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Details
Link-It Detail - Disease - Zellweger Syndrome
Debug Stats
  • ### Total Build Time: 263 ms 35.347 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 716 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.820 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 11.905 KB
  • CONCEPT_RELATIONSHIPS gt=246 ms Completed: 246 ms rowSize= 13.732 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 5.435 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Zellweger Syndrome C0043459
Definition (1)
autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (4)
img Kidney Diseases C0022658
img Abnormalities, Multiple C0000772
img Liver Diseases C0023895
img Peroxisomal Disorders C0282528
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208875img Kidney Diseases C0022658
img Male Urogenital Diseases C1720894img Urologic Diseases C00420754img Kidney Diseases C0022658
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Digestive System Diseases C0012242img Liver Diseases C00238953img Liver Diseases C0023895
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Peroxisomal Disorders C0282528
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Peroxisomal Disorders C0282528
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Peroxisomal Disorders C0282528
Relationships (94)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 1
diso_​to_​diso : 85
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 7
is_​associated_​anatomic_​site_​of : 1
isa : 2
manifestation_​of : 81
mapped_​to : 2
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_ANAT11img Peroxisomes C0752063
DISO_to_CHEM9img Membrane Associated Proteins C0025252
DISO_to_PHYS6img Mutation C0026882
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_PHYS5img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_DISOmanifestation_ofimg 'Rocker bottom' feet C0240912
DISO_to_DISOmapped_toimg 3-Ketoacyl-CoA thiolase deficiency C1533628
DISO_to_DISOmanifestation_ofimg AGE BONE RETARDED C0541764
DISO_to_DISOmanifestation_ofimg Abnormal ERG C0476397
DISO_to_DISOmanifestation_ofimg Abnormal helices C1856660
DISO_to_DISOmanifestation_ofimg Absent liver peroxisomes C1859234
DISO_to_DISOmanifestation_ofimg Absent renal peroxisomes C1859233
DISO_to_DISOisaimg Adrenoleukodystrophy C0162309
DISO_to_DISOmanifestation_ofimg Agenesis/hypoplasic corpus collosum C1859230
DISO_to_DISOmanifestation_ofimg Albuminuria C0001925
DISO_to_DISOmanifestation_ofimg Aminoaciduria C0238621
DISO_to_DISOmanifestation_ofimg Anteverted nares C1853244
DISO_to_DISOmanifestation_ofimg BRUSHFIELD SPOT C1303007
DISO_to_DISOmanifestation_ofimg Bell-shaped thorax C1843692
DISO_to_DISOmanifestation_ofimg Breech Presentation C0006157
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanPEX169409peroxisomal biogenesis factor 16
img GENERIF, Score=1000, Pubmed Id: 11890679, UMLKSK CUI: C0043459
HumanPEX55830peroxisomal biogenesis factor 5
img GENERIF, Score=734, Pubmed Id: 17399738, UMLKSK CUI: C0043459
HumanPEX145195peroxisomal biogenesis factor 14
img GENERIF, Score=1000, Pubmed Id: 18285423, UMLKSK CUI: C0043459
HumanPEX15189peroxisomal biogenesis factor 1
img GENERIF, Score=734, Pubmed Id: 16086329, UMLKSK CUI: C0043459
img GENERIF, Score=1000, Pubmed Id: 12840548, UMLKSK CUI: C0043459
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0043459Zellweger Syndrome0self