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Details
Link-It Detail - Disease - Metabolic Myopathy
Debug Stats
  • ### Total Build Time: 28 ms 9.316 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 346 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=23 ms Completed: 23 ms rowSize= 5.800 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.630 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Metabolic Myopathy C0270984
Definition (1)
A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.
Relationships (13)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 11


Relationships:
is_​normal_​tissue_​origin_​of_​disease : 2
isa : 11
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg soft tissue C0225317
DISO_to_DISOisaimg Amyloid myopathy C0342618
DISO_to_DISOisaimg Chronic myopathy with hypocalcaemia and hypophosphataemia C0475815
DISO_to_DISOisaimg Endocrine myopathy C0494507
DISO_to_DISOisaimg Familial Periodic Paralysis C0030443
DISO_to_DISOisaimg Glycogen storage disease, muscular form C0268148
DISO_to_DISOisaimg Herztod C0270589
DISO_to_DISOisaimg Hypermetabolic myopathy C0270981
DISO_to_DISOisaimg LIPID STORAGE MYOPATHY C0410214
DISO_to_DISOisaimg Mitochondrial Myopathies C0162670
DISO_to_DISOisaimg Muscle AMP deaminase deficiency C0268123
DISO_to_DISOisaimg Nutritional myopathy C0270955
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPHKA15255phosphorylase kinase, alpha 1 (muscle)
img GENERIF, Score=901, Pubmed Id: 18401027, UMLKSK CUI: C0270984
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0270984Metabolic Myopathy0self