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Details
Link-It Detail - Disease - Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis
Debug Stats
  • ### Total Build Time: 97 ms 16.469 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 434 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 375 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= 12.158 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.249 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.201 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis C1864436
Definition (1)
A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes.
Relationships (26)

Relation Types:
diso_​to_​diso : 26


Relationships:
expanded_​form_​of : 1
manifestation_​of : 25
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Broad halluces C1844565
DISO_to_DISOmanifestation_ofimg Broad, thimble-like middle phalanges C1970375
DISO_to_DISOmanifestation_ofimg Bulging of temporal fossae C1970374
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg CLINODACTYLY C0265610
DISO_to_DISOmanifestation_ofimg Calcaneocuboidal fusions C1970376
DISO_to_DISOmanifestation_ofimg Capitate-hamate fusion C1857002
DISO_to_DISOmanifestation_ofimg Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0014) C1970377
DISO_to_DISOmanifestation_ofimg Coned epiphyses C1846954
DISO_to_DISOmanifestation_ofimg Coronal craniosynostosis (unicoronal or bicoronal, Unilateral or bilateral) C1970373
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Downslanted palpebral fissures C1865016
DISO_to_DISOmanifestation_ofimg Females more severely affected than males C1970378
DISO_to_DISOexpanded_form_ofimg Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis C1864436
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Hypertelorism C0020534
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Low-set frontal hairline C1970372
DISO_to_DISOmanifestation_ofimg Macrocephaly C0221355
DISO_to_DISOmanifestation_ofimg Midface hypoplasia C1853242
DISO_to_DISOmanifestation_ofimg Normal height C0587053
DISO_to_DISOmanifestation_ofimg Plagiocephaly C0265529
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFGFR32261fibroblast growth factor receptor 3
img GENERIF, Score=734, Pubmed Id: 18818193, UMLKSK CUI: C1864436
img GENERIF, Score=1000, Pubmed Id: 18000976, UMLKSK CUI: C1864436
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1864436Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis0self