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Details
Link-It Detail - Disease - Neuroaxonal Dystrophies
Debug Stats
  • ### Total Build Time: 190 ms 16.480 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 857 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=48 ms Completed: 48 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 586 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.516 KB
  • CONCEPT_RELATIONSHIPS gt=92 ms Completed: 92 ms rowSize= 8.797 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 2.518 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neuroaxonal Dystrophies C0338473
Definition (1)
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Brain Diseases C0006111
Children (1)
img Pantothenate Kinase-Associated Neurodegeneration C0018523
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Brain Diseases C0006111
Relationships (19)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 1
diso_​to_​diso : 13
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 7
isa : 3
mapped_​to : 8
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_CHEM10img Phospholipases A2, Calcium-Independent C1744607
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_ANAT7img Brain C0006104
DISO_to_DISO7img Dog Diseases C0012979
DISO_to_ANAT5img Brain C0006104
DISO_to_PHYS5img Mutation C0026882
DISO_to_DISOmapped_toimg ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I C1836544
DISO_to_DISOmapped_toimg BASAL GANGLIA DISEASE, ADULT-ONSET C1853578
DISO_to_DISOpermuted_term_ofimg Dystrophies, Neuroaxonal C0338473
DISO_to_DISOmapped_toimg Hunter Carpenter Macdonald syndrome C2931102
DISO_to_DISOisaimg Infantile Neuroaxonal Dystrophy C0270724
DISO_to_DISOmapped_toimg Infantile osteopetrosis and neuronal storage disease C1838258
DISO_to_DISOmapped_toimg KARAK SYNDROME C2750220
DISO_to_DISOisaimg Late infantile and juvenile neuroaxonal dystrophy C0393652
DISO_to_DISOmapped_toimg Maccario Mena Weir syndrome C2931479
DISO_to_DISOisaimg Neuraxonal leucodystrophy C0393653
DISO_to_DISOmapped_toimg Neurodegeneration Due To Cerebral Folate Transport Deficiency C2751584
DISO_to_DISOmapped_toimg Neurodegeneration with brain iron accumulation (NBIA) C2931845
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPANK280025pantothenate kinase 2
INFERRED, Score=800, UMLKSK CUI: C0338473
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
INFERRED, Score=800, UMLKSK CUI: C0338473
HumanNAGA4668N-acetylgalactosaminidase, alpha-
img OMIM, Score=1000, UMLKSK CUI: C0338473
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0338473Neuroaxonal Dystrophies0self