Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Refsum Disease, Infantile
Debug Stats
  • ### Total Build Time: 34 ms 24.160 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 413 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 510 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=4 ms Completed: 4 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 6.737 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 13.025 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.574 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Refsum Disease, Infantile C0282527
Infantile Refsum Disease (disorder)
Definition (1)
An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Peroxisomal Disorders C0282528
Ancestral Roots
RootRoot Plus OneDepthParent
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img 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
Relationships (38)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 3
diso_​to_​diso : 29
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 10
is_​associated_​anatomic_​site_​of : 1
manifestation_​of : 26
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT1img Dental Enamel C0011350
DISO_to_ANAT1img Fibroblasts C0016030
DISO_to_ANAT1img Peroxisomes C0752063
DISO_to_CHEM1img CATALASE C0007367
DISO_to_CHEM1img Docosahexaenoic Acids C0012968
DISO_to_CHEM1img Membrane Associated Proteins C0025252
DISO_to_DISO1img Peroxisomal Disorders C0282528
DISO_to_DISO1img Zellweger Syndrome C0043459
DISO_to_PHEN1img genetic aspects C0017399
DISO_to_PHYS1img Mosaicism C0026578
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmanifestation_ofimg Abnormal ERG C0476397
DISO_to_DISOmanifestation_ofimg Caused by mutation in the peroxisome biogenesis factor-2 gene (PEX2, 170993.0002) C3279403
DISO_to_DISOmanifestation_ofimg DEEP TENDON REFLEX DECREASE C0700078
DISO_to_DISOmanifestation_ofimg Defective bile acid metabolism C3279401
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Di- and trihydroxycholestanoic acid accumulation C3279398
DISO_to_DISOmanifestation_ofimg Dystrophies, Retinal C0854723
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Episodic bleeding C3279402
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Flat face C1853241
DISO_to_DISOmanifestation_ofimg Flat nose C1842876
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Hypocholesterolemia C0151718
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPEX125193peroxisomal biogenesis factor 12
img GENERIF, Score=756, Pubmed Id: 15241794, UMLKSK CUI: C0282527
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0282527Refsum Disease, Infantile0self