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Details
Link-It Detail - Disease - Lipidoses
Debug Stats
  • ### Total Build Time: 329 ms 40.557 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 316 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 415 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= 1,011 bytes
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 1.852 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.152 KB
  • CONCEPT_RELATIONSHIPS gt=280 ms Completed: 280 ms rowSize= 13.384 KB
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 18.113 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lipidoses C0023794
Definition (1)
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Lipid Metabolism Disorders C0154251
img Lipid Metabolism, Inborn Errors C0023772
Children (4)
img Cholesterol Ester Storage Disease C0008384
img Neuronal Ceroid-Lipofuscinoses C0027877
img Sjogren-Larsson Syndrome C0037231
img Sphingolipidoses C0037899
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Lipid Metabolism Disorders C0154251
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lipid Metabolism, Inborn Errors C0023772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipid Metabolism, Inborn Errors C0023772
Relationships (81)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 5
diso_​to_​diso : 72
diso_​to_​phen : 2


Relationships:
none : 14
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
isa : 8
mapped_​to : 55
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO34img chemically induced C0007994
DISO_to_CHEM29img Phospholipids C0031676
DISO_to_DISO18img chemically induced C0007994
DISO_to_CHEM13img Phospholipids C0031676
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM11img Pharmaceutical Preparations C0013227
DISO_to_ANAT8img In Blood C0005768
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISO7img Liver Diseases C0023895
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_ANAT5img Liver C0023884
DISO_to_CHEM5img Fluorescent Dyes C0016320
DISO_to_DISO5img BOVINE DIS C0007453
DISO_to_DISO5img Liver Diseases C0023895
DISO_to_CHEMassociated_withimg Lipids C0023779
DISO_to_DISOmapped_toimg 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency C0342826
DISO_to_DISOmapped_toimg Arylsulfatase A Deficiency C2713319
DISO_to_DISOmapped_toimg Arylsulfatase C deficiency C0553715
DISO_to_DISOmapped_toimg Beta-sitosterolaemia C0268202
DISO_to_DISOisaimg Cerebral lipidoses C0007788
DISO_to_DISOmapped_toimg Chemically induced lipidosis C0268219
DISO_to_DISOmapped_toimg Cholesterol Ester Storage Disease C0008384
DISO_to_DISOmapped_toimg Deficiencies, N-Acetylglucosamine-6-Sulfatase C0086650
DISO_to_DISOmapped_toimg Disease, Sea-Blue Histiocyte C0036489
DISO_to_DISOmapped_toimg Disorder of cholesterol synthesis C0342829
Genes (43)

Species:
human : 43
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanPNPLA257104patatin-like phospholipase domain containing 2
img GENERIF, Score=966, Pubmed Id: 17631826, UMLKSK CUI: C0023794
HumanCLN654982ceroid-lipofuscinosis, neuronal 6, late infantile, variant
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanNPC210577Niemann-Pick disease, type C2
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanRAB9A9367RAB9A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanRAB7A7879RAB7A, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanVIM7431vimentin
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanUGCG7357UDP-glucose ceramide glucosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanTLR47099toll-like receptor 4
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanSREBF26721sterol regulatory element binding transcription factor 2
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanSOD26648superoxide dismutase 2, mitochondrial
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanSLC6A46532solute carrier family 6 (neurotransmitter transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanCCL186362chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanRAB4A5867RAB4A, member RAS oncogene family
img GENERIF, Score=717, Pubmed Id: 15292453, UMLKSK CUI: C0023794
HumanPSAP5660prosaposin
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanPPT15538palmitoyl-protein thioesterase 1
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanNPC14864Niemann-Pick disease, type C1
INFERRED, Score=800, UMLKSK CUI: C0023794
HumanNAGA4668N-acetylgalactosaminidase, alpha-
INFERRED, Score=800, UMLKSK CUI: C0023794
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023794Lipidoses0self