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Details
Link-It Detail - Disease - Neuronal Ceroid-Lipofuscinoses
Debug Stats
  • ### Total Build Time: 129 ms 32.328 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 511 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=9 ms Completed: 9 ms rowSize= 1,007 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=24 ms Completed: 24 ms rowSize= 6.742 KB
  • CONCEPT_RELATIONSHIPS gt=60 ms Completed: 60 ms rowSize= 13.057 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 9.314 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neuronal Ceroid-Lipofuscinoses C0027877
Definition (1)
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Lipidoses C0023794
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Lipidoses C0023794
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Lipidoses C0023794
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipidoses C0023794
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (33)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 13
diso_​to_​diso : 14
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 21
associated_​with : 1
isa : 3
mapped_​to : 5
permuted_​term_​of : 1
use : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN133img genetic aspects C0017399
DISO_to_PHEN129img genetic aspects C0017399
DISO_to_CHEM43img Membrane Associated Proteins C0025252
DISO_to_CHEM38img CHAPERONE MOL C0243041
DISO_to_CHEM37img Cell Surface Glycoprotein C0025248
DISO_to_CHEM36img Membrane Associated Proteins C0025252
DISO_to_CHEM28img Cell Surface Glycoprotein C0025248
DISO_to_CHEM25img CHAPERONE MOL C0243041
DISO_to_ANAT20img Brain C0006104
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_PHYS20img Mutation C0026882
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_PHYS17img Mutation C0026882
DISO_to_DISO15img Animal Disease Models C0012644
DISO_to_CHEM14img Thiolester Hydrolases C0039912
DISO_to_ANAT12img Neurons C0027882
DISO_to_CHEM12img Aminopeptidase C0002570
DISO_to_CHEM12img Dipeptidyl Peptidases and Tripeptidyl Peptidases C2717827
DISO_to_CHEM12img Endopeptidases C0030946
DISO_to_CHEM12img Serine Proteases C2717971
DISO_to_CHEM12img Thiolester Hydrolases C0039912
DISO_to_CHEMassociated_withimg Cerolipoid C0311450
DISO_to_DISOisaimg Adult Neuronal Ceroid Lipofuscinosis C0022797
DISO_to_DISOuseimg Amaurotic Familial Idiocy C0282220
DISO_to_DISOmapped_toimg CEROID LIPOFUSCINOSIS, NEURONAL, 5 C1850442
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
img GENERIF, Score=1000, Pubmed Id: 15349861, UMLKSK CUI: C0027877
HumanCLN654982ceroid-lipofuscinosis, neuronal 6, late infantile, variant
img GENERIF, Score=1000, Pubmed Id: 11791207, UMLKSK CUI: C0027877
HumanSOD26648superoxide dismutase 2, mitochondrial
img GENERIF, Score=1000, Pubmed Id: 12946273, UMLKSK CUI: C0027877
HumanPPT15538palmitoyl-protein thioesterase 1
img GENERIF, Score=1000, Pubmed Id: 12025857, UMLKSK CUI: C0027877
HumanCLN51203ceroid-lipofuscinosis, neuronal 5
img GENERIF, Score=717, Pubmed Id: 12134079, UMLKSK CUI: C0027877
HumanCLN31201ceroid-lipofuscinosis, neuronal 3
img GENERIF, Score=717, Pubmed Id: 12134079, UMLKSK CUI: C0027877
HumanTPP11200tripeptidyl peptidase I
img GENERIF, Score=1000, Pubmed Id: 12698559, UMLKSK CUI: C0027877
img GENERIF, Score=923, Pubmed Id: 12950156, UMLKSK CUI: C0027877
img GENERIF, Score=717, Pubmed Id: 12134079, UMLKSK CUI: C0027877
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027877Neuronal Ceroid-Lipofuscinoses0self