowSize= 11.941 KB
  • CONCEPT_RELATIONSHIPS gt=24 ms Completed: 24 ms rowSize= 3.851 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.815 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
MERRF Syndrome C0162672
Definition (1)
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Mitochondrial Encephalomyopathies C0162666
img Myoclonic Epilepsies, Progressive C0751778
img Brain Diseases, Metabolic, Inborn C0752109
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Mitochondrial Encephalomyopathies C0162666
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Mitochondrial Encephalomyopathies C0162666
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268485img Mitochondrial Encephalomyopathies C0162666
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Mitochondrial Encephalomyopathies C0162666
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Mitochondrial Encephalomyopathies C0162666
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Myoclonic Epilepsies, Progressive C0751778
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
Relationships (7)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 3
diso_​to_​phen : 2


Relationships:
none : 5
alias_​of : 1
isa : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_CHEM15img DNA, Mitochondrial C0012929
DISO_to_DISO15img MELAS Syndrome C0162671
DISO_to_CHEM14img DNA, Mitochondrial C0012929
DISO_to_DISOisaimg Disorder, Myoclonic Seizure C0014550
DISO_to_DISOalias_ofimg MERRF Syndrome C0162672
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPRKCD5580protein kinase C, delta
img GENERIF, Score=1000, Pubmed Id: 16785027, UMLKSK CUI: C0162672
HumanPOLG5428polymerase (DNA directed), gamma
img GENERIF, Score=1000, Pubmed Id: 14694057, UMLKSK CUI: C0162672
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162672MERRF Syndrome0self