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Details
Link-It Detail - Disease - Epidermolysis Bullosa Acquisita
Debug Stats
  • ### Total Build Time: 27 ms 18.781 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 371 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=4 ms Completed: 4 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 4.158 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 8.399 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 3.582 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Epidermolysis Bullosa Acquisita C0079293
Definition (1)
Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Epidermolysis Bullosa C0014527
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Epidermolysis Bullosa C0014527
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Epidermolysis Bullosa C0014527
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Epidermolysis Bullosa C0014527
Relationships (17)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 10
diso_​to_​phen : 1


Relationships:
none : 7
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 6
location_​of : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM15img Abs - Autoantibodies C0004358
DISO_to_CHEM14img Collagen Type VII C0009337
DISO_to_CHEM13img Abs - Autoantibodies C0004358
DISO_to_CHEM12img Collagen Type VII C0009337
DISO_to_DISO9img AUTOIMMUNE DIS C0004364
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOpermuted_term_ofimg Acquired Epidermolysis Bullosa C0079293
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOisaimg Drug-induced epidermolysis bullosa acquisita C1274954
DISO_to_DISOisaimg Epidermolysis bullosa acquisita, Brunsting-Perry type C1304233
DISO_to_DISOisaimg Epidermolysis bullosa acquisita, bullous pemphigoid-like C1304231
DISO_to_DISOisaimg Epidermolysis bullosa acquisita, cicatricial pemphigoid-like C1304232
DISO_to_DISOisaimg Epidermolysis bullosa acquisita, classical acral type C1304230
DISO_to_DISOisaimg Epidermolysis bullosa acquisita, oral mucosal involvement C1304234
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=1000, Pubmed Id: 12824005, UMLKSK CUI: C0079293
HumanCOL7A11294collagen, type VII, alpha 1
img GENERIF, Score=1000, Pubmed Id: 17525268, UMLKSK CUI: C0079293
HumanSERPINH1871serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
img GENERIF, Score=1000, Pubmed Id: 12824005, UMLKSK CUI: C0079293
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079293Epidermolysis Bullosa Acquisita0self