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Details
Link-It Detail - Disease - Goldenhar Syndrome
Debug Stats
  • ### Total Build Time: 39 ms 9.850 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 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= 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= 562 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=18 ms Completed: 18 ms rowSize= 4.129 KB
  • CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 1.642 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 1.567 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Goldenhar Syndrome C0265240
Definition (1)
Mandibulofacial dysostosis with congenital eyelid dermoids.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Mandibulofacial Dysostosis C0242387
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514916img Mandibulofacial Dysostosis C0242387
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Mandibulofacial Dysostosis C0242387
img Musculoskeletal Diseases C0026857img Bone Diseases C00059407img Mandibulofacial Dysostosis C0242387
Relationships (2)

Relation Types:
diso_​to_​diso : 2


Relationships:
isa : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Goldenhar Syndrome C0265240
DISO_to_DISOused_forimg congenital oral/facial/cranial defect C0596372
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTCOF16949Treacher Collins-Franceschetti syndrome 1
img GENERIF, Score=1000, Pubmed Id: 12210332, UMLKSK CUI: C0265240
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265240Goldenhar Syndrome0self