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Details
Link-It Detail - Disease - Mandibulofacial Dysostosis
Debug Stats
  • ### Total Build Time: 46 ms 25.550 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 664 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 559 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 556 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 4.120 KB
  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 13.285 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 4.691 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Mandibulofacial Dysostosis C0242387
Definition (1)
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Craniofacial Dysostosis C0010273
Children (1)
img Goldenhar Syndrome C0265240
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Craniofacial Dysostosis C0010273
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Craniofacial Dysostosis C0010273
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Craniofacial Dysostosis C0010273
Relationships (41)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 34
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
gene_​product_​malfunction_​associated_​with_​disease : 1
isa : 1
manifestation_​of : 13
mapped_​to : 14
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO31img Complication Aspects C1171258
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_CHEM17img Nuclear Proteins C0028589
DISO_to_CHEM17img Phosphoprotein C0031689
DISO_to_DISO10img 4-12 CONGENITAL ANOMALIES OF THE LIMBS C0206762
DISO_to_DISO9img Abnormalities, Multiple C0000772
DISO_to_CHEM8img Phosphoprotein C0031689
DISO_to_DISO8img Abnormalities, Multiple C0000772
DISO_to_PHYS8img Mutation C0026882
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Treacher Collins Syndrome Protein C2700067
DISO_to_DISOmapped_toimg ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ C1860119
DISO_to_DISOmapped_toimg ACROFRONTOFACIONASAL DYSOSTOSIS 1 C1860118
DISO_to_DISOmapped_toimg Acrofacial dysostosis Catania form C2931762
DISO_to_DISOmapped_toimg Acrofacial dysostosis Richieri Costa Guion-Almeida type C2930979
DISO_to_DISOmapped_toimg Acrofacial dysostosis, Palagonia type C1866168
DISO_to_DISOmanifestation_ofimg Anti-mongoloid tilt C0423110
DISO_to_DISOmanifestation_ofimg Blind fistula C0333339
DISO_to_DISOmapped_toimg Branchial Arch Syndrome, X-Linked C1844918
DISO_to_DISOmanifestation_ofimg Caused by mutations in Treacle gene (TCOF1, 154500.0001) C1835149
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Coloboma, lower eyelid C1837826
DISO_to_DISOisaimg Complete mandibulofacial dysostosis C0265241
DISO_to_DISOmanifestation_ofimg Conductive hearing loss C0018777
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTCOF16949Treacher Collins-Franceschetti syndrome 1
img GENERIF, Score=1000, Pubmed Id: 12210332, UMLKSK CUI: C0242387
img GENERIF, Score=1000, Pubmed Id: 15039977, UMLKSK CUI: C0242387
img GAD, Score=1000, Pubmed Id: 15340364, UMLKSK CUI: C0242387
img GENERIF, Score=1000, Pubmed Id: 15832313, UMLKSK CUI: C0242387
img GENERIF, Score=1000, Pubmed Id: 16102917, UMLKSK CUI: C0242387
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0242387Mandibulofacial Dysostosis0self