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Details
Link-It Detail - Disease - Leucodystrophy
Debug Stats
  • ### Total Build Time: 243 ms 34.460 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 621 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=199 ms Completed: 199 ms rowSize= 12.925 KB
  • CONCEPT_GENES gt=32 ms Completed: 32 ms rowSize= 19.392 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leucodystrophy C0023520
Definition (1)
A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.
Relationships (40)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 38


Relationships:
classifies : 2
is_​associated_​anatomic_​site_​of : 2
isa : 6
mapped_​to : 26
related_​to : 3
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous system structure C0027763
DISO_to_DISOmapped_toimg ALEXANDER DISEASE C0270726
DISO_to_DISOmapped_toimg Adult onset autosomal dominant leucodystrophy C3164344
DISO_to_DISOmapped_toimg Adult type Krabbe disease C0268252
DISO_to_DISOisaimg Alexander Disease C0270726
DISO_to_DISOmapped_toimg Arylsulfatase A Deficiency C2713319
DISO_to_DISOmapped_toimg Arylsulfatase deficiency without MLD C0268261
DISO_to_DISOrelated_toimg Brain Disorders, Inborn Genetic C1456542
DISO_to_DISOmapped_toimg CLASSIC PELIZAEUS MERZBACHER DIS C0751916
DISO_to_DISOmapped_toimg Canavan Disease C0206307
DISO_to_DISOisaimg Cavitating leukodystrophy C0270725
DISO_to_DISOrelated_toimg Degenerative Nerve Diseases C1456654
DISO_to_DISOuseimg Diffuse Cerebral Sclerosis of Schilder C0007795
DISO_to_DISOmapped_toimg Dystrophies, Neuroaxonal C0338473
DISO_to_DISOmapped_toimg GREENFIELD DIS C0751278
DISO_to_DISOmapped_toimg Globoid cell leukodystrophy C0023521
DISO_to_DISOrelated_toimg Hereditary Diseases C0019247
DISO_to_DISOmapped_toimg Infantile Globoid Cell Leukodystrophy C0751273
DISO_to_DISOmapped_toimg Leucodystrophy C0023520
DISO_to_DISOisaimg Leucodystrophy without a known biochemical basis C0393654
DISO_to_DISOmapped_toimg Leukodystrophy, Globoid Cell C0023521
DISO_to_DISOisaimg Leukodystrophy, Metachromatic C0023522
DISO_to_DISOmapped_toimg Metachromatic Leukodystrophy, Adult-Type (disorder) C0751279
DISO_to_DISOmapped_toimg Metachromatic leucodystrophy without arylsulphatase deficiency C0268260
Genes (20)

Species:
human : 20
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanFAM126A84668family with sequence similarity 126, member A
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanFA2H79152fatty acid 2-hydroxylase
img GENERIF, Score=1000, Pubmed Id: 19068277, UMLKSK CUI: C0023520
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanGJC257165gap junction protein, gamma 2, 47kDa
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanMLC123209megalencephalic leukoencephalopathy with subcortical cysts 1
img GENERIF, Score=861, Pubmed Id: 18330867, UMLKSK CUI: C0023520
HumanSOX106663SRY (sex determining region Y)-box 10
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFS64726NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFS44724NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFV14723NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFS24720NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFS14719NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanNDUFA14694NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanMPV174358MpV17 mitochondrial inner membrane protein
img GENERIF, Score=1000, Pubmed Id: 18329934, UMLKSK CUI: C0023520
HumanLMNB14001lamin B1
img OMIM, Score=1000, UMLKSK CUI: C0023520
img GENERIF, Score=827, Pubmed Id: 19001169, UMLKSK CUI: C0023520
HumanHSPD13329heat shock 60kDa protein 1 (chaperonin)
img OMIM, Score=1000, UMLKSK CUI: C0023520
img GENERIF, Score=1000, Pubmed Id: 18571143, UMLKSK CUI: C0023520
HumanEDNRB1910endothelin receptor type B
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanEDN31908endothelin 3
img OMIM, Score=1000, UMLKSK CUI: C0023520
HumanACOX151acyl-CoA oxidase 1, palmitoyl
img OMIM, Score=1000, UMLKSK CUI: C0023520
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023520Leucodystrophy0self