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Details
Link-It Detail - Disease - Port-Wine Stain
Debug Stats
  • ### Total Build Time: 78 ms 19.838 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 335 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 554 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.831 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 9.144 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 5.304 KB
  • CONCEPT_XREFS gt=13 ms Completed: 13 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Port-Wine Stain C0235752
Definition (1)
A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Skin Abnormalities C0037268
Ancestral Roots
RootRoot Plus OneDepthParent
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 Abnormalities C0037268
Relationships (21)

Relation Types:
diso_​to_​anat : 6
diso_​to_​diso : 15


Relationships:
none : 15
associated_​with : 1
is_​associated_​anatomic_​site_​of : 2
location_​of : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO34img Complication Aspects C1171258
DISO_to_DISO28img Complication Aspects C1171258
DISO_to_DISO21img Skin Neoplasms C0037286
DISO_to_ANAT16img Skin C1123023
DISO_to_DISO16img Cutaneous tumor C0037286
DISO_to_DISO14img Hemangioma C0018916
DISO_to_DISO13img Dermatoses, Facial C0015456
DISO_to_DISO12img Hemangioma C0018916
DISO_to_ANAT10img Skin C1123023
DISO_to_DISO9img Sturge-Weber Syndrome C0038505
DISO_to_DISO8img Dermatoses, Facial C0015456
DISO_to_ANAT7img Blood capillaries C0006901
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_DISO7img Granuloma, Pyogenic C0085653
DISO_to_DISO7img Telangiectasis C0039446
DISO_to_ANATis_associated_anatomic_site_ofimg Cardiovascular System C0007226
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_ANATis_associated_anatomic_site_ofimg Vascular System C0489903
DISO_to_DISOassociated_withimg NEVUS VASCULAR C0265973
DISO_to_DISOmapped_toimg Nevi flammei, familial multiple C2931029
DISO_to_DISOpermuted_term_ofimg Port-Wine Stain C0235752
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanCD9610225CD96 molecule
img OMIM, Score=966, UMLKSK CUI: C0235752
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=1000, Pubmed Id: 18922344, UMLKSK CUI: C0235752
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0235752
HumanTRIM374591tripartite motif containing 37
img OMIM, Score=849, UMLKSK CUI: C0235752
HumanKDR3791kinase insert domain receptor (a type III receptor tyrosine kinase)
img GENERIF, Score=1000, Pubmed Id: 18922344, UMLKSK CUI: C0235752
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0235752Port-Wine Stain0self