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Details
Link-It Detail - Disease - Deficiency of malonyl-CoA decarboxylase
Debug Stats
  • ### Total Build Time: 50 ms 11.587 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 376 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=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=31 ms Completed: 31 ms rowSize= 8.450 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 1.526 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.173 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Deficiency of malonyl-CoA decarboxylase C0342793
Relationships (21)

Relation Types:
diso_​to_​diso : 21


Relationships:
manifestation_​of : 21
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Abdominal Pain C0000737
DISO_to_DISOmanifestation_ofimg Abnormal urinary compounds C1855449
DISO_to_DISOmanifestation_ofimg Cardiomyopathy, Hypertrophic C0007194
DISO_to_DISOmanifestation_ofimg Caused by mutation in the malonyl-CoA decarboxylase gene (MLYCD, 606761.0001) C3151486
DISO_to_DISOmanifestation_ofimg Chronic constipation C0401149
DISO_to_DISOmanifestation_ofimg Developmental delay in early childhood C1855448
DISO_to_DISOmanifestation_ofimg Diarrhea C0011991
DISO_to_DISOmanifestation_ofimg Frontotemporal atrophy C3150328
DISO_to_DISOmanifestation_ofimg Hypoglycemia C0020615
DISO_to_DISOmanifestation_ofimg Ketosis C0022638
DISO_to_DISOmanifestation_ofimg Lactic acidaemia C0347959
DISO_to_DISOmanifestation_ofimg Metabolic acidosis ICD10CM:E87.2 C3276544
DISO_to_DISOmanifestation_ofimg Mitochondrial malonyl-CoA decarboxylase activity in fibroblasts is very low (as low as 4%) C1855450
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Nodular heterotopia (less common) C3151485
DISO_to_DISOmanifestation_ofimg Pachygyria (less common) C3151484
DISO_to_DISOmanifestation_ofimg Seizures C0036572
DISO_to_DISOmanifestation_ofimg Short stature C0349588
DISO_to_DISOmanifestation_ofimg Symptoms may be precipitated by infection C1855452
DISO_to_DISOmanifestation_ofimg Vomiting C0042963
DISO_to_DISOmanifestation_ofimg White matter changes on brain imaging (less common) C3151483
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanMLYCD23417malonyl-CoA decarboxylase
img GENERIF, Score=1000, Pubmed Id: 12955715, UMLKSK CUI: C0342793
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342793Deficiency of malonyl-CoA decarboxylase0self