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Details
Link-It Detail - Disease - Facial Asymmetry
Debug Stats
  • ### Total Build Time: 28 ms 30.330 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 199 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 571 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.560 KB
  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 12.580 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 13.689 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Facial Asymmetry C1306710
Definition (1)
Congenital or acquired asymmetry of the face.
Semantic Types (2)
Anatomical Abnormality (T190)
Pathologic Function (T046)
Parents (1)
img Pathological Conditions, Anatomical C0752135
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathological Conditions, Anatomical C07521353img Pathological Conditions, Anatomical C0752135
Relationships (39)

Relation Types:
diso_​to_​anat : 11
diso_​to_​diso : 26
diso_​to_​phen : 2


Relationships:
none : 30
associated_​with : 1
isa : 1
location_​of : 1
mapped_​to : 5
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT95img Mandible C0024687
DISO_to_ANAT53img Mandible C0024687
DISO_to_DISO51img Complication Aspects C1171258
DISO_to_DISO50img Complication Aspects C1171258
DISO_to_DISO33img Malocclusion C0024636
DISO_to_ANAT32img Mandibular Condyle C0024688
DISO_to_DISO24img Malocclusion C0024636
DISO_to_DISO23img Class III malocclusion C0399526
DISO_to_DISO22img Disease, Mandibular C0024689
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_ANAT20img Bone structure of face C0015455
DISO_to_ANAT20img Face C0015450
DISO_to_ANAT20img Mandibular Condyle C0024688
DISO_to_ANAT18img Maxilla C0024947
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_ANAT17img Face C0015450
DISO_to_DISO17img Abnormalities, Multiple C0000772
DISO_to_DISO17img Cleft Palate C0008925
DISO_to_DISO16img CL - Cleft lip C0008924
DISO_to_DISO16img Class III malocclusion C0399526
DISO_to_DISO16img Temporomandibular Joint Disorders C0039494
DISO_to_DISO14img Class II division 2 malocclusion C0024638
DISO_to_DISO13img CL - Cleft lip C0008924
DISO_to_ANAT12img Maxilla C0024947
DISO_to_ANAT12img Temporomandibular Joint C0039493
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C1306710
img GENERIF, Score=1000, Pubmed Id: 16400610, UMLKSK CUI: C1306710
HumanSEPT910801septin 9
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanSMS6611spermine synthase
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanMYCN4613v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanGNAS2778GNAS complex locus
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanEFNB11947ephrin-B1
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanBMP4652bone morphogenetic protein 4
img OMIM, Score=1000, UMLKSK CUI: C1306710
HumanATR545ataxia telangiectasia and Rad3 related
img OMIM, Score=1000, UMLKSK CUI: C1306710
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1306710Facial Asymmetry0self