FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Waardenburg's syndrome
go back to main search page
Accession:DOID:9258 term browser browse the term
Definition:Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Synonyms:exact_synonym: Klein Syndrome;   Klein's syndrome;   Kleins syndrome;   Waardenburg syndrome;   Waardenburg syndrome with dystopia canthorum;   Waardenburgs syndrome;   White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations;   van der Hoeve Halbertsona Waardenburg syndrome
 narrow_synonym: Waardenburg, types I and/or II
 primary_id: MESH:D014849
 alt_id: OMIM:193500;   RDO:0002055
 xref: GARD:5525;   OMIM:PS193500;   ORDO:3440;   ORDO:895
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Waardenburg's syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp2 AE binding protein 2 JBrowse link 4 174,799,378 174,863,260 RGD:13592920
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:1601001
RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:1601006
RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:1599944
RGD:8554872
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:1599944
RGD:8554872
RGD:11554173
RGD:1580943
RGD:7240710
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Snai2 snail family transcriptional repressor 2 JBrowse link 11 90,404,421 90,406,730 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
ABCD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
microphthalmia with limb anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smoc1 SPARC related modular calcium binding 1 JBrowse link 6 104,718,403 104,879,611 RGD:7240710
RGD:8554872
PCWH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:13592920
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872
RGD:12802339
Waardenburg syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:13592920
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:8554872
RGD:13592920
Waardenburg syndrome type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
Waardenburg syndrome type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snai2 snail family transcriptional repressor 2 JBrowse link 11 90,404,421 90,406,730 RGD:7240710
RGD:8554872
Waardenburg syndrome type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:12832750
RGD:12802337
RGD:8554872
Waardenburg syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:8554872
RGD:7240710
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832744
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:7240710
RGD:8554872
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Waardenburg's syndrome 12
        ABCD syndrome 1
        PCWH syndrome 3
        Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 0
        Waardenburg Syndrome Type 4 + 6
        Waardenburg syndrome type 1 2
        Waardenburg syndrome type 2A 4
        Waardenburg syndrome type 2B 0
        Waardenburg syndrome type 2C 0
        Waardenburg syndrome type 2D 1
        Waardenburg syndrome type 2E 3
        Waardenburg syndrome type 3 1
        Waardenburg syndrome type 4A 3
        Waardenburg syndrome type 4B 1
        Waardenburg syndrome type 4C 2
        microphthalmia with limb anomalies 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                Waardenburg's syndrome 12
                  ABCD syndrome 1
                  PCWH syndrome 3
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 0
                  Waardenburg Syndrome Type 4 + 6
                  Waardenburg syndrome type 1 2
                  Waardenburg syndrome type 2A 4
                  Waardenburg syndrome type 2B 0
                  Waardenburg syndrome type 2C 0
                  Waardenburg syndrome type 2D 1
                  Waardenburg syndrome type 2E 3
                  Waardenburg syndrome type 3 1
                  Waardenburg syndrome type 4A 3
                  Waardenburg syndrome type 4B 1
                  Waardenburg syndrome type 4C 2
                  microphthalmia with limb anomalies 1
paths to the root