MCID: WRD001
MIFTS: 65

Waardenburg's Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:43 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. the four known types of waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. in addition, hearing loss occurs more often in people with type 2 than in those with type 1. waardenburg syndrome type 3 (sometimes called klein-waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. waardenburg syndrome type 4 (also known as waardenburg-shah syndrome) has signs and symptoms of both waardenburg syndrome and hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. last updated: 4/18/2011

MalaCards based summary: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome type 4 and microphthalmia, and has symptoms including conductive hearing impairment, prominent nasal bridge and synophrys. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Regulation of retinoblastoma protein and Transcription factors in neurogenesis. The compounds kojic acid and bq610 have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are hearing/vestibular/ear and tumorigenesis.

Disease Ontology:10 An autosomal disease 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.

Genetics Home Reference:23 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

Aliases & Classifications for Waardenburg's Syndrome

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Sources:
10Disease Ontology, 23Genetics Home Reference, 65Wikipedia, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 12DISEASES, 45Novoseek, 40NCIt, 35MeSH, 29ICD9CM, 57SNOMED-CT, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Waardenburg's Syndrome, Aliases & Descriptions:

Name: Waardenburg's Syndrome 10 23
Waardenburg Syndrome 10 65 43 23 49
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 43 62
Van Der Hoeve Halbertsona Waardenburg Syndrome 10 62
Waardenburgs Syndrome 12 45
Male Ebp Disorder with Neurological Defects 49
Waardenburg, Types I and/or Ii 10
 
Waardenburg Syndrome, Type I 62
Waardenburg-Klein Syndrome 10
Waardenburg Shah Syndrome 10
Mende Syndrome 43
Mend Syndrome 49
Ws 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
waardenburg syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:9258
NCIt40 C85222
MeSH35 D014849
ICD9CM29 270.2
SNOMED-CT57 47434006
Orphanet49 3440, 401973
ICD10 via Orphanet28 E70.3
UMLS via Orphanet63 C0043008
MESH via Orphanet36 D014849

Related Diseases for Waardenburg's Syndrome

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Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4c Waardenburg Syndrome Type 4

Diseases related to Waardenburg's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome type 430.9EDNRB, EDN3, SOX10, RET, MITF
2microphthalmia30.7MITF, PAX3, TYR
3hirschsprung disease 130.5EDNRB, EDN3, SOX10, RET
4piebaldism30.4PAX3, MITF, SNAI2
5neural tube defects30.4PAX3
6ocular albinism30.3TYR
7waardenburg syndrome, type 110.8
8waardenburg syndrome, type 310.7
9waardenburg syndrome, type 2e, with or without neurologic involvement10.7
10waardenburg syndrome, type 2a10.6
11williams-beuren syndrome10.6
12waardenburg syndrome, type 4a10.6
13waardenburg syndrome, type 2b10.5
14waardenburg syndrome, type 2c10.5
15waardenburg syndrome, type 2d10.5
16waardenburg syndrome, type 4b10.5
17waardenburg syndrome, type 4c10.5
18pcwh syndrome10.5
19werner syndrome10.4
20waardenburg syndrome/ocular albinism, digenic10.3
21heterochromia iridis10.3
22albinism10.3
23anophthalmos with limb anomalies10.3
24megacolon10.2
25myelomeningocele10.2
26bile reflux10.1
27small patella syndrome10.0
28albinism-deafness syndrome10.0
29duchenne muscular dystrophy10.0
30meningocele10.0
31cleft lip10.0
32hypogonadotropism10.0
33crest syndrome10.0
34down syndrome10.0
35amblyopia10.0
36exotropia10.0
37hypogonadism10.0
38muscular dystrophy10.0
39ptosis10.0
40syndactyly10.0
41arbovirosis10.0
42craniotelencephalic dysplasia10.0
43exencephaly10.0
44laryngomalacia10.0
45neurologic waardenburg-shah syndrome10.0
46ocular albinism with congenital sensorineural deafness10.0
47cerebro-oculo-nasal syndrome10.0
48unilateral renal agenesis10.0
49melanoma, cutaneous malignant 810.0MITF, TYR
50malignant peripheral nerve sheath tumor10.0MITF, SOX10

Graphical network of the top 20 diseases related to Waardenburg's Syndrome:



Diseases related to waardenburg's syndrome

Symptoms for Waardenburg's Syndrome

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Symptoms:

 49 (show all 30)
  • facial dysmorphism
  • anomalies of eyes and vision
  • heterochromia/mixed colouring of iris
  • synophris/synophrys
  • high nasal bridge
  • hearing loss/hypoacusia/deafness
  • conductive deafness/hearing loss
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • premature greying of hair
  • decreased hair pigmentation/hypopigmentation of hair
  • autosomal dominant inheritance
  • face/facial anomalies
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • telecanthus/canthal dystopy
  • defect/anomaly of lacrimal system
  • broad nasal root
  • thin/hypoplastic ala nasi
  • anomalies of mouth, lip and philtrum
  • white forelock/piebaldism
  • ptosis
  • cleft lip and palate
  • intestinal/colonic anomaly
  • colonic atresia/stenosis/absence/agenesis/hypoplasia/microcolon
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intestinal obstruction/ileus
  • uterine/uterus/fallopian tubes anomalies
  • vagina anomalies/atresia/hydrometrocolpos/hymen imperforation
  • myelomeningocele

HPO human phenotypes related to Waardenburg's Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 conductive hearing impairment hallmark (90%) HP:0000405
2 prominent nasal bridge hallmark (90%) HP:0000426
3 synophrys hallmark (90%) HP:0000664
4 hypopigmented skin patches hallmark (90%) HP:0001053
5 heterochromia iridis hallmark (90%) HP:0001100
6 abnormal facial shape hallmark (90%) HP:0001999
7 premature graying of hair hallmark (90%) HP:0002216
8 underdeveloped nasal alae typical (50%) HP:0000430
9 wide nasal bridge typical (50%) HP:0000431
10 telecanthus typical (50%) HP:0000506
11 lacrimation abnormality typical (50%) HP:0000632
12 white forelock typical (50%) HP:0002211
13 abnormality of the vagina occasional (7.5%) HP:0000142
14 oral cleft occasional (7.5%) HP:0000202
15 ptosis occasional (7.5%) HP:0000508
16 aganglionic megacolon occasional (7.5%) HP:0002251
17 myelomeningocele occasional (7.5%) HP:0002475
18 intestinal obstruction occasional (7.5%) HP:0005214
19 aplasia/hypoplasia of the colon occasional (7.5%) HP:0100811

Drugs & Therapeutics for Waardenburg's Syndrome

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Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

Search NIH Clinical Center for Waardenburg's Syndrome

Genetic Tests for Waardenburg's Syndrome

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Anatomical Context for Waardenburg's Syndrome

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MalaCards organs/tissues related to Waardenburg's Syndrome:

33
Skin, Eye, Colon, Uterus, Bone, Pituitary, Neutrophil

Animal Models for Waardenburg's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8MITF, ASS1, PAX3, EDNRB
2MP:00020068.3EDNRB, TYR, SOX10, PAX3, RET
3MP:00053918.3EDNRB, TYR, PAX3, ASS1, MITF, SNAI2
4MP:00053718.2EDNRB, TYR, SOX10, PAX3, RET, MITF
5MP:00011868.2SNAI2, EDNRB, EDN3, TYR, SOX10, PAX3
6MP:00053828.1EDNRB, SOX10, PAX3, MITF, SNAI2, GSK3B
7MP:00030127.9TYR, PAX3, RET, MITF, GSK3B
8MP:00053907.9EDNRB, TYR, PAX3, MITF, SNAI2, GSK3B
9MP:00053677.8GSK3B, RET, PAX3, TYR, EDNRB
10MP:00053857.8GSK3B, RET, PAX3, TYR, EDNRB
11MP:00053797.5TYR, SOX10, PAX3, RET, MITF, SNAI2
12MP:00053807.4EDNRB, EDN3, TYR, EBP, SOX10, PAX3
13MP:00053847.4EDNRB, TYR, SOX10, PAX3, ASS1, RET
14MP:00107717.3EDNRB, EDN3, TYR, EBP, SOX10, PAX3
15MP:00028737.2TYR, SOX10, PAX3, ASS1, RET, MITF
16MP:00053817.0EDNRB, EDN3, SOX10, PAX3, ASS1, RET
17MP:00053876.9EDNRB, TYR, PAX3, ASS1, RET, MITF
18MP:00053766.7EDNRB, TYR, SOX10, PAX3, ASS1, RET
19MP:00053786.2EDNRB, TYR, EBP, SOX10, PAX3, ASS1
20MP:00053866.2SOX10, TYR, EDN3, EDNRB, PAX3, ASS1
21MP:00036316.2SOX10, TYR, EDN3, EDNRB, PAX3, ASS1
22MP:00107685.8EDNRB, EDN3, TYR, EBP, SOX10, PAX3

Publications for Waardenburg's Syndrome

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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. (25565054)
2014
2
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
3
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
4
Waardenburg's syndrome a rare entity. (23119554)
1999
5
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
6
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
7
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
8
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
9
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
10
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
11
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
12
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
13
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
14
The eyes have it: Waardenburg's syndrome. (3468364)
1986
15
Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)
1986
16
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)
1986
17
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
18
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
19
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)
1984
20
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
21
Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)
1981
22
Waardenburg's syndrome. (7203595)
1980
23
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
24
Waardenburg's syndrome. (7401140)
1980
25
A possible animal model for Waardenburg's syndrome. (468455)
1979
26
Waardenburg's syndrome. (519746)
1979
27
Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)
1977
28
Waardenburg's syndrome in a girl. (1150316)
1975
29
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)
1974
30
Waardenburg's syndrome. Identification of patients. (4726720)
1973
31
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
32
Waardenburg's syndrome in an African child. (5444872)
1970
33
Waardenburg's syndrome. (5801408)
1969
34
Hypertelorism and Waardenburg's syndrome. (5801819)
1969
35
Medial canthoplasty in a child with Waardenburg's syndrome. Case report. (5791340)
1969
36
A Chinese family with Waardenburg's syndrome. (4966266)
1968
37
Vestibular function and additional findings in Waardenburg's syndrome. (4870323)
1968
38
Waardenburg's syndrome. (5658623)
1968
39
Waardenburg's Syndrome in an Indian family. (5589484)
1967
40
Waardenburg's syndrome. Report of a family. (6060805)
1967
41
Waardenburg's syndrome with fundus and other anomalies. (4958935)
1966
42
WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE. (14269024)
1965
43
WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED. (14339408)
1965
44
WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY. (14299408)
1965
45
WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)
1964
46
Waardenburg's syndrome in father and daughter. (13984948)
1962
47
Waardenburg's syndrome. (13947542)
1962
48
WAARDENBURG'S SYNDROME. (18170706)
1961
49
Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. (13722846)
1960
50
An English family with Waardenburg's syndrome. (13650669)
1959

Variations for Waardenburg's Syndrome

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Clinvar genetic disease variations for Waardenburg's Syndrome:

7 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1MITFMITF, IVS1DS, G-A, +1single nucleotide variantPathogenic
2MITFMITF, IVS4AS, A-C, -2single nucleotide variantPathogenic
3MITFNM_198159.2(MITF): c.1051T> C (p.Ser351Pro)single nucleotide variantPathogenicrs104893744GRCh37Chr 3, 70008461: 70008461
4MITFMITF, 1-BP DELdeletionPathogenic
5MITFNM_198159.2(MITF): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs104893746GRCh37Chr 3, 70005611: 70005611
6MITFNM_198159.2(MITF): c.1195T> C (p.Ser399Pro)single nucleotide variantPathogenicrs104893747GRCh37Chr 3, 70014031: 70014031
7PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
8PAX3PAX3, 1-BP DEL, 556CdeletionPathogenic
9PAX3PAX3, 18-BP DEL, EX2deletionPathogenic
10PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
11PAX3PAX3, 14-BP DEL, EX2deletionPathogenic
12PAX3PAX3, 1-BP DELdeletionPathogenic
13PAX3PAX3, 2-BP DEL, 556CAdeletionPathogenic
14PAX3NM_181457.3(PAX3): c.242G> C (p.Gly81Ala)single nucleotide variantPathogenicGRCh37Chr 2, 223161875: 223161875
15PAX3PAX3, 5-BP DEL, EX5deletionPathogenic
16PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
17PAX3NM_181457.3(PAX3): c.139A> C (p.Asn47His)single nucleotide variantPathogenicrs104893653GRCh37Chr 2, 223161879: 223161879
18PAX3PAX3, 13-BP DEL, NT384deletionPathogenic
19PAX3NM_181457.3(PAX3): c.268T> C (p.Tyr90His)single nucleotide variantPathogenicrs104893654GRCh37Chr 2, 223161750: 223161750
20PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851
21SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic

Expression for genes affiliated with Waardenburg's Syndrome

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Search GEO for disease gene expression data for Waardenburg's Syndrome.

Pathways for genes affiliated with Waardenburg's Syndrome

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Pathways related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MITF, PAX3
29.8PAX3, SOX10
39.6EDNRB, EDN3
49.5MITF, PAX3, SOX10
5
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.0MITF, SNAI2, GSK3B
68.7GSK3B, MITF, RET
7
Show member pathways
8.4EDNRB, TYR, MITF, GSK3B
88.3GSK3B, SNAI2, MITF, PAX3, SOX10

Compounds for genes affiliated with Waardenburg's Syndrome

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Compounds related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1kojic acid4510.0MITF, TYR
2bq6104510.0EDNRB, EDN3
3pd 1428934510.0EDNRB, EDN3
4bq 302045 3011.0EDNRB, EDN3
5irl 162045 3011.0EDNRB, EDN3
6fr13931745 3011.0EDNRB, EDN3
7sarafotoxin4510.0EDNRB, EDN3
8tezosentan4510.0EDNRB, EDN3
9bq78845 3011.0EDN3, EDNRB
10bosentan45 1311.0EDN3, EDNRB
11hmba459.9MITF, TYR
12phosphoramidon45 1310.8EDNRB, EDN3
13dopachrome459.6TYR, SOX10, MITF
14tetrahydrobiopterin45 26 1311.6ASS1, TYR
15bq12345 3010.5EDNRB, EDN3, TYR
16indomethacin45 30 61 1312.2TYR, EDN3, EDNRB
17oligonucleotide459.2MITF, RET, PAX3, EDN3
18paraffin459.0MITF, RET, TYR
19adenylate458.9EDNRB, EDN3, TYR, ASS1
20dexamethasone45 51 30 1311.9EDNRB, EDN3, TYR, ASS1
21vegf458.7EDNRB, EDN3, TYR, RET
22cyclic amp45 269.6GSK3B, MITF, RET, EDN3
23glutamate458.6EDNRB, EDN3, TYR, ASS1, MITF
24potassium45 26 1310.5EDNRB, EDN3, GSK3B
25cysteine458.5RET, PAX3, TYR, EDNRB
26testosterone45 61 26 1311.4EDN3, TYR, RET, GSK3B
27phosphatidylinositol458.4EDNRB, EDN3, RET, GSK3B
28aspartate458.4EDNRB, EDN3, TYR, ASS1, RET
29atp45 309.1EDN3, ASS1, RET, GSK3B
30arginine458.1EDNRB, EDN3, TYR, ASS1, RET, MITF
31serine457.9EDNRB, EDN3, TYR, RET, GSK3B
32alanine457.5EDNRB, EDN3, TYR, ASS1, RET, GSK3B
33tyrosine457.2GSK3B, EDNRB, EDN3, TYR, PAX3, RET

GO Terms for genes affiliated with Waardenburg's Syndrome

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Cellular components related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:00451218.6GSK3B, RET, EDNRB

Biological processes related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:00148269.8EDNRB, EDN3
2vasoconstrictionGO:00423109.6EDNRB, EDN3
3posterior midgut developmentGO:00074979.6RET, EDNRB
4response to painGO:00482659.5EDNRB, RET
5positive regulation of cell proliferationGO:00082849.4PAX3, EDN3, EDNRB
6peripheral nervous system developmentGO:00074229.3SOX10, EDNRB
7epithelial to mesenchymal transitionGO:00018379.2GSK3B, SNAI2
8enteric nervous system developmentGO:00484849.2RET, SOX10, EDNRB
9melanocyte differentiationGO:00303189.2EDNRB, EDN3, SOX10, MITF
10negative regulation of canonical Wnt signaling pathwayGO:00900909.0GSK3B, SNAI2, SOX10
11neural crest cell migrationGO:00017558.6RET, PAX3, SOX10, EDN3, EDNRB

Molecular functions related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.1SNAI2, MITF, PAX3, SOX10
2chromatin bindingGO:00036828.9SOX10, PAX3, MITF, SNAI2
3protein bindingGO:00055156.5TYR, SOX10, PAX3, ASS1, RET, MITF

Products for genes affiliated with Waardenburg's Syndrome

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Sources for Waardenburg's Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet