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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 syndrome
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Accession:DOID:9258 term browser browse the term
Definition:A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (DO)
Synonyms:exact_synonym: Klein Syndrome;   Klein's syndrome;   Kleins syndrome;   Waardenburg Shah syndrome;   Waardenburg's 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;   MIM:PS193500;   NCI:C75008;   NCI:C85222;   ORDO:3440;   ORDO:895


show annotations for term's descendants           Sort by:
Waardenburg 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...173,566,033
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:25741868 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: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 Snai2 snail family transcriptional repressor 2 ISS MouseDO NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200 		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...110,734,651
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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7778600 PMID:8001159 PMID:10528251 PMID:11891690 PMID:20127975 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
ISS		 OMIM:206920
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia with limb anomalies		 OMIM
MouseDO
CTD
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 Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease 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
ISS		 ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
OMIM:609136
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Van der Hoeve Halbertsma Waardenburg Gualdi 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: Mende Syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Mende Syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Mende Syndrome ClinVar PMID:17999358 PMID:20127975 PMID:24033266 PMID:26467025 PMID:27240497 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: Mende Syndrome ClinVar PMID:17999358 PMID:20127975 PMID:24033266 PMID:26467025 PMID:27240497 More... NCBI chr 7:110,725,274...110,734,651
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:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:28492532 More... 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
ISS		 OMIM:193500
ClinVar Annotator: match by term: Waardenburg syndrome type 1		 OMIM
MouseDO
ClinVar		 PMID:858969 PMID:1303193 PMID:1308353 PMID:1347148 PMID:1347149 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...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2 ClinVar PMID:9536098 PMID:17576681 PMID:21373256 PMID:21438779 PMID:25741868 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2D ClinVar PMID:12444107 PMID:32975012 NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: Waardenburg syndrome type 2A
OMIM:193510		 CTD
OMIM
ClinVar
MouseDO		 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...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		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 CTD 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:15004559 PMID:17999358 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.621C>A (p.Y207X)(human)
DNA:deletion:cds:c.743_744delAG (p.E248fsX30)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8911608 PMID:10077527 PMID:10441344 PMID:15004559 PMID:17999358 More... RGD:12832750, RGD:12802337 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg Syndrome Type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Waardenburg syndrome, type 2F OMIM
ClinVar		 PMID:25741868 PMID:28504826 PMID:35543077 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		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:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 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...110,734,651
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 ISS
ISO		 OMIM:277580
ClinVar Annotator: match by term: Waardenburg syndrome type 4A		 MouseDO
OMIM
ClinVar		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 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...110,734,651
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
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4B
OMIM:613265
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 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:15004559 PMID:18348274 PMID:21898658 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
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4C
OMIM:613266
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,725,274...110,734,651
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 19099
    syndrome 11271
      Waardenburg syndrome 15
        ABCD syndrome 1
        PCWH syndrome 3
        Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 4
        Waardenburg Syndrome Type 2 + 6
        Waardenburg Syndrome Type 4 + 7
        Waardenburg syndrome type 1 4
        Waardenburg syndrome type 3 1
        microphthalmia with limb anomalies 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10303
              autosomal dominant disease 6647
                Waardenburg syndrome 15
                  ABCD syndrome 1
                  PCWH syndrome 3
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 4
                  Waardenburg Syndrome Type 2 + 6
                  Waardenburg Syndrome Type 4 + 7
                  Waardenburg syndrome type 1 4
                  Waardenburg syndrome type 3 1
                  microphthalmia with limb anomalies 1
paths to the root