MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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Parent Node:
expandmyopathy of extraocular muscle (MONDO:0004746)
Parent Node:
expandmyopathy with eye involvement (MONDO:0020259)
Parent Node:
expandocular motility disease (MONDO:0001584)
Parent Node:
expandprogressive muscular dystrophy (MONDO:0016106)
Parent Node:
expandrare disorder with ptosis (MONDO:0020169)
Parent Node:
expandsyndrome with a symptomatic strabismus (MONDO:0020253)
..Starting node
..expandcongenital fibrosis of extraocular muscles ()

       Child Nodes:
........expandCFEOM3C ()
........expandcongenital fibrosis of extraocular muscles type 1 ()
........expandfibrosis of extraocular muscles, congenital, 2 ()
........expandfibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement ()
........expandfibrosis of extraocular muscles, congenital, 5 ()
........expandfibrosis of extraocular muscles, congenital, with synergistic divergence ()
........expandTukel syndrome ()



 Sister Nodes: 
..expandcat-eye syndrome ()
..expandcongenital fibrosis of extraocular muscles ()
..expandCornelia de Lange syndrome ()
..expandcraniostenosis associated with a strabismus ()
..expandCri-du-chat syndrome ()
..expandDuane retraction syndrome ()
..expandDuane-radial ray syndrome ()
..expandfragile X syndrome ()
..expandhorizontal gaze palsy with progressive scoliosis ()
..expandintellectual disability-strabismus syndrome ()
..expandJoubert syndrome with ocular defect ()
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandLeigh disease ()
..expandmaternally-inherited progressive external ophthalmoplegia ()
..expandMobius syndrome ()
..expandoculorenocerebellar syndrome ()
..expandsevere hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ()
..expandsevere intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome ()
..expandTreacher-Collins syndrome ()
..expandtrisomy 13 ()
..expandWaardenburg syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7614
Name:congenital fibrosis of extraocular muscles
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:blepharoptosis with absent eye movements; CFEOM1; congenital fibrosis of the extraocular muscles; FEOM; Feom1 locus; fibrosis of extraocular muscles, congenital; fibrosis of extraocular muscles, congenital, 1; fibrosis of extraocular muscles, congenital, 1; CFEOM1; fibrosis of extraocular muscles, c
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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