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Details
Link-It Detail - Disease - Epidermolysis Bullosa, Junctional
Debug Stats
  • ### Total Build Time: 17 ms 23.104 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 426 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 459 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 4.158 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 7.583 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 8.569 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Epidermolysis Bullosa, Junctional C0079301
Junctional Epidermolysis Bullosa
Definition (1)
Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
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 (14)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 2
diso_​to_​diso : 8
diso_​to_​phen : 2


Relationships:
none : 5
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 4
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_CHEM11img Cell Adhesion Molecules C0007578
DISO_to_CHEM10img Laminin C0022984
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOisaimg Adult junctional epidermolysis bullosa (disorder) C0268374
DISO_to_DISOisaimg Congenital junctional epidermolysis bullosa-pyloric atresia syndrome C0268373
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOexpanded_form_ofimg Epidermolysis Bullosa, Junctional C0079301
DISO_to_DISOmapped_toimg Epidermolysis bullosa inversa dystrophica C2673609
DISO_to_DISOisaimg Generalised junctional epidermolysis bullosa C0474890
DISO_to_DISOisaimg Localised junctional epidermolysis bullosa C0474889
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanLAMC23918laminin, gamma 2
img GENERIF, Score=694, Pubmed Id: 15373767, UMLKSK CUI: C0079301
HumanLAMB33914laminin, beta 3
img GENERIF, Score=923, Pubmed Id: 16147969, UMLKSK CUI: C0079301
img GENERIF, Score=923, Pubmed Id: 18387282, UMLKSK CUI: C0079301
img GENERIF, Score=668, Pubmed Id: 17476356, UMLKSK CUI: C0079301
img GENERIF, Score=884, Pubmed Id: 15373767, UMLKSK CUI: C0079301
HumanLAMA53911laminin, alpha 5
img GENERIF, Score=923, Pubmed Id: 17000025, UMLKSK CUI: C0079301
HumanLAMA33909laminin, alpha 3
img GENERIF, Score=923, Pubmed Id: 12943669, UMLKSK CUI: C0079301
img GENERIF, Score=694, Pubmed Id: 15373767, UMLKSK CUI: C0079301
HumanITGB43691integrin, beta 4
img GENERIF, Score=694, Pubmed Id: 15009117, UMLKSK CUI: C0079301
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079301Epidermolysis Bullosa, Junctional0self