MCID: WRD001
MIFTS: 53

Waardenburg's Syndrome malady

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

Aliases & Classifications for Waardenburg's Syndrome

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Sources:
65UMLS, 10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 68Wikipedia, 45NIH Rare Diseases, 51Orphanet, 36MeSH, 47Novoseek, 59SNOMED-CT, 42NCIt, 29ICD9CM, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 10 23 12
Waardenburg Syndrome 10 68 45 23 51 65 36
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 45 65
Van Der Hoeve Halbertsona Waardenburg Syndrome 10
Waardenburg, Types I and/or Ii 10
Waardenburg Syndrome, Type 4a 65
 
Waardenburg-Klein Syndrome 10
Waardenburg Shah Syndrome 10
Waardenburgs Syndrome 47
Klein's Syndrome 65
Mende Syndrome 45
Ws 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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
NCIt42 C85222
ICD9CM29 270.2
MeSH36 D014849
SNOMED-CT59 47434006
Orphanet51 3440
UMLS via Orphanet66 C0043008
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 D014849

Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:45 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 1 and waardenburg syndrome/ocular albinism, digenic, 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 Kit Receptor Signaling Pathway and Neural Crest Differentiation. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are no phenotypic analysis and renal/urinary system.

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.

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 Suite gene sharing:

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 131.5EDN3, MITF, PAX3, SOX10
2waardenburg syndrome/ocular albinism, digenic31.2MITF, TYR
3hirschsprung disease 130.4EDN3, EDNRB, MITF, PAX3, RET, SOX10
4waardenburg syndrome, type 310.8
5waardenburg syndrome, type 2e, with or without neurologic involvement10.7
6waardenburg syndrome, type 2a10.7
7waardenburg syndrome, type 4a10.7
8waardenburg syndrome, type 4b10.6
9waardenburg syndrome, type 4c10.6
10waardenburg syndrome type 410.6
11waardenburg syndrome, type 2b10.6
12waardenburg syndrome, type 2d10.6
13williams-beuren syndrome10.5
14waardenburg syndrome, type 2c10.5
15pcwh syndrome10.5
16mend syndrome10.5
17microphthalmia10.5
18werner syndrome10.4
19heterochromia iridis10.3
20idiopathic macular telangiectasia type 110.3MITF, TYR
21melanoma, cutaneous malignant 810.3MITF, TYR
22albinism, oculocutaneous, type ib10.3MITF, TYR
23albinism, oculocutaneous, type ia10.3MITF, TYR
24milk allergic reaction10.3MITF, TYR
25ocular albinism with sensorineural deafness10.2MITF, SNAI2, SOX10
26neural tube defects10.2
27piebaldism10.2
28ocular albinism10.2
29myelomeningocele10.2
30megacolon10.2
31albinism10.2
32anophthalmos with limb anomalies10.2
33craniofacial-deafness-hand syndrome10.2KIR2DS4, PAX3
34endometrial stromal nodule10.2PAX6, RET
35central hypoventilation syndrome, congenital10.2EDN3, EDNRB, RET
36gangliocytoma10.2KIT, MITF
37multiple endocrine neoplasia iib10.2EDNRB, RET
38glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2PAX6, TYR
39intestinal perforation10.2EDN3, EDNRB, RET
40liver fibroma10.2KIT, MITF
41fragile x-associated tremor/ataxia syndrome10.2KIT, RET
42femoral neuropathy10.1GJB2, MITF
43vulval paget's disease10.1KIT, TYR
44bile reflux10.1
45fallopian tube teratoma10.1KIT, MITF, SOX10
46peroxisomal disease10.1KIT, MITF, TYR
47color blindness10.1EDN3, EDNRB, RET, SOX10
48melanoma10.1EDN3, EDNRB, RET, SOX10
49angiomyoma10.1KIT, MITF, TYR
50intestinal obstruction10.1EDN3, EDNRB, RET, 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:

 51 (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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic KitRecruitingNCT02418936

Search NIH Clinical Center for Waardenburg's Syndrome


Cochrane evidence based reviews: Waardenburg 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, Neutrophil

Animal Models for Waardenburg's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg's Syndrome:

38 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1GJB2, KIT, MITF, PAX3, RET, TYR
2MP:00053678.9EDNRB, KIT, PAX3, PAX6, RET, TYR
3MP:00053888.8EDNRB, KIT, PAX3, PAX6, RET, SOX10
4MP:00053698.3COL6A3, EDNRB, FN1, KIT, PAX3, PAX6
5MP:00053718.2EDNRB, FN1, GJB2, KIT, MITF, PAX3
6MP:00053858.2EDNRB, FN1, GJB2, KIT, PAX3, PAX6
7MP:00011868.1EDN3, EDNRB, KIT, MITF, PAX3, PAX6
8MP:00053798.1KIT, MITF, PAX3, PAX6, RET, SNAI2
9MP:00053778.1ASS1, EDNRB, GJB2, KIT, MITF, PAX3
10MP:00053817.9ASS1, EDN3, EDNRB, KIT, PAX3, PAX6
11MP:00053827.8EDNRB, FN1, GJB2, KIT, MITF, PAX3
12MP:00020067.7EDNRB, FN1, KIT, PAX3, PAX6, RET
13MP:00028737.5ASS1, FN1, GJB2, KIT, MITF, PAX3
14MP:00053807.4EDN3, EDNRB, FN1, GJB2, KIT, PAX3
15MP:00053847.3ASS1, EDNRB, FN1, GJB2, KIT, PAX3
16MP:00053907.3COL6A3, EDNRB, FN1, GJB2, KIT, MITF
17MP:00053897.2FN1, GJB2, KIT, MITF, PAX6, RET
18MP:00053916.9ASS1, COL6A3, EDNRB, GJB2, KIT, MITF
19MP:00053866.8ASS1, EDN3, EDNRB, KIT, MITF, PAX3
20MP:00053876.7ASS1, EDNRB, FN1, GJB2, KIT, MITF
21MP:00107716.5ASS1, EDN3, EDNRB, FN1, GJB2, KIT
22MP:00053766.4ASS1, EDNRB, FN1, GJB2, KIT, MITF
23MP:00107686.2ASS1, EDN3, EDNRB, FN1, GJB2, KIT
24MP:00036316.0ASS1, EDN3, EDNRB, FN1, GJB2, KIT
25MP:00053785.9ASS1, COL6A3, EDNRB, FN1, GJB2, KIT

Publications for Waardenburg's Syndrome

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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
50 Years Ago in The Journal of Pediatrics: Waardenburg's Syndrome: The Risk of Recurrence of Congenital Deafness in a Kindred. (26319917)
2015
2
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. (25933462)
2015
3
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. (25565054)
2014
4
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
5
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
6
Waardenburg's syndrome a rare entity. (23119554)
1999
7
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
8
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
9
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
10
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
11
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
12
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
13
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
14
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
15
The eyes have it: Waardenburg's syndrome. (3468364)
1986
16
Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)
1986
17
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)
1986
18
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
19
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
20
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)
1984
21
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
22
Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)
1981
23
Waardenburg's syndrome. (7203595)
1980
24
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
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:

5 (show all 24)
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
7NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316
8NM_000115.3(EDNRB): c.548C> G (p.Ala183Gly)single nucleotide variantPathogenicrs104894388GRCh37Chr 13, 78477678: 78477678
9NM_000115.3(EDNRB): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenicrs104894390GRCh37Chr 13, 78477335: 78477335
10PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
11PAX3PAX3, 1-BP DEL, 556CdeletionPathogenic
12PAX3PAX3, 18-BP DEL, EX2deletionPathogenic
13PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
14PAX3PAX3, 14-BP DEL, EX2deletionPathogenic
15PAX3PAX3, 1-BP DELdeletionPathogenic
16PAX3PAX3, 2-BP DEL, 556CAdeletionPathogenic
17PAX3NM_181457.3(PAX3): c.242G> C (p.Gly81Ala)single nucleotide variantPathogenicrs587776586GRCh37Chr 2, 223161776: 223161776
18PAX3PAX3, 5-BP DEL, EX5deletionPathogenic
19PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
20PAX3NM_181457.3(PAX3): c.139A> C (p.Asn47His)single nucleotide variantPathogenicrs104893653GRCh37Chr 2, 223161879: 223161879
21PAX3PAX3, 13-BP DEL, NT384deletionPathogenic
22PAX3NM_181457.3(PAX3): c.268T> C (p.Tyr90His)single nucleotide variantPathogenicrs104893654GRCh37Chr 2, 223161750: 223161750
23PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851
24SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenicGRCh37Chr 8, 49831366: 49833824

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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6KIT, MITF, SNAI2
29.6MITF, PAX3, SNAI2, SOX10
39.3KIT, MITF, PAX3, SOX10
4
Show member pathways
8.9EDNRB, KIT, MITF, TYR, TYRP1
58.9EDNRB, FN1, KIT, MITF, RET

GO Terms for genes affiliated with Waardenburg's Syndrome

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Cellular components related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:00331629.9TYR, TYRP1

Biological processes related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:000749710.7EDNRB, RET
2vein smooth muscle contractionGO:001482610.6EDN3, EDNRB
3vasoconstrictionGO:004231010.5EDN3, EDNRB
4lacrimal gland developmentGO:003280810.5PAX6, SOX10
5positive regulation of neuroblast proliferationGO:000205210.4PAX6, SOX10
6regulation of developmental pigmentationGO:004807010.3EDN3, KIT
7melanin biosynthetic processGO:004243810.3TYR, TYRP1
8response to painGO:004826510.3EDNRB, RET
9enteric nervous system developmentGO:004848410.3EDNRB, RET, SOX10
10developmental pigmentationGO:004806610.1EDNRB, KIT, PAX3
11neural crest cell migrationGO:00017559.7EDN3, EDNRB, PAX3, RET, SOX10
12sensory perception of soundGO:00076059.4GJB2, PAX3, SNAI2
13positive regulation of transcription, DNA-templatedGO:00458939.4MITF, PAX3, PAX6, RET, SOX10
14melanocyte differentiationGO:00303189.2EDN3, EDNRB, KIT, MITF, SOX10, TYRP1
15pigmentationGO:00434739.2EDNRB, KIT, MITF, SNAI2, TYR, TYRP1
16negative regulation of transcription from RNA polymerase II promoterGO:00001229.1EDNRB, MITF, PAX3, PAX6, SNAI2
17positive regulation of cell proliferationGO:00082849.1EDN3, EDNRB, FN1, KIT, PAX3
18positive regulation of gene expressionGO:00106288.6FN1, KIT, MITF, PAX6, RET

Molecular functions related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:007183710.3PAX3, PAX6
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.9MITF, PAX3, SNAI2, SOX10
3chromatin bindingGO:00036829.2MITF, PAX3, PAX6, SNAI2, SOX10

Sources for Waardenburg's Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet