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Details
Link-It Detail - Disease - Cleidocranial Dysplasia
Debug Stats
  • ### Total Build Time: 114 ms 28.282 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 406 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=6 ms Completed: 6 ms rowSize= 1,002 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=16 ms Completed: 16 ms rowSize= 4.125 KB
  • CONCEPT_RELATIONSHIPS gt=72 ms Completed: 72 ms rowSize= 14.326 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.744 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cleidocranial Dysplasia C0008928
Definition (1)
Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Osteochondrodysplasias C0029422
img Craniofacial Abnormalities C0376634
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
Relationships (75)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 4
diso_​to_​diso : 63
diso_​to_​gene : 2
diso_​to_​phen : 2


Relationships:
none : 7
associated_​with : 2
expanded_​form_​of : 1
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
location_​of : 3
manifestation_​of : 56
mapped_​to : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN42img genetic aspects C0017399
DISO_to_PHEN40img genetic aspects C0017399
DISO_to_CHEM29img Core Binding Factor Alpha 1 Subunit C0539345
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_CHEM14img NEOPL PROTEINS C0027642
DISO_to_CHEM14img Neoplasm Proteins C0027642
DISO_to_ANATlocation_ofimg Bone structure of clavicle C0008913
DISO_to_ANATlocation_ofimg Bone structure of cranium C0037303
DISO_to_ANATlocation_ofimg Skull C0037303
DISO_to_ANATmanifestation_ofimg Structure of wormian bone C0222716
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Core Binding Factor Alpha 1 Subunit C0539345
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOmanifestation_ofimg Abnormal facility in opposing the shoulders C1861517
DISO_to_DISOmanifestation_ofimg Absent frontal sinuses C1849544
DISO_to_DISOmanifestation_ofimg Absent paranasal sinuses C1857131
DISO_to_DISOmanifestation_ofimg Ageneses, Enamel C0011351
DISO_to_DISOmanifestation_ofimg Anterior fontanelle open in adults C1861520
DISO_to_DISOmanifestation_ofimg Aplastic clavicles C1861518
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Bossing of frontal bone C1861524
DISO_to_DISOmanifestation_ofimg Bossing of occipital bone C1861525
DISO_to_DISOmanifestation_ofimg Bossing of parietal bone C1861526
DISO_to_DISOmanifestation_ofimg Broad femoral head with short femoral neck C1861529
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanRUNX2860runt-related transcription factor 2
img GENERIF, Score=694, Pubmed Id: 17522365, UMLKSK CUI: C0008928
img GENERIF, Score=734, Pubmed Id: 16270353, UMLKSK CUI: C0008928
img GENERIF, Score=673, Pubmed Id: 17973689, UMLKSK CUI: C0008928
img GENERIF, Score=1000, Pubmed Id: 11857736, UMLKSK CUI: C0008928
img GENERIF, Score=1000, Pubmed Id: 16244783, UMLKSK CUI: C0008928
img GENERIF, Score=694, Pubmed Id: 12815605, UMLKSK CUI: C0008928
img GENERIF, Score=1000, Pubmed Id: 12732182, UMLKSK CUI: C0008928
img GENERIF, Score=1000, Pubmed Id: 12196916, UMLKSK CUI: C0008928
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008928Cleidocranial Dysplasia0self