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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Waardenburg's syndrome
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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 Shah syndrome;   Waardenburg syndrome;   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
 xref: GARD:5525;   NCI:C75008;   NCI:C85222;   OMIM:PS193500;   ORDO:3440;   ORDO:895
For additional species annotation, visit the Alliance of Genome Resources.



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Waardenburg's syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp2 AE binding protein 2 ISS MouseDO NCBI chr 4:173,527,881...173,593,100
Ensembl chr 4:173,528,344...173,593,100
JBrowse link
G Edn3 endothelin 3 ISO Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:deletion:exon
ClinVar Annotator: match by term: Waardenburg syndrome
ClinVar
RGD
PMID:8630502 RGD:1601001 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Ednrb endothelin receptor type B ISO Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:point mutation:exon:A183G
ClinVar Annotator: match by term: Waardenburg syndrome
ClinVar
RGD
PMID:24033266 PMID:28492532 PMID:30311386 PMID:8634719 RGD:1601006 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Waardenburg syndrome ClinVar
RGD
PMID:25741868 PMID:30311386 PMID:8589691 RGD:1599944 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar Annotator: match by term: White forelock (poliosis) syndrome with multiple congenital malformations
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1308353 PMID:1349198 PMID:8447316 PMID:8533800 PMID:8589691 More... RGD:1599944, RGD:1580943 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome ClinVar PMID:9462749 PMID:17999358 PMID:20127975 PMID:22008330 PMID:24033266 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome ClinVar PMID:9462749 PMID:17999358 PMID:20127975 PMID:22008330 PMID:24033266 More... NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
JBrowse link
ABCD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: ABCD syndrome OMIM
ClinVar
PMID:7778600 PMID:11891690 PMID:24033266 PMID:25741868 PMID:26100139 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
microphthalmia with limb anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc1 SPARC related modular calcium binding 1 ISO ClinVar Annotator: match by term: Microphthalmia with limb anomalies OMIM
ClinVar
PMID:19208380 PMID:21194678 PMID:21194680 PMID:23646827 PMID:25741868 More... NCBI chr 6:100,701,330...100,897,441
Ensembl chr 6:100,701,346...100,862,699
JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: PCWH syndrome ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: PCWH syndrome OMIM
ClinVar
RGD
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS
ISO
OMIM:193500
ClinVar Annotator: match by term: Waardenburg syndrome type 1
MouseDO
ClinVar
PMID:25741868 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 1 OMIM
ClinVar
PMID:1303193 PMID:1308353 PMID:1347148 PMID:1347149 PMID:1887852 More... NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 1 ClinVar PMID:21898658 PMID:28390600 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 1 ClinVar PMID:21898658 PMID:28390600 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A OMIM
ClinVar
PMID:666627 PMID:2440678 PMID:7874167 PMID:8589691 PMID:8659547 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A ClinVar PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A ClinVar PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2D OMIM
ClinVar
PMID:12444107 NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200
JBrowse link
Waardenburg syndrome type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Waardenburg syndrome type 2
CTD
ClinVar
PMID:9158138 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement ClinVar PMID:8911608 PMID:10077527 PMID:10441344 PMID:17999358 PMID:18348267 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement
DNA:missense mutation:cds:c.621C>A (p.Y207X)(human)
DNA:deletion:cds:c.743_744delAG (p.E248fsX30)(human)
OMIM
ClinVar
RGD
PMID:8911608 PMID:10077527 PMID:10441344 PMID:17999358 PMID:18348267 More... RGD:12832750, RGD:12802337 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 3 OMIM
ClinVar
PMID:1536170 PMID:7091186 PMID:7726174 PMID:8019556 PMID:8447316 More... NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 More... RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A OMIM
ClinVar
PMID:7778600 PMID:8001158 PMID:8634719 PMID:8852659 PMID:8852660 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4B OMIM
ClinVar
PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C ClinVar PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C OMIM
ClinVar
PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 More... NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Waardenburg's syndrome 14
        ABCD syndrome 1
        PCWH syndrome 3
        Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 0
        Waardenburg Syndrome Type 4 + 7
        Waardenburg syndrome type 1 4
        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 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                Waardenburg's syndrome 14
                  ABCD syndrome 1
                  PCWH syndrome 3
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 0
                  Waardenburg Syndrome Type 4 + 7
                  Waardenburg syndrome type 1 4
                  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