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Details
Link-It Detail - Disease - Epidermolysis Bullosa
Debug Stats
  • ### Total Build Time: 69 ms 41.387 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 370 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=5 ms Completed: 5 ms rowSize= 1.409 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.874 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 6.729 KB
  • CONCEPT_RELATIONSHIPS gt=41 ms Completed: 41 ms rowSize= 14.323 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 14.935 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Epidermolysis Bullosa C0014527
Definition (1)
Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (3)
img Skin Abnormalities C0037268
img Skin Diseases, Vesiculobullous C0037275
img Skin Diseases, Genetic C0037277
Children (4)
img Epidermolysis Bullosa Simplex C0079298
img Epidermolysis Bullosa Acquisita C0079293
img Epidermolysis Bullosa Dystrophica C0079294
img Epidermolysis Bullosa, Junctional C0079301
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, Vesiculobullous C0037275
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
Relationships (56)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 20
diso_​to_​diso : 26
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 20
associated_​with : 4
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 6
location_​of : 1
mapped_​to : 2
may_​treat : 16
use : 3
used_​for : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN100img genetic aspects C0017399
DISO_to_DISO77img Complication Aspects C1171258
DISO_to_PHEN51img genetic aspects C0017399
DISO_to_DISO40img Complication Aspects C1171258
DISO_to_DISO14img Blister C0005758
DISO_to_ANAT11img Skin C1123023
DISO_to_DISO11img Disorder, Photosensitivity C0031762
DISO_to_DISO10img Cutaneous tumor C0037286
DISO_to_DISO10img Periodontal Diseases C0031090
DISO_to_DISO9img Cutaneous tumor C0037286
DISO_to_PHYS9img Mutation C0026882
DISO_to_ANAT8img Pylorus C0034196
DISO_to_ANAT7img Pylorus C0034196
DISO_to_CHEM7img Membrane Associated Proteins C0025252
DISO_to_DISO7img Carcinoma, Squamous Cell C0007137
DISO_to_CHEM6img Antigens, Autologous C0004359
DISO_to_CHEM6img Collagens, Non-Fibrillar C0969670
DISO_to_CHEM6img NEOPL PROTEINS C0027642
DISO_to_DISO6img Carcinoma, Squamous Cell C0007137
DISO_to_PHYS6img Mosaicism C0026578
DISO_to_ANATlocation_ofimg Epidermis C0014520
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_CHEMmay_treatimg 2 ML Phenytoin sodium 50 MG/ML Prefilled Syringe C0995120
DISO_to_CHEMmay_treatimg DPH sodium 100 MG Extended Release Capsule [Dilantin] C0979504
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanVIM7431vimentin
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanTGFB17040transforming growth factor, beta 1
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanPLEC5339plectin
img GENERIF, Score=1000, Pubmed Id: 15654962, UMLKSK CUI: C0014527
HumanLAMC23918laminin, gamma 2
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanLAMB33914laminin, beta 3
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanLAMA53911laminin, alpha 5
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanLAMA33909laminin, alpha 3
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanKRT183875keratin 18
img GENERIF, Score=1000, Pubmed Id: 17617404, UMLKSK CUI: C0014527
HumanKRT143861keratin 14
img OMIM, Score=1000, UMLKSK CUI: C0014527
HumanKRT53852keratin 5
img OMIM, Score=1000, UMLKSK CUI: C0014527
img GENERIF, Score=734, Pubmed Id: 17855059, UMLKSK CUI: C0014527
HumanITGB43691integrin, beta 4
img GENERIF, Score=1000, Pubmed Id: 18348258, UMLKSK CUI: C0014527
img OMIM, Score=1000, UMLKSK CUI: C0014527
HumanCOL17A11308collagen, type XVII, alpha 1
img GENERIF, Score=673, Pubmed Id: 16417243, UMLKSK CUI: C0014527
img GENERIF, Score=1000, Pubmed Id: 15009107, UMLKSK CUI: C0014527
img GENERIF, Score=1000, Pubmed Id: 16354180, UMLKSK CUI: C0014527
img GENERIF, Score=1000, Pubmed Id: 17657247, UMLKSK CUI: C0014527
HumanCOL7A11294collagen, type VII, alpha 1
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanCOL1A11277collagen, type I, alpha 1
INFERRED, Score=800, UMLKSK CUI: C0014527
HumanSERPINH1871serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
INFERRED, Score=800, UMLKSK CUI: C0014527
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014527Epidermolysis Bullosa0self