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Details
Link-It Detail - Disease - DEB, PRURIGINOSA
Debug Stats
  • ### Total Build Time: 99 ms 14.685 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=74 ms Completed: 74 ms rowSize= 10.229 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.913 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DEB, PRURIGINOSA C1275114
Relationships (25)

Relation Types:
diso_​to_​diso : 25


Relationships:
alias_​of : 1
manifestation_​of : 24
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Albopapuloid lesions may occur C2676806
DISO_to_DISOmanifestation_ofimg Atrophia unguium C0455950
DISO_to_DISOmanifestation_ofimg Blistering and erosions tend to occur on extensor surfaces or over bony prominences C2676814
DISO_to_DISOmanifestation_ofimg Blistering frequency may decrease with age C2676815
DISO_to_DISOmanifestation_ofimg Blistering, recurrent C2676803
DISO_to_DISOmanifestation_ofimg Blisters are precipitated by minor skin trauma C2676813
DISO_to_DISOmanifestation_ofimg Bullosa Dystrophica, Epidermolysis C0079294
DISO_to_DISOmanifestation_ofimg Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0009). C2676811
DISO_to_DISOmanifestation_ofimg Cicatrices, Hypertrophic C0162810
DISO_to_DISOalias_ofimg DEB, PRURIGINOSA C1275114
DISO_to_DISOmanifestation_ofimg Decreased number of anchoring fibrils at dermal-epidermal junction C2676808
DISO_to_DISOmanifestation_ofimg Decreased staining for collagen VII C2676810
DISO_to_DISOmanifestation_ofimg Dystrophia unguium C0221260
DISO_to_DISOmanifestation_ofimg Erosion lesion C1959609
DISO_to_DISOmanifestation_ofimg Hypotrophic anchoring fibrils C2676809
DISO_to_DISOmanifestation_ofimg Intrafamilial variability C1837526
DISO_to_DISOmanifestation_ofimg Lichenified lesions C2676805
DISO_to_DISOmanifestation_ofimg Milium Cyst C0345996
DISO_to_DISOmanifestation_ofimg Nodular lesions C1518345
DISO_to_DISOmanifestation_ofimg Prurigo C0033771
DISO_to_DISOmanifestation_ofimg Pruritis, intense C2676804
DISO_to_DISOmanifestation_ofimg See also dominant DEB (131750), an allelic disorder with a similar phenotype C2676816
DISO_to_DISOmanifestation_ofimg Skin fragility C0549419
DISO_to_DISOmanifestation_ofimg Sublamina densa level of tissue separation beneath basal membrane C2676807
DISO_to_DISOmanifestation_ofimg Variable age at onset from childhood to adulthood C2676812
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCOL7A11294collagen, type VII, alpha 1
img GENERIF, Score=1000, Pubmed Id: 17106611, UMLKSK CUI: C1275114
img GENERIF, Score=923, Pubmed Id: 17336503, UMLKSK CUI: C1275114
img GENERIF, Score=884, Pubmed Id: 12353709, UMLKSK CUI: C1275114
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1275114DEB, PRURIGINOSA0self