MCID: STC001
MIFTS: 53

Stickler Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Stickler Syndrome

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Sources:
11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome:

Name: Stickler Syndrome 11 69 22 46 23 24 13 52 25 66
Arthro-Ophthalmopathy 22 23
Hereditary Progressive Arthroophthalmopathy 52
Hereditary Arthro-Ophthalmo-Dystrophy 24
 
Hereditary Arthro-Ophthalmopathy 24
Stickler Syndrome, Type 1 66
Stickler Dysplasia 24

Characteristics:

Orphanet epidemiological data:

52
stickler syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0080046
Orphanet52 ORPHA828
ICD10 via Orphanet29 Q87.5
MESH via Orphanet38 C537492
UMLS via Orphanet67 C0265253

Summaries for Stickler Syndrome

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NIH Rare Diseases:46 Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. the features vary widely among affected people. stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. both are caused by mutations in the col2a1 gene. stickler syndrome type ii, sometimes called the beaded vitreous type, is caused by mutations in the col11a1 gene. stickler syndrome type iii, sometimes called the nonocular form, is caused by mutations in the col11a2 gene. these forms of stickler syndrome are inherited in an autosomal dominant manner. stickler syndrome type iv is caused by mutations in the col9a1 gene, and stickler syndrome type v is caused by mutations in the col9a2 gene. these types of stickler syndrome are inherited in an autosomal recessive manner. last updated: 2/8/2012

MalaCards based summary: Stickler Syndrome, also known as arthro-ophthalmopathy, is related to stickler syndrome, type ii and marshall syndrome, and has symptoms including malar flattening, epicanthus and long philtrum. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Cell adhesion_ECM remodeling and Gastric cancer network 2. Affiliated tissues include eye, bone and skeletal muscle, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Genetics Home Reference:24 Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

Wikipedia:69 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

GeneReviews summary for NBK1302

Related Diseases for Stickler Syndrome

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Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type V Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iii Stickler Syndrome, Type Iv
Stickler Syndrome, Type I Col11a1-Related Stickler Syndrome
Col11a2-Related Stickler Syndrome Col2a1-Related Stickler Syndrome
Col9a1-Related Stickler Syndrome Col9a2-Related Stickler Syndrome
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii34.1COL11A1, COL2A1
2marshall syndrome30.9COL11A1, COL2A1
3weissenbacher-zweymuller syndrome30.2COL11A1, COL11A2, COL2A1
4stickler syndrome, type i12.3
5stickler syndrome, type iii12.3
6stickler syndrome, type v12.1
7stickler syndrome, type iv12.1
8autosomal recessive stickler syndrome12.0
9col11a1-related stickler syndrome11.9
10col11a2-related stickler syndrome11.9
11col2a1-associated stickler syndrome11.9
12col2a1-related stickler syndrome11.9
13col9a1-related stickler syndrome11.9
14col9a2-related stickler syndrome11.9
15stickler sydrome, type i, nonsyndromic ocular11.5
16cortical defects, wormian bones, and dentinogenesis imperfecta10.8
17deafness, autosomal dominant 1310.5COL11A2, COL2A1
18moyamoya disease10.5COL11A1, COL2A1
19bagassosis10.5COL11A1, COL11A2
20smed strudwick type10.4COL11A1, COL2A1
21acromesomelic dysplasia10.4COL11A1, COL2A1
22humeroradial synostosis10.4COL11A1, COL11A2
23vater/vacterl association10.4COL2A1, COL9A3
24stickler syndrome10.4COL2A1, COL9A2
25slc40a1-related hereditary hemochromatosis10.4COL11A1, COL2A1
26retinitis10.4
27familial erythema nodosum10.3COL2A1, VCAN
28retinal detachment10.3
29brachial plexus birth injuries10.2COL9A2, COL9A3
30achondrogenesis, type ii or hypochondrogenesis10.2COL11A1, COL2A1
31dental pulp disease10.2COL11A1, COL2A1
32myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.2COL11A1, COL11A2, COL2A1
33wallerian degeneration10.2COL11A1, COL2A1, COL9A2
34visual epilepsy10.1COL11A1, COL2A1, COL9A2
35alveolar soft-part sarcoma10.1COL11A2, COL2A1
36bone structure disease10.1COL9A2, COL9A3
37toenail dystrophy, isolated10.1COL2A1, VCAN
38ureteric orifice cancer10.1COL11A1, COL2A1, VCAN
39retinal dystrophy in systemic or cerebroretinal lipidoses10.1COL11A1, COL2A1, VCAN
40chromosomal disease10.0COL2A1, COL9A2, COL9A3
41osteoarthritis10.0
42intervertebral disc disease10.0COL11A1, COL9A2, COL9A3
43isolated congenital nasal pyriform aperture stenosis10.0COL9A1, COL9A2, COL9A3
44myasthenia, limb-girdle, with tubular aggregates10.0COL9A1, COL9A2, COL9A3
45osteonecrosis10.0COL9A1, COL9A2, COL9A3
46cataract9.9
47osteochondritis dissecans9.9
48laryngomalacia9.9COL11A1, COL11A2, COL2A1, COL9A1
49otospondylomegaepiphyseal dysplasia9.9
50ischemic bone disease9.8COL2A1, COL9A2

Graphical network of the top 20 diseases related to Stickler Syndrome:



Diseases related to stickler syndrome

Symptoms for Stickler Syndrome

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Symptoms:

 52 (show all 67)
  • macroglossia
  • glossoptosis
  • cleft palate
  • cleft upper lip
  • malar flattening
  • epicanthus
  • hypertelorism
  • hypoplasia of the maxilla
  • long philtrum
  • micrognathia
  • hearing impairment
  • chronic otitis media
  • sensorineural hearing impairment
  • depressed nasal ridge
  • anteverted nares
  • astigmatism
  • strabismus
  • glaucoma
  • visual impairment
  • telecanthus
  • cataract
  • proptosis
  • retinal detachment
  • myopia
  • uveitis
  • blindness
  • abnormality of dental enamel
  • pectus carinatum
  • platyspondyly
  • abnormal diaphysis morphology
  • ectopia lentis
  • arachnodactyly
  • muscular hypotonia
  • joint dislocation
  • disproportionate tall stature
  • slender build
  • mitral valve prolapse
  • gastroesophageal reflux
  • recurrent respiratory infections
  • scoliosis
  • skeletal dysplasia
  • bone pain
  • osteoarthritis
  • kyphosis
  • hip dislocation
  • arthralgia
  • genu valgum
  • protrusio acetabuli
  • short nose
  • skeletal muscle atrophy
  • abnormal form of the vertebral bodies
  • spinal canal stenosis
  • short stature
  • cachexia
  • abnormality of the vitreous humor
  • reduced bone mineral density
  • hemiplegia/hemiparesis
  • depressed nasal bridge
  • joint hyperflexibility
  • abnormality of epiphysis morphology
  • advanced eruption of teeth
  • feeding difficulties in infancy
  • reduced number of teeth
  • short hard palate
  • open bite
  • arrhythmia
  • midface retrusion

HPO human phenotypes related to Stickler Syndrome:

(show all 58)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 epicanthus hallmark (90%) HP:0000286
3 long philtrum hallmark (90%) HP:0000343
4 telecanthus hallmark (90%) HP:0000506
5 cataract hallmark (90%) HP:0000518
6 retinal detachment hallmark (90%) HP:0000541
7 myopia hallmark (90%) HP:0000545
8 skeletal dysplasia hallmark (90%) HP:0002652
9 arthralgia hallmark (90%) HP:0002829
10 short nose hallmark (90%) HP:0003196
11 abnormality of the vitreous humor hallmark (90%) HP:0004327
12 depressed nasal bridge hallmark (90%) HP:0005280
13 abnormality of epiphysis morphology hallmark (90%) HP:0005930
14 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
15 glossoptosis typical (50%) HP:0000162
16 cleft palate typical (50%) HP:0000175
17 cleft upper lip typical (50%) HP:0000204
18 micrognathia typical (50%) HP:0000347
19 otitis media typical (50%) HP:0000388
20 sensorineural hearing impairment typical (50%) HP:0000407
21 depressed nasal ridge typical (50%) HP:0000457
22 anteverted nares typical (50%) HP:0000463
23 astigmatism typical (50%) HP:0000483
24 proptosis typical (50%) HP:0000520
25 pectus carinatum typical (50%) HP:0000768
26 platyspondyly typical (50%) HP:0000926
27 arachnodactyly typical (50%) HP:0001166
28 muscular hypotonia typical (50%) HP:0001252
29 joint dislocation typical (50%) HP:0001373
30 joint hypermobility typical (50%) HP:0001382
31 disproportionate tall stature typical (50%) HP:0001519
32 abnormality of the mitral valve typical (50%) HP:0001633
33 recurrent respiratory infections typical (50%) HP:0002205
34 scoliosis typical (50%) HP:0002650
35 bone pain typical (50%) HP:0002653
36 osteoarthritis typical (50%) HP:0002758
37 kyphosis typical (50%) HP:0002808
38 genu valgum typical (50%) HP:0002857
39 arrhythmia typical (50%) HP:0011675
40 hypertelorism occasional (7.5%) HP:0000316
41 strabismus occasional (7.5%) HP:0000486
42 glaucoma occasional (7.5%) HP:0000501
43 visual impairment occasional (7.5%) HP:0000505
44 abnormality of dental enamel occasional (7.5%) HP:0000682
45 dental malocclusion occasional (7.5%) HP:0000689
46 ectopia lentis occasional (7.5%) HP:0001083
47 disproportionate tall stature occasional (7.5%) HP:0001519
48 protrusio acetabuli occasional (7.5%) HP:0003179
49 skeletal muscle atrophy occasional (7.5%) HP:0003202
50 spinal canal stenosis occasional (7.5%) HP:0003416
51 short stature occasional (7.5%) HP:0004322
52 decreased body weight occasional (7.5%) HP:0004325
53 reduced bone mineral density occasional (7.5%) HP:0004349
54 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
55 advanced eruption of teeth occasional (7.5%) HP:0006288
56 reduced number of teeth occasional (7.5%) HP:0009804
57 short hard palate occasional (7.5%) HP:0010290
58 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

UMLS symptoms related to Stickler Syndrome:


clubbing, inguinal pain, inguinal mass

Drugs & Therapeutics for Stickler Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis.RecruitingNCT02840721Phase 2
2Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
3Study of Heritable Connective Tissue DisordersCompletedNCT00001641
4Study of Skeletal Disorders and Short StatureCompletedNCT00001754
5Family Myopia StudyCompletedNCT00341549
6Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Stickler Syndrome

Genetic Tests for Stickler Syndrome

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Genetic tests related to Stickler Syndrome:

id Genetic test Affiliating Genes
1 Stickler Syndrome25 23 COL9A2

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

34
Eye, Bone, Skeletal muscle

Animal Models for Stickler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7COL11A1, COL11A2, COL2A1, LOXL3, LRP2
2MP:00053778.4COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, LRP2
3MP:00053888.4COL11A1, COL2A1, COL5A2, LOXL3, LRP2
4MP:00053918.1COL2A1, COL5A2, COL9A1, LOXL3, LRP2
5MP:00053717.9COL11A1, COL2A1, COL9A1, COL9A2, LRP2, VCAN
6MP:00053787.2COL11A1, COL11A2, COL2A1, COL5A2, LOXL3, LRP2
7MP:00053906.4COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Publications for Stickler Syndrome

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Articles related to Stickler Syndrome:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. (27081569)
2016
2
Stickler syndrome associated with epilepsy: report of three cases. (25809783)
2015
3
Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography. (26245341)
2015
4
Arthritis in Stickler syndrome: Inflammatory or degenerative? (26178174)
2015
5
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. (25663169)
2015
6
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
2014
7
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
8
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
9
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). (22796475)
2012
10
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
11
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. (21671392)
2011
12
Stickler syndrome: an underdiagnosed disease. Report of a family. (22003765)
2011
13
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
14
Adult presentation of Stickler syndrome type III. (20112039)
2010
15
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (20513134)
2010
16
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
17
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
18
To push? or not to push?: Second stage management in a patient with Stickler syndrome at risk of retinal detachment. (19280503)
2009
19
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. (17579881)
2007
20
Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome. (16234470)
2005
21
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. (15372529)
2004
22
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
2003
23
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. (12686304)
2003
24
Vitreous phenotype: genotype correlation in Stickler syndrome. (11954783)
2002
25
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. (12204008)
2002
26
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. (12150217)
2002
27
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. (11450497)
2001
28
The Stickler syndrome: case reports and literature review. (10970261)
2000
29
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. (10819645)
2000
30
Stickler syndrome. (12472425)
2000
31
Genetics and hearing loss: a review of Stickler syndrome. (9777489)
1998
32
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). (9805126)
1998
33
Prophylactic laser photocoagulation in Stickler syndrome. (9091366)
1996
34
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. (8737653)
1996
35
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. (8000751)
1994
36
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. (7833911)
1994
37
Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. (7867814)
1994
38
The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). (1404165)
1992
39
Procollagen II gene mutation in Stickler syndrome. (1444917)
1992
40
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. (1358786)
1992
41
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). (1677770)
1991
42
Intraarticular lipoma in Stickler syndrome. (2352904)
1990
43
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. (3222200)
1988
44
Otolaryngological manifestations of the Stickler syndrome. (3436724)
1987
45
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. (880775)
1977
46
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975
47
The Stickler syndrome (hereditary arthroophthalmopathy). (776247)
1975
48
Stickler syndrome. Report of a second Australian family. (1233443)
1975
49
The Stickler syndrome. (1201341)
1975
50
The Stickler syndrome. (4621768)
1972

Variations for Stickler Syndrome

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Clinvar genetic disease variations for Stickler Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.85+1G> Csingle nucleotide variantPathogenicrs727503882GRCh37Chr 12, 48398019: 48398019
2COL2A1NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs)deletionPathogenicrs398123628GRCh37Chr 12, 48383560: 48383560

Expression for genes affiliated with Stickler Syndrome

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Search GEO for disease gene expression data for Stickler Syndrome.

Pathways for genes affiliated with Stickler Syndrome

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Pathways related to Stickler Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7COL2A1, VCAN
29.5COL9A1, COL9A3
39.2COL9A1, COL9A2, COL9A3
4
Show member pathways
8.9COL2A1, COL9A1, COL9A2, COL9A3
58.9COL2A1, COL9A1, COL9A2, COL9A3
68.7COL9A1, COL9A2, COL9A3, VCAN
7
Show member pathways
7.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
87.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
9
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
10
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
11
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
12
Show member pathways
7.1COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
13
Show member pathways
6.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

GO Terms for genes affiliated with Stickler Syndrome

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Cellular components related to Stickler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type XI trimerGO:000559210.4COL11A1, COL11A2
2collagen type IX trimerGO:00055949.8COL9A1, COL9A2, COL9A3
3collagen trimerGO:00055819.4COL11A1, COL11A2, COL2A1, COL5A2
4extracellular matrixGO:00310128.9COL11A1, COL2A1, COL5A2, VCAN
5proteinaceous extracellular matrixGO:00055788.3COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
6endoplasmic reticulum lumenGO:00057887.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2
7extracellular regionGO:00055766.6COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Biological processes related to Stickler Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.4COL11A1, COL2A1
2cartilage condensationGO:000150210.2COL11A1, COL2A1
3tissue homeostasisGO:000189410.2COL11A2, COL2A1
4heart morphogenesisGO:000300710.1COL11A1, COL2A1
5skeletal system morphogenesisGO:00487059.9COL11A1, COL11A2, COL2A1
6inner ear morphogenesisGO:00424729.8COL11A1, COL2A1
7chondrocyte differentiationGO:00020629.8COL11A2, COL2A1, COL9A1
8cartilage developmentGO:00512169.7COL11A1, COL11A2, COL2A1
9sensory perception of soundGO:00076059.6COL11A1, COL11A2, COL2A1
10collagen catabolic processGO:00305749.2COL11A1, COL11A2, COL2A1, COL5A2
11collagen fibril organizationGO:00301998.9COL11A1, COL11A2, COL2A1, COL5A2
12ossificationGO:00015038.8COL11A1, COL11A2, COL2A1, COL5A2
13skeletal system developmentGO:00015018.2COL11A2, COL2A1, COL5A2, COL9A2, VCAN
14extracellular matrix organizationGO:00301987.1COL11A1, COL2A1, COL5A2, COL9A1, COL9A2, COL9A3

Molecular functions related to Stickler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.0COL11A1, COL5A2, VCAN
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.8COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Sources for Stickler Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet