Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
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 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.


show annotations for term's descendants           Sort by:
 
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 4:174,799,378...174,863,260
Ensembl chr 4:174,810,959...174,863,260
JBrowse link
G Edn3 endothelin 3 ISO Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:deletion:exon
ClinVar Annotator: match by term: Waardenburg syndrome
ClinVar PMID:8630502 RGD:1601001 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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-Shah syndrome
ClinVar Annotator: match by term: Waardenburg syndrome
ClinVar PMID:8001158, PMID:8852659, PMID:8852660, PMID:10090908, PMID:10458491, PMID:10664228, PMID:14633923, PMID:16145050, PMID:16954478, PMID:17011274, PMID:18162831, PMID:19320733, PMID:20009762, PMID:21507037, PMID:22993632, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532, PMID:29407415, PMID:8634719 RGD:1601006 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Waardenburg syndrome ClinVar PMID:30311386, PMID:8589691 RGD:1599944 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
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)
ClinVar Annotator: match by OMIM:193500
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1349198, PMID:1536170, PMID:7091186, PMID:7726174, PMID:8447316, PMID:8533800, PMID:8589691, PMID:8863157, PMID:9017978, PMID:9584079, PMID:9654197, PMID:9856573, PMID:11683776, PMID:12949970, PMID:18553554, PMID:20127975, PMID:23806086, PMID:24033266, PMID:24088041, PMID:25736269, PMID:25741868, PMID:26467025, PMID:26512583, PMID:28492532, PMID:29407415, PMID:8589691, PMID:12949970 RGD:1599944, RGD:1580943 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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, PMID:25741868, PMID:26467025, PMID:27240497, PMID:28492532 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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, PMID:25741868, PMID:26467025, PMID:27240497, PMID:28492532 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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:25741868, PMID:26100139, PMID:26467025 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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: Anophthalmos with limb anomalies
ClinVar Annotator: match by OMIM:206920
OMIM
ClinVar
PMID:19208380, PMID:21194678, PMID:21194680, PMID:23646827, PMID:28085523 NCBI chr 6:104,718,403...104,879,611
Ensembl chr 6:104,718,512...104,877,980
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 chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar PMID:1636383, PMID:9462749, PMID:10482261, PMID:10762540, PMID:11026454, PMID:12447940, PMID:15004559, PMID:17855451, PMID:17999358, PMID:19764030, PMID:20127975, PMID:22008330, PMID:24033266, PMID:25741868, PMID:25991456, PMID:26467025, PMID:27240497, PMID:28492532 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar Annotator: match by OMIM:609136
OMIM
ClinVar
PMID:1636383, PMID:9462749, PMID:10482261, PMID:10762540, PMID:11026454, PMID:12447940, PMID:15004559, PMID:17855451, PMID:17999358, PMID:19764030, PMID:20127975, PMID:22008330, PMID:24033266, PMID:25741868, PMID:25991456, PMID:26467025, PMID:27240497, PMID:28492532, PMID:25959061 RGD:12802339 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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 Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Mende Syndrome ClinVar PMID:30311386 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Mende Syndrome ClinVar PMID:24033266, PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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
NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 1
ClinVar Annotator: match by term: Waardenburg's syndrome type 1
ClinVar
OMIM
PMID:1303193, PMID:1308353, PMID:1347148, PMID:1347149, PMID:1887852, PMID:7573125, PMID:7726174, PMID:7897628, PMID:8423616, PMID:8447316, PMID:8490648, PMID:8533800, PMID:8589691, PMID:8863157, PMID:9017978, PMID:9584079, PMID:9856573, PMID:20478267, PMID:21965087, PMID:23806086, PMID:24033266, PMID:24088041, PMID:25736269, PMID:25741868, PMID:25991456, PMID:26467025, PMID:28492532, PMID:29407415 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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:16145050, PMID:16954478, PMID:19320733, PMID:20009762, PMID:21507037, PMID:22993632, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532, PMID:29407415 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A
ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
ClinVar Annotator: match by OMIM:193510
OMIM
ClinVar
PMID:666627, PMID:2440678, PMID:7874167, PMID:8589691, PMID:8659547, PMID:9158138, PMID:9856573, PMID:10587587, PMID:22012259, PMID:22080950, PMID:22158021, PMID:23167872, PMID:23774529, PMID:23787126, PMID:23802662, PMID:24033266, PMID:24290354, PMID:24352080, PMID:24406078, PMID:24660985, PMID:24767713, PMID:25407435, PMID:25741868, PMID:25803691, PMID:25975176, PMID:26467025, PMID:26650189, PMID:26775776, PMID:26800492, PMID:26999813, PMID:27473757, PMID:27680874, PMID:27889061, PMID:28125078, PMID:28376192, PMID:28492532, PMID:29407415, PMID:29706638, PMID:30311386, PMID:30414346 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
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 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2A ClinVar PMID:25741868, PMID:29407415 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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 OMIM:608890 OMIM
ClinVar
PMID:12444107 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
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 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO 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, PMID:18627047, PMID:19208381, PMID:20478267, PMID:21898658, PMID:21965087, PMID:23643381, PMID:25741868 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 2E
DNA:missense mutation:cds:c.621C>A (p.Y207X)(human)
DNA:deletion:cds:c.743_744delAG (p.E248fsX30)(human)
ClinVar Annotator: match by OMIM:611584
ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement
ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement
OMIM
ClinVar
PMID:8911608, PMID:10077527, PMID:10441344, PMID:17999358, PMID:18348267, PMID:18627047, PMID:19208381, PMID:20478267, PMID:21898658, PMID:21965087, PMID:23643381, PMID:25741868, PMID:25817900, PMID:21965087 RGD:12832750, RGD:12802337 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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 with upper limb anomalies OMIM
ClinVar
PMID:1536170, PMID:7091186, PMID:7726174, PMID:8447316, PMID:11683776, PMID:12949970, PMID:20127975, PMID:24033266, PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar PMID:8001158, PMID:8852659, PMID:8852660, PMID:10090908, PMID:10458491, PMID:10664228, PMID:14633923, PMID:16145050, PMID:16954478, PMID:17011274, PMID:18162831, PMID:19320733, PMID:20009762, PMID:21507037, PMID:22993632, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532, PMID:29407415, PMID:21915282 RGD:6480217 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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
ClinVar Annotator: match by OMIM:277580
OMIM
ClinVar
PMID:7778600, PMID:8001158, PMID:8634719, PMID:8852659, PMID:8852660, PMID:10090908, PMID:10458491, PMID:10528251, PMID:10664228, PMID:11891690, PMID:14633923, PMID:16145050, PMID:16954478, PMID:17011274, PMID:18162831, PMID:19320733, PMID:20009762, PMID:21507037, PMID:22993632, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532, PMID:29407415 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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
ClinVar Annotator: match by OMIM:613265
OMIM
ClinVar
PMID:8630503, PMID:8696331, PMID:9359047, PMID:9587491, PMID:11303518, PMID:19556619, PMID:19764030, PMID:20583152, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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 Annotator: match by term: Waardenburg syndrome type 4C
ClinVar PMID:9462749, PMID:10077527, PMID:18348274, PMID:24033266, PMID:25741868, PMID:25991456 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar Annotator: match by OMIM:613266
OMIM
ClinVar
PMID:9462749, PMID:10077527, PMID:18348274, PMID:24033266, PMID:25741868, PMID:25991456 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Waardenburg's syndrome 12
        ABCD syndrome 1
        PCWH syndrome 3
        Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 2
        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 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Waardenburg's syndrome 12
                  ABCD syndrome 1
                  PCWH syndrome 3
                  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 2
                  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

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.