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Details
Link-It Detail - Disease - Ethylmalonic encephalopathy
Debug Stats
  • ### Total Build Time: 36 ms 15.423 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 12.194 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.653 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ethylmalonic encephalopathy C1865349
Relationships (27)

Relation Types:
diso_​to_​diso : 27


Relationships:
expanded_​form_​of : 1
manifestation_​of : 26
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ETHE1 gene (ETHE1, 608451.0001) C1865358
DISO_to_DISOmanifestation_ofimg Chronic diarrhea C0401151
DISO_to_DISOmanifestation_ofimg Cytochrome c oxidase deficiency in skeletal muscle and brain C3148692
DISO_to_DISOmanifestation_ofimg Death usually occurs in first decade of life C3148696
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Developmental regression C1836830
DISO_to_DISOmanifestation_ofimg Ethylmalonic aciduria C1865353
DISO_to_DISOexpanded_form_ofimg Ethylmalonic encephalopathy C1865349
DISO_to_DISOmanifestation_ofimg Extrapyramidal sign C0234133
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Hyperintense lesions in the basal ganglia on MRI C1865351
DISO_to_DISOmanifestation_ofimg Increased serum C4 and C5 acylcarnitine esters C1865356
DISO_to_DISOmanifestation_ofimg Increased urinary 2-methylbutyryl glycine C3148694
DISO_to_DISOmanifestation_ofimg Increased urinary isobutyryl glycine C3148693
DISO_to_DISOmanifestation_ofimg Increased urinary thiosulphate C3148695
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Lactic acidaemia C0347959
DISO_to_DISOmanifestation_ofimg Methylsuccinic aciduria C1865354
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Onset in first months of life C1836045
DISO_to_DISOmanifestation_ofimg Orthostatic acrocyanosis C1865357
DISO_to_DISOmanifestation_ofimg Patients are often of Mediterranean origin C1865359
DISO_to_DISOmanifestation_ofimg Petechiae C0031256
DISO_to_DISOmanifestation_ofimg Pyramidal symptoms C1865350
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanETHE123474ethylmalonic encephalopathy 1
img GENERIF, Score=694, Pubmed Id: 16183799, UMLKSK CUI: C1865349
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1865349Ethylmalonic encephalopathy0self