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:
expandeyebrow/eyelashes pigmentation anomaly (MONDO:0020191)
Parent Node:
expandhypopigmentation of the skin (disease) (MONDO:0019290)
Parent Node:
expandmalformation syndrome with skin/mucosae involvement (MONDO:0015331)
Parent Node:
expandsyndrome with a symptomatic strabismus (MONDO:0020253)
..Starting node
..expandWaardenburg syndrome ()

       Child Nodes:
........expandocular albinism with congenital sensorineural deafness ()
........expandWaardenburg syndrome type 1 ()
........expandWaardenburg syndrome type 2 ()
........expandWaardenburg syndrome type 3 ()
........expandWaardenburg-Shah 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:18094
Name:Waardenburg syndrome
Definition:Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
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Synonyms:Mende syndrome; Van der Hoeve Halbertsma Waardenburg Gualdi syndrome; van der Hoeve Halbertsona Waardenburg syndrome; Waardenburg Shah syndrome; Waardenburg syndrome; Waardenburg's syndrome; Waardenburg, types I and/or II
Slim Mappings:
Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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