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 - Ehlers-Danlos Syndrome
Debug Stats
  • ### Total Build Time: 14 ms 28.948 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 941 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=0 Completed: 0 ms rowSize= 1.824 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.284 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 13.787 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 1.367 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ehlers-Danlos Syndrome C0013720
Definition (1)

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels and other organs.

EDS usually affects your skin, joints and blood vessel walls. Symptoms include

  • Loose joints
  • Fragile, small blood vessels
  • Abnormal scar formation and wound healing
  • Soft, velvety, stretchy skin that bruises easily

There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms. It also includes learning how to protect your joints and prevent injuries.

Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (4)
img Skin Abnormalities C0037268
img Skin Diseases, Genetic C0037277
img Hemostatic Disorders C0600502
img Collagen Diseases C0009326
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
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 Cardiovascular Diseases C0007222img Vascular Diseases C00423734img Hemostatic Disorders C0600502
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Hemostatic Disorders C0600502
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097824img Collagen Diseases C0009326
Relationships (87)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 9
diso_​to_​diso : 67
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 34
classifies : 2
gene_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 2
isa : 2
mapped_​to : 43
related_​to : 2
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO157img Complication Aspects C1171258
DISO_to_DISO113img Complication Aspects C1171258
DISO_to_PHEN112img genetic aspects C0017399
DISO_to_PHEN91img genetic aspects C0017399
DISO_to_DISO22img Joint Instability C0022410
DISO_to_CHEM16img Collagen C0009325
DISO_to_CHEM16img Collagen Type III C0009332
DISO_to_DISO13img ANEURYSM, DISSECTING C0002949
DISO_to_DISO13img Joint Instability C0022410
DISO_to_PHYS13img Mutation C0026882
DISO_to_ANAT12img Skin C1123023
DISO_to_CHEM12img Tenascin C0076088
DISO_to_CHEM10img Collagen Type V C0009335
DISO_to_CHEM9img Tenascin C0076088
DISO_to_DISO9img Angiopathy C0042373
DISO_to_DISO9img Pregnancy Complications C0032962
DISO_to_DISO9img Vascular Diseases C0042373
DISO_to_PHYS9img Mutation C0026882
DISO_to_DISO8img Aneurysm C0002940
DISO_to_DISO8img Marfan Syndrome C0024796
DISO_to_CHEM7img Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase C0024341
DISO_to_DISO7img ANEURYSM, DISSECTING C0002949
DISO_to_DISO7img Scoliosis C0036439
DISO_to_ANAT6img Fibroblasts C0016030
DISO_to_ANAT6img Skin C1123023
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanB4GALT711285xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
img OMIM, Score=882, UMLKSK CUI: C0013720
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013720Ehlers-Danlos Syndrome0self