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 - Ichthyosis, X-Linked
Debug Stats
  • ### Total Build Time: 178 ms 31.330 KB
  • CONCEPT_NAME gt=18 ms Completed: 18 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 217 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=3 ms Completed: 3 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 1.838 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=17 ms Completed: 17 ms rowSize= 10.688 KB
  • CONCEPT_RELATIONSHIPS gt=108 ms Completed: 108 ms rowSize= 14.559 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 2.330 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ichthyosis, X-Linked C0079588
Definition (1)
sex linked inherited disease characterized by excessive scaling
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Steroid Metabolism, Inborn Errors C1257809
img Skin Diseases, Genetic C0037277
img Genetic Diseases, X-Linked C1138434
img Ichthyosis C0020757
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Steroid Metabolism, Inborn Errors C1257809
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Steroid Metabolism, Inborn Errors C1257809
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ichthyosis C0020757
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212904img Ichthyosis C0020757
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Ichthyosis C0020757
Relationships (38)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 30
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 6
alias_​of : 2
associated_​with : 5
inheritance_​type_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
location_​of : 1
manifestation_​of : 18
mapped_​to : 1
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN26img genetic aspects C0017399
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_CHEM11img Steryl-Sulfatase C0052456
DISO_to_PHYS9img Gene Deletion C0017260
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_CHEM6img Steryl-Sulfatase C0052456
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_CHEMassociated_withimg Steryl-Sulfatase C0052456
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg A subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at Xq22.3 C2677728
DISO_to_DISOmanifestation_ofimg Caused by mutation in the steroid sulfatase gene (STS, 300747.0001) C2677723
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOmanifestation_ofimg Congenital ichthyosis C0020758
DISO_to_DISOmanifestation_ofimg Corneal opacities on slit-lamp examination C2677715
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOmanifestation_ofimg Decreased or absent steroid sulfatase activity C2677718
DISO_to_DISOassociated_withimg Dehydrated structure C0011174
DISO_to_DISOassociated_withimg Hyperkeratosis C0870082
DISO_to_DISOrelated_toimg ICHTHYOSIS, X-LINKED, COMPLICATED C2677713
DISO_to_DISOmapped_toimg Ichthyosis and male hypogonadism C1839989
DISO_to_DISOpermuted_term_ofimg Ichthyosis, X-Linked C0079588
DISO_to_DISOmanifestation_ofimg Incidence of 1 in 6,000 males C2677727
DISO_to_DISOmanifestation_ofimg Increased risk of testicular cancer C2677729
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanFLG2312filaggrin
img GENERIF, Score=1000, Pubmed Id: 17657246, UMLKSK CUI: C0079588
HumanSTS412steroid sulfatase (microsomal), isozyme S
img OMIM, Score=1000, UMLKSK CUI: C0079588
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079588Ichthyosis, X-Linked0self