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 - Fucosidosis
Debug Stats
  • ### Total Build Time: 43 ms 24.482 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 379 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 394 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=5 ms Completed: 5 ms rowSize= 1.010 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 6.832 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 13.178 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.344 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Fucosidosis C0016788
Fucosidase Deficiency Disease
Definition (1)
lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Carbohydrate Metabolism, Inborn Errors C0007001
img Lysosomal Storage Diseases, Nervous System C0751738
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Lysosomal Storage Diseases, Nervous System C0751738
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Lysosomal Storage Diseases, Nervous System C0751738
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Lysosomal Storage Diseases, Nervous System C0751738
Relationships (56)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 52
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 2
isa : 3
manifestation_​of : 47
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT3img Brain C0006104
DISO_to_CHEM3img Fucosidase C0016787
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_CHEMassociated_withimg Fucosidase C0016787
DISO_to_DISOisaimg 1, Fucosidosis Type C0268221
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Absent/hypoplastic coccyx C1856644
DISO_to_DISOmanifestation_ofimg Absent/hypoplastic paranasal sinuses C1856639
DISO_to_DISOisaimg Adult fucosidosis C1305233
DISO_to_DISOmanifestation_ofimg Angiokeratoma C0002985
DISO_to_DISOmanifestation_ofimg Anhidrosis C0003028
DISO_to_DISOmanifestation_ofimg Anterior beaking of thoracic and lumbar vertebrae C1856642
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Broad chest C1839248
DISO_to_DISOmanifestation_ofimg Broad nose C1853571
DISO_to_DISOmanifestation_ofimg Cardiomegaly C0018800
DISO_to_DISOmanifestation_ofimg Caused by mutations in the alpha-L-fucosidase gene (FUCA1, 230000.0001) C1856649
DISO_to_DISOmanifestation_ofimg Cervical platyspondyly C1856641
DISO_to_DISOisaimg Childhood fucosidosis C0268222
DISO_to_DISOmanifestation_ofimg Coarse facial features C1854600
DISO_to_DISOmanifestation_ofimg Contracture of joint C0009918
DISO_to_DISOmanifestation_ofimg Coxa valga C0239137
DISO_to_DISOmanifestation_ofimg Elevated sweat chloride C1856646
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFUCA12517fucosidase, alpha-L- 1, tissue
img OMIM, Score=1000, UMLKSK CUI: C0016788
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016788Fucosidosis0self