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Details
Link-It Detail - Disease - Hypertelorism
Debug Stats
  • ### Total Build Time: 139 ms 43.319 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 260 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 559 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 4.120 KB
  • CONCEPT_RELATIONSHIPS gt=80 ms Completed: 80 ms rowSize= 12.848 KB
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 23.866 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypertelorism C0020534
Definition (1)
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Craniofacial Dysostosis C0010273
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Craniofacial Dysostosis C0010273
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Craniofacial Dysostosis C0010273
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Craniofacial Dysostosis C0010273
Relationships (32)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 27
diso_​to_​phen : 2


Relationships:
none : 13
associated_​with : 1
classifies : 1
expanded_​form_​of : 1
location_​of : 2
mapped_​to : 14
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_DISO15img Abnormalities, Multiple C0000772
DISO_to_DISO14img Abnormalities, Multiple C0000772
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_DISO12img Abnormalities, Craniofacial C0376634
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_ANAT7img Ocular orbit C0029180
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISO6img Hypospadias C0848558
DISO_to_DISO5img Bone Diseases, Developmental C0005941
DISO_to_DISO5img Cleft Palate C0008925
DISO_to_DISO5img Congenital cerebral hernia C0014065
DISO_to_DISO5img ECTROMELIA C0013589
DISO_to_ANATlocation_ofimg Eye C0015392
DISO_to_ANATlocation_ofimg Orbital region C0700042
DISO_to_DISOmapped_toimg ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES C1855904
DISO_to_DISOmapped_toimg BRACHYCEPHALOFRONTONASAL DYSPLASIA C1840378
DISO_to_DISOmapped_toimg Bagatelle Cassidy syndrome C2931616
DISO_to_DISOmapped_toimg Barber Say syndrome C1319466
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOmapped_toimg Craniometaphyseal dysplasia C0265292
DISO_to_DISOmapped_toimg De Hauwere Leroy Adriaenssens syndrome C2931078
DISO_to_DISOmapped_toimg Gastrocutaneous syndrome C1850899
DISO_to_DISOmapped_toimg Hirschsprung disease, deafness and polydactyly C2931452
DISO_to_DISOexpanded_form_ofimg Hypertelorism C0020534
Genes (88)

Species:
human : 88
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanSOST50964sclerostin
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanSEC23A10484Sec23 homolog A (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanGNE10020glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanCLINT19685clathrin interactor 1
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanSNAP299342synaptosomal-associated protein, 29kDa
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0020534
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0020534
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020534Hypertelorism0self