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Details
Link-It Detail - Disease - Craniofacial Dysostosis
Debug Stats
  • ### Total Build Time: 60 ms 40.256 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 250 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=0 Completed: 0 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 990 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.400 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 14.031 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 17.738 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)
Craniofacial Dysostosis C0010273
Definition (1)
Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (2)
img Craniofacial Abnormalities C0376634
img Dysostoses C0013393
Children (3)
img Hypertelorism C0020534
img Mandibulofacial Dysostosis C0242387
img Hallermanns Syndrome C0018522
Ancestral Roots
RootRoot Plus OneDepthParent
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
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dysostoses C0013393
Relationships (52)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 2
diso_​to_​diso : 43
diso_​to_​phen : 2


Relationships:
none : 9
alias_​of : 1
associated_​with : 1
is_​associated_​anatomic_​site_​of : 2
location_​of : 2
manifestation_​of : 26
mapped_​to : 9
permuted_​term_​of : 1
use : 1
Page Size
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO20img Acrocephalosyndactylia C1510455
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_CHEM14img Fibroblast Growth Factor Receptors C0060369
DISO_to_DISO12img Craniosynostoses C0010278
DISO_to_ANAT11img Bone structure of face C0015455
DISO_to_CHEM9img Receptor Protein-Tyrosine Kinases C0206364
DISO_to_ANATlocation_ofimg Bone structure of cranium C0037303
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATlocation_ofimg Face C0015450
DISO_to_ANATis_associated_anatomic_site_ofimg Skeletal bone C0262950
DISO_to_DISOmanifestation_ofimg 'HABSBURG JAW' C0266075
DISO_to_DISOmapped_toimg ACROCRANIOFACIAL DYSOSTOSIS C1860145
DISO_to_DISOassociated_withimg Abnormalities, Multiple C0000772
DISO_to_DISOmanifestation_ofimg Associated with increased paternal age C1852466
DISO_to_DISOmanifestation_ofimg Atretic external auditory canal C1866190
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmapped_toimg Bazopoulou Kyrkanidou syndrome C2931580
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Calcification of stylohyoid ligament C1852463
DISO_to_DISOmanifestation_ofimg Caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0001) C1852465
DISO_to_DISOmanifestation_ofimg Cervical spine abnormalities C1852464
DISO_to_DISOmanifestation_ofimg Conductive hearing loss C0018777
Genes (92)

Species:
human : 92
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanSOST50964sclerostin
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanSEC23A10484Sec23 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanZMPSTE2410269zinc metallopeptidase STE24
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanCD9610225CD96 molecule
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanGNE10020glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanZEB29839zinc finger E-box binding homeobox 2
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanCLINT19685clathrin interactor 1
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanSNAP299342synaptosomal-associated protein, 29kDa
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanPEX38504peroxisomal biogenesis factor 3
INFERRED, Score=800, UMLKSK CUI: C0010273
HumanOFD18481oral-facial-digital syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0010273
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010273Craniofacial Dysostosis0self