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Details
Link-It Detail - Disease - Campomelic Dysplasia
Debug Stats
  • ### Total Build Time: 301 ms 18.938 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 761 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 565 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.857 KB
  • CONCEPT_RELATIONSHIPS gt=269 ms Completed: 269 ms rowSize= 13.038 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Campomelic Dysplasia C1861922
Definition (1)
A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Musculoskeletal Abnormalities C0151491
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Musculoskeletal Abnormalities C0151491
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514913img Musculoskeletal Abnormalities C0151491
Relationships (55)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 52
diso_​to_​phen : 1


Relationships:
none : 3
manifestation_​of : 45
mapped_​to : 4
related_​to : 3
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_CHEM14img SOX 9 Transcription Factor C0291784
DISO_to_CHEM14img SOX9 Transcription Factor C0291784
DISO_to_DISOmanifestation_ofimg 11 pairs of ribs C1839731
DISO_to_DISOrelated_toimg ACAMPOMELIC CAMPOMELIC DYSPLASIA C1861923
DISO_to_DISOmapped_toimg ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE C0432209
DISO_to_DISOmanifestation_ofimg Absent olfactory tract or bulbs C1861924
DISO_to_DISOmanifestation_ofimg Absent ossification of proximal tibial, and distal femoral epiphysis C1861939
DISO_to_DISOmanifestation_ofimg Absent sternal mineralization C1861926
DISO_to_DISOmanifestation_ofimg Anterior bowing of tibia C1861937
DISO_to_DISOmanifestation_ofimg Apnea C0003578
DISO_to_DISOmanifestation_ofimg Birth length 35-49 cm C1861928
DISO_to_DISOrelated_toimg CAMPOMELIC DYSPLASIA C1861922
DISO_to_DISOrelated_toimg CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL C1842462
DISO_to_DISOmapped_toimg CAMPOMELIC DYSPLASIA, MILD C1865783
DISO_to_DISOmapped_toimg CAMPOMELIC SYNDROME, LONG-LIMB TYPE C1859354
DISO_to_DISOmapped_toimg CERVICAL LYMPHOCELE WITH BOWED LONG BONES C1859371
DISO_to_DISOmanifestation_ofimg Caused by mutations in the SRY-box 9 gene (SOX9, 114290.0001) C1861941
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Congenital Heart Defects C0018798
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmanifestation_ofimg Cutaneous dimpling over bowed tibia C1861940
DISO_to_DISOmanifestation_ofimg Depressed nasal root C1861931
DISO_to_DISOmanifestation_ofimg Dwarfism, short-limb, prenatal onset C1861927
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1861922Campomelic Dysplasia0self