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Details
Link-It Detail - Disease - Lipid Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 163 ms 42.565 KB
  • CONCEPT_NAME gt=8 ms Completed: 7 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 248 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 1,005 bytes
  • CONCEPT_CHILDREN gt=20 ms Completed: 20 ms rowSize= 5.323 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 4.141 KB
  • CONCEPT_RELATIONSHIPS gt=79 ms Completed: 79 ms rowSize= 12.584 KB
  • CONCEPT_GENES gt=44 ms Completed: 44 ms rowSize= 17.566 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lipid Metabolism, Inborn Errors C0023772
Definition (1)
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Metabolism, Inborn Errors C0025521
img Lipid Metabolism Disorders C0154251
Children (12)
img Lipidoses C0023794
img Hyperlipoproteinemia Type III C0020479
img Hyperlipidemia, Familial Combined C0020474
img Lipodystrophy, Congenital Generalized C0221032
img Hypolipoproteinemias C0020623
img Smith-Lemli-Opitz Syndrome C0175694
img Hyperlipoproteinemia Type II C0020445
img Hyperlipoproteinemia Type IV C0020480
img Hyperlipoproteinemia Type I C0023817
img Xanthomatosis, Cerebrotendinous C0238052
img Barth Syndrome C0574083
img Hyperlipoproteinemia Type V C0020481
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Lipid Metabolism Disorders C0154251
Relationships (33)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 8
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 21
entry_​version_​of : 1
mapped_​to : 11
Page Size
Current 25
  Page 1 of 2
Prior Page
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN105img genetic aspects C0017399
DISO_to_PHEN57img genetic aspects C0017399
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_DISO31img Complication Aspects C1171258
DISO_to_CHEM26img Fatty Acids C0015684
DISO_to_CHEM24img Acyl-CoA Dehydrogenase C0050688
DISO_to_ANAT23img In Blood C0005768
DISO_to_DISO22img Mitochondrial Diseases C0751651
DISO_to_CHEM21img Fatty Acids C0015684
DISO_to_DISO19img Muscular Diseases C0026848
DISO_to_ANAT16img Mitochondria C0026237
DISO_to_CHEM16img (S)-3-Hydroxyacyl-CoA:NAD+ oxidoreductase C0000404
DISO_to_CHEM16img 3-Hydroxyacyl CoA Dehydrogenases C0000404
DISO_to_CHEM15img Acyl-CoA Dehydrogenase, Long-Chain C0065170
DISO_to_PHYS14img Mutation C0026882
DISO_to_DISO13img Ichthyosiform Erythroderma, Congenital C0079583
DISO_to_PHYS13img Energy Metabolism C0014272
DISO_to_ANAT12img In Blood C0005768
DISO_to_CHEM12img Acyl-CoA Dehydrogenase, Long-Chain C0065170
DISO_to_ANAT11img Mitochondria C0026237
DISO_to_CHEM11img Carnitine C0007258
DISO_to_DISOmapped_toimg 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY C1845517
DISO_to_DISOmapped_toimg ACADVLD C0342784
DISO_to_DISOmapped_toimg ACAT2 DEFICIENCY C0342735
DISO_to_DISOmapped_toimg Carnitine palmitoyl transferase 1A deficiency C1829703
Genes (95)

Species:
human : 95
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanCPT1C126129carnitine palmitoyltransferase 1C
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanAPOA5116519apolipoprotein A-V
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanASAM79827
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanLMF164788lipase maturation factor 1
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanPNPLA257104patatin-like phospholipase domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanCLN654982ceroid-lipofuscinosis, neuronal 6, late infantile, variant
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanTXNIP10628thioredoxin interacting protein
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanNPC210577Niemann-Pick disease, type C2
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanNR1H49971nuclear receptor subfamily 1, group H, member 4
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanADIPOQ9370adiponectin, C1Q and collagen domain containing
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanRAB9A9367RAB9A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanLZTR18216leucine-zipper-like transcription regulator 1
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanRAB7A7879RAB7A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanVIM7431vimentin
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanUSF17391upstream transcription factor 1
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanUGCG7357UDP-glucose ceramide glucosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0023772
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0023772
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023772Lipid Metabolism, Inborn Errors0self