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Details
Link-It Detail - Disease - Epidermolysis Bullosa Simplex
Debug Stats
  • ### Total Build Time: 71 ms 30.149 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 312 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=6 ms Completed: 6 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=15 ms Completed: 15 ms rowSize= 4.158 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 11.266 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 12.147 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Epidermolysis Bullosa Simplex C0079298
Definition (1)
A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Epidermolysis Bullosa C0014527
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Epidermolysis Bullosa C0014527
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Epidermolysis Bullosa C0014527
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Epidermolysis Bullosa C0014527
Relationships (24)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 8
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 9
mapped_​to : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN65img genetic aspects C0017399
DISO_to_PHEN57img genetic aspects C0017399
DISO_to_CHEM43img Keratin C0022564
DISO_to_CHEM27img Keratin-5 C1721008
DISO_to_CHEM23img Keratin-14 C0669391
DISO_to_PHYS19img Mutation C0026882
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_PHYS12img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOisaimg Autosomal dominant epidermolysis bullosa simplex C0268375
DISO_to_DISOpermuted_term_ofimg Bullosa Simplices, Epidermolysis C0079298
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOisaimg Dowling-Meara epidermolysis bullosa C0432315
DISO_to_DISOisaimg EB simplex C0079299
DISO_to_DISOisaimg EBS-MP C0432316
DISO_to_DISOmapped_toimg EBS-OG C0432317
DISO_to_DISOmapped_toimg Epidermolysa bullosa simplex and limb girdle muscular dystrophy C2931072
DISO_to_DISOmapped_toimg Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders C1856969
DISO_to_DISOisaimg Epidermolysis bullosa simplex with hypodontia C0432313
DISO_to_DISOisaimg Epidermolysis bullosa simplex with neuromuscular disease C0432319
DISO_to_DISOisaimg Epidermolysis simplex superficialis C0432318
DISO_to_DISOisaimg Lethal autosomal recessive epidermolysis bullosa simplex C0432320
DISO_to_DISOisaimg Weber-Cockayne Syndrome C0080333
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanVIM7431vimentin
img GENERIF, Score=1000, Pubmed Id: 15556930, UMLKSK CUI: C0079298
HumanKRT143861keratin 14
img GENERIF, Score=1000, Pubmed Id: 17039244, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 12930305, UMLKSK CUI: C0079298
img GENERIF, Score=717, Pubmed Id: 17659012, UMLKSK CUI: C0079298
img GENERIF, Score=717, Pubmed Id: 12655565, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 15654986, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 16786515, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 16098032, UMLKSK CUI: C0079298
HumanKRT53852keratin 5
img GENERIF, Score=1000, Pubmed Id: 15647384, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 17039244, UMLKSK CUI: C0079298
img GAD, Score=1000, Pubmed Id: 12925204, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 17229601, UMLKSK CUI: C0079298
img OMIM, Score=1000, UMLKSK CUI: C0079298
img GENERIF, Score=717, Pubmed Id: 12655565, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 16786515, UMLKSK CUI: C0079298
img GENERIF, Score=1000, Pubmed Id: 16098032, UMLKSK CUI: C0079298
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079298Epidermolysis Bullosa Simplex0self