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Details
Link-It Detail - Disease - Leukodystrophy, Globoid Cell
Debug Stats
  • ### Total Build Time: 270 ms 34.583 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 497 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=39 ms Completed: 39 ms rowSize= 16.027 KB
  • CONCEPT_RELATIONSHIPS gt=197 ms Completed: 197 ms rowSize= 13.461 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.881 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leukodystrophy, Globoid Cell C0023521
Definition (1)
A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Sphingolipidoses C0037899
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Demyelinating Diseases C00113034img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Sphingolipidoses C0037899
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sphingolipidoses C0037899
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Sphingolipidoses C0037899
Relationships (58)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 6
diso_​to_​diso : 46
diso_​to_​phen : 2


Relationships:
none : 12
associated_​with : 2
is_​associated_​anatomic_​site_​of : 1
manifestation_​of : 41
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN36img genetic aspects C0017399
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_CHEM19img GALACTOSYLCERAMIDASE C0016957
DISO_to_CHEM19img Galactosylceramidase C0016957
DISO_to_CHEM14img GALACTOSYLCERAMIDASE C0016957
DISO_to_ANAT12img Brain C0006104
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT10img Brain C0006104
DISO_to_CHEM9img Galactoside, Sphingosine C0033954
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_ANAT7img Nerve Fibers, Myelinated C0027750
DISO_to_CHEM7img Galactoside, Sphingosine C0033954
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_CHEMassociated_withimg beta-Galactosidase C0005220
DISO_to_DISOmanifestation_ofimg 'Globoid multinucleated cells' in brain tissue C1968671
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ABNORMAL ELECTROENCEPHALOGRAM C0151611
DISO_to_DISOmanifestation_ofimg Abnormal brainstem auditory evoked potentials (BAEP) C1855598
DISO_to_DISOmanifestation_ofimg Abnormal flash visual evoked potentials (VEP) C1855599
DISO_to_DISOmanifestation_ofimg Adult form onset has after 20 years C1968680
DISO_to_DISOmanifestation_ofimg Blindness C0456909
DISO_to_DISOmanifestation_ofimg Caused by mutations in the glycosylceramidase gene (GALC, 606890.0001) C1968673
DISO_to_DISOmanifestation_ofimg DEMYELINATION C0011304
DISO_to_DISOmanifestation_ofimg DETERIORATION MENTAL (NOS) C0234985
DISO_to_DISOmanifestation_ofimg Deafness C0011053
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGALC2581galactosylceramidase
img OMIM, Score=1000, UMLKSK CUI: C0023521
img OMIM, Score=1000, UMLKSK CUI: C0023521
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023521Leukodystrophy, Globoid Cell0self