MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandautosomal dominant disease (MONDO:0000426)
Parent Node:
expandbranchial arch or oral-acral syndrome (MONDO:0015334)
Parent Node:
expanddysostosis with predominant craniofacial involvement (MONDO:0019710)
Parent Node:
expandeyebrow/eyelashes distichiasis (MONDO:0020190)
Parent Node:
expandgenetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability (MONDO:0043008)
Parent Node:
expandgenetic otorhinolaryngologic disease (MONDO:0018751)
Parent Node:
expandmalposition of external canthus (MONDO:0020167)
Parent Node:
expandmandibulofacial dysostosis (MONDO:0015483)
Parent Node:
expandPierre Robin syndrome associated with branchial archs anomalies (MONDO:0015321)
Parent Node:
expandrare disorder with ptosis (MONDO:0020169)
Parent Node:
expandsyndrome with a symptomatic strabismus (MONDO:0020253)
Parent Node:
expandsyndromic developmental defect of the eye (MONDO:0015218)
Parent Node:
expandsyndromic genetic deafness (MONDO:0019589)
Parent Node:
expandsyndromic palpebral coloboma (MONDO:0020157)
..Starting node
..expandTreacher-Collins syndrome ()

       Child Nodes:
........expandTreacher Collins syndrome 2 ()
........expandTreacher Collins syndrome 3 ()
........expandTreacher-Collins syndrome 1 ()



 Sister Nodes: 
..expandfrontofacionasal dysplasia ()
..expandGoldenhar syndrome ()
..expandNager acrofacial dysostosis ()
..expandnasopalpebral lipoma-coloboma syndrome ()
..expandpostaxial acrofacial dysostosis ()
..expandTreacher-Collins syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2457
Name:Treacher-Collins syndrome
Definition:Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:Franceschetti syndrome; Franceschetti-Klein syndrome; mandibulofacial dysostosis; mandibulofacial dysostosis without limb anomalies; MFD1; TCOF; TCS; Treacher Collins syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: LONP1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal