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Details
Link-It Detail - Disease - Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 111 ms 44.788 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 405 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 264 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 996 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 7.113 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.841 KB
  • CONCEPT_RELATIONSHIPS gt=77 ms Completed: 77 ms rowSize= 13.586 KB
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 18.252 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Metabolism, Inborn Errors C0025521
Inborn Errors of Metabolism
Definition (1)
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, Inborn C0950123
img Metabolic Diseases C0025517
Children (16)
img Amyloidosis, Familial C0740340
img Renal Tubular Transport, Inborn Errors C0035091
img Progeria C0033300
img Brain Diseases, Metabolic, Inborn C0752109
img Steroid Metabolism, Inborn Errors C1257809
img Amino Acid Metabolism, Inborn Errors C0002514
img Amino Acid Transport Disorders, Inborn C0751746
img Cytochrome-c Oxidase Deficiency C0268237
img Metal Metabolism, Inborn Errors C0025534
img Carbohydrate Metabolism, Inborn Errors C0007001
img Lysosomal Storage Diseases C0085078
img Peroxisomal Disorders C0282528
img Lipid Metabolism, Inborn Errors C0023772
img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
img Hyperbilirubinemia, Hereditary C0020435
img Porphyrias C0032708
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255173img Metabolic Diseases C0025517
Relationships (193)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 39
diso_​to_​diso : 141
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 67
isa : 97
mapped_​to : 21
may_​treat : 7
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN238img genetic aspects C0017399
DISO_to_PHEN232img genetic aspects C0017399
DISO_to_DISO130img Complication Aspects C1171258
DISO_to_DISO109img Complication Aspects C1171258
DISO_to_ANAT61img In Blood C0005768
DISO_to_PHYS36img Mutation C0026882
DISO_to_ANAT35img In Blood C0005768
DISO_to_PHYS31img Mutation C0026882
DISO_to_CHEM26img Methylmalonic Acid C0025787
DISO_to_CHEM23img Glutarates C0017816
DISO_to_CHEM22img Carnitine C0007258
DISO_to_CHEM21img Methylmalonic Acid C0025787
DISO_to_CHEM19img Acyl-CoA Dehydrogenase C0050688
DISO_to_CHEM13img Urea C0041942
DISO_to_CHEM13img Vitamin B 12 C0042845
DISO_to_DISO13img HYPERAMMONAEMIA C0220994
DISO_to_DISO13img Liver Diseases C0023895
DISO_to_CHEM12img Carnitine C0007258
DISO_to_DISO12img Liver Diseases C0023895
DISO_to_DISO12img Nervous System Diseases C0027765
DISO_to_DISO12img Pregnancy Complications C0032962
DISO_to_ANAT11img Hepatocyte C0227525
DISO_to_CHEM11img Urea C0041942
DISO_to_DISO11img Mitochondrial Diseases C0751651
DISO_to_DISO11img Muscular Diseases C0026848
Genes (406)

Species:
human : 406
Page Size
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanNAGS162417N-acetylglutamate synthase
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanHFE2148738hemochromatosis type 2 (juvenile)
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanCDAN1146059codanin 1
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanCPT1C126129carnitine palmitoyltransferase 1C
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanEXOSC6118460exosome component 6
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanAPOA5116519apolipoprotein A-V
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanGFM284340G elongation factor, mitochondrial 2
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanDTNBP184062dystrobrevin binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0025521
HumanACSBG281616acyl-CoA synthetase bubblegum family member 2
INFERRED, Score=800, UMLKSK CUI: C0025521
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0025521Metabolism, Inborn Errors0self