MCID: STC001
MIFTS: 55

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:
10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 35MedlinePlus, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome:

Name: Stickler Syndrome 10 68 21 45 22 23 12 51 24 65
Cleft Lip and Palate 68 24 35
Hereditary Arthro-Ophthalmopathy 68 23
Arthro-Ophthalmopathy 21 22
 
Hereditary Progressive Arthroophthalmopathy 51
Hereditary Arthro-Ophthalmo-Dystrophy 23
Stickler Syndrome, Type 1 65
Stickler Dysplasia 23

Characteristics:

Orphanet epidemiological data:

51
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 Ontology10 DOID:0080046
Orphanet51 828
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C537492
UMLS via Orphanet66 C0265253
UMLS65 C0265253, C2020284

Summaries for Stickler Syndrome

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MedlinePlus:35 Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. they happen early during pregnancy. a baby can have a cleft lip, a cleft palate, or both. a cleft lip happens if the tissue that makes up the lip does not join completely before birth. this causes an opening in the upper lip. the opening can be a small slit or a large opening that goes through the lip into the nose. it can be on one or both sides of the lip or, rarely, in the middle of the lip. children with a cleft lip also can have a cleft palate. the roof of the mouth is called the "palate." with a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. babies may have both the front and back parts of the palate open, or they may have only one part open. children with a cleft lip or a cleft palate often have problems with feeding and talking. they also might have ear infections, hearing loss, and problems with their teeth. often, surgery can close the lip and palate. cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. many children have other complications. they may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. with treatment, most children with clefts do well and lead a healthy life. centers for disease control and prevention

MalaCards based summary: Stickler Syndrome, also known as cleft lip and palate, 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), and among its related pathways are Cell adhesion_ECM remodeling and Gastric cancer network 2. Affiliated tissues include eye, bone and endothelial, and related mouse phenotypes are craniofacial and respiratory system.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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:68 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 196)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii34.4COL11A1, COL2A1
2marshall syndrome31.2COL11A1, COL2A1
3weissenbacher-zweymuller syndrome30.7COL11A1, COL11A2, COL2A1
4stickler syndrome, type i12.6
5stickler syndrome, type iii12.6
6cleft lip and palate malrotation cardiopathy12.6
7uveal coloboma-cleft lip and palate-intellectual disability12.6
8stickler syndrome, type v12.5
9stickler syndrome, type iv12.5
10col11a2-related stickler syndrome12.4
11col11a1-related stickler syndrome12.3
12col2a1-associated stickler syndrome12.3
13col2a1-related stickler syndrome12.3
14col9a1-related stickler syndrome12.3
15col9a2-related stickler syndrome12.3
16stickler syndrome col2a112.2
17autosomal recessive stickler syndrome12.2
18stickler sydrome, type i, nonsyndromic ocular11.9
19pilotto syndrome11.9
20hay-wells syndrome11.5
21baraitser rodeck garner syndrome11.5
22ectropion inferior cleft lip and or palate11.5
23holzgreve syndrome11.5
24kuster syndrome11.5
25samson viljoen syndrome11.5
26zlotogora syndrome11.5
27blepharo-cheilo-odontic syndrome11.5
28skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta11.2
29spastic cerebral palsy11.0
30arthritis10.3
31deafness, autosomal dominant 1310.3COL11A2, COL2A1
32otospondylomegaepiphyseal dysplasia10.3
33trichuriasis10.3COL11A1, COL2A1
34smed strudwick type10.3COL11A1, COL2A1
35systemic lupus erythematosus10.3
36gastric cancer10.3
37cervicitis10.3
38adenoma10.3
39lupus erythematosus10.3
40endotheliitis10.3
41stickler syndrome10.3COL11A1, COL2A1
42diphtheritic cystitis10.2COL2A1, COL9A3
43hypochondrogenesis10.2COL2A1, COL9A2
44walbaum titran durieux crepin syndrome10.2COL2A1, VCAN
45achondrogenesis, type ii or hypochondrogenesis10.2COL11A1, COL2A1
46pheochromocytoma10.2
47breast cancer10.2
48crohn's disease10.2
49hepatitis10.2
50lymphoma10.2

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:

 51 (show all 67)
  • depressed premaxillary region/midface
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • cataract/lens opacification
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • retinal detachment
  • myopia
  • epicanthic folds
  • telecanthus/canthal dystopy
  • short/small nose
  • depressed nasal bridge
  • long philtrum
  • abnormal vertebral size/shape
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • epiphyseal anomaly
  • articular/joint pain/arthralgia
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • astigmatism
  • flattened nose
  • anteverted nares/nostrils
  • cleft lip
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • glossoptosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • chronic/relapsing otitis
  • pectus carinatum
  • kyphosis
  • scoliosis
  • platyspondyly
  • long hand/arachnodactyly
  • genu valgum
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • repeat respiratory infections
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • cardiac rhythm disorder/arrhythmia
  • hypotonia
  • bone pain
  • osteoarthritis
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • marfanoid morphotype
  • hypertelorism
  • dental malocclusion
  • glaucoma
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • lens dislocation/luxation/subluxation/ectopia lentis
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • short palate
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • premature eruption of teeth/natal teeth
  • rachidian/spine canal stenosis
  • coxa profunda/acetabular protrusion
  • long limbs/dolichostenomelia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • diaphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

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

Drugs & Therapeutics for Stickler Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
2Study of Heritable Connective Tissue DisordersCompletedNCT00001641
3Study of Skeletal Disorders and Short StatureCompletedNCT00001754
4Family Myopia StudyCompletedNCT00341549
5Rare Disease Patient Registry: 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 Syndrome22 COL9A2

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

33
Eye, Bone, Endothelial, Tongue, Skeletal muscle, Kidney, Liver

Animal Models for Stickler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5COL11A1, COL11A2, COL2A1, LOXL3, LRP2
2MP:00053888.4COL11A1, COL2A1, COL5A2, LOXL3, LRP2
3MP:00053918.3COL2A1, COL5A2, COL9A1, LOXL3, LRP2
4MP:00053718.2COL11A1, COL2A1, COL9A1, COL9A2, LRP2, VCAN
5MP:00053778.2COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, LRP2
6MP:00053787.3COL11A1, 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 159)
idTitleAuthorsYear
1
Catechol-O-methyltransferase polymorphism influences outcome after ischemic stroke: a prospective double-blind study. (23549522)
2013
2
Germline PTPRD mutations in Ewing sarcoma: biologic and clinical implications. (23800680)
2013
3
Evaluation of a minimally aggressive method of patellofemoral osteoarthritis treatment at 10 years minimum follow-up. (24035248)
2013
4
Hemophilia and prophylaxis. (23109472)
2013
5
Potential effects of Rift Valley fever in the United States. (21801607)
2011
6
Oral histoplasmosis of a healthy man in a non-endemic area. (21735110)
2011
7
Compartment syndrome of the upper extremity. (21371631)
2011
8
No evidence of an association between A218C polymorphism of the tryptophan hydroxylase 1 gene and aggression in schizophrenia in a Korean population. (20046510)
2010
9
TRIF mediates Toll-like receptor 5-induced signaling in intestinal epithelial cells. (20855887)
2010
10
Brucellosis - regionally emerging zoonotic disease? (20718081)
2010
11
Aberrant course of the umbilical vein in a newborn with Cornelia de Lange syndrome. (19238371)
2009
12
Morbidity and mortality caused by cardiac adverse events after revascularization for critical limb ischemia. (19747609)
2009
13
A case of ovarian cancer associated with hypercalcemia. (18845526)
2008
14
Rac regulates the interaction of fascin with protein kinase C in cell migration. (18716283)
2008
15
Radiosensitization of human vascular endothelial cells through Hsp90 inhibition with 17-N-allilamino-17-demethoxygeldanamycin. (18410996)
2008
16
Vision improvement in retinal degeneration patients by implantation of retina together with retinal pigment epithelium. (18547537)
2008
17
Role of CHK2 in cancer development. (18796370)
2008
18
Prevention of perioperative cardiac complications in non-cardiac surgery: an evidence-based guideline]. (19102436)
2008
19
Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman-Diamond syndrome. (17211437)
2007
20
Spindle cell (sarcomatoid) carcinoma of the breast: a clinicopathologic and immunohistochemical analysis of 29 cases. (16538049)
2006
21
Assessment of the performance of a definition of a suspected measles case: implications for measles surveillance. (16723063)
2006
22
Urological anomalies in children with renal agenesis or multicystic dysplastic kidney. (16682760)
2006
23
Human Mediator enhances basal transcription by facilitating recruitment of transcription factor IIB during preinitiation complex assembly. (16595664)
2006
24
Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. (16153895)
2006
25
Calcineurin is expressed and plays a critical role in inflammatory arthritis. (16888030)
2006
26
Inflammatory cytokine and thrombin regulation of interleukin-8 and intercellular adhesion molecule-1 expression in first trimester human decidua. (15914533)
2005
27
Heme oxygenase-1 levels and oxidative stress-related parameters in non-alcoholic fatty liver disease patients. (15763346)
2005
28
Primary cell cultures arising from normal kidney and renal cell carcinoma retain the proteomic profile of corresponding tissues. (16212400)
2005
29
Ki-67 expression in patients with uterine leiomyomas, uterine smooth muscle tumors of uncertain malignant potential (STUMP) and uterine leiomyosarcomas (LMS). (15488127)
2004
30
GSK-3beta in cerebrospinal fluid of schizophrenia patients. (15254796)
2004
31
Distribution of high affinity choline transporter immunoreactivity in the primate central nervous system. (12820166)
2003
32
Lymphagenesis correlates with expression of vascular endothelial growth factor-C in colorectal cancer. (12792749)
2003
33
Acute phase serum amyloid A, cholesterol metabolism, and cardiovascular disease. (12056504)
2002
34
Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome. (12224070)
2002
35
Pulmonary sequestration. (11949021)
2000
36
The structural unit of the secretory Na+-K+-2Cl- cotransporter (NKCC1) is a homodimer. (10736171)
2000
37
Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice. (10607835)
2000
38
Human lipoprotein lipase HindIII polymorphism in young patients with myocardial infarction. (10484057)
1999
39
Obesity as a protective factor for postmenopausal osteoporosis. (8923160)
1996
40
Stress-like adrenocorticotropin responses to caffeine in young healthy men. (8951977)
1996
41
Epidemiological study of an outbreak due to multidrug-resistant Enterobacter aerogenes in a medical intensive care unit. (8862578)
1996
42
High blood pressure and cardiovascular risk factors in an adult population of Mexico City. Characteristics of the studied population. (8696067)
1996
43
The Grb2 adaptor. (7641883)
1995
44
An evaluation of insulin-like growth factor-1 as an indicator of nutritional status. (16843904)
1995
45
Successful bone marrow transplantation for idiopathic hypereosinophilic syndrome. (7786788)
1995
46
High-density lipoproteins can act as carriers of glycophosphoinositol lipid-anchored CD59 in human plasma. (7519171)
1994
47
The pleckstrin homology domain of RAC protein kinase associates with the regulatory domain of protein kinase C zeta. (7811263)
1994
48
Lichen nitidus confined to the face. (14770496)
1950
49
50

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 trimerGO:00055819.8COL11A1, COL11A2
2collagen type IX trimerGO:00055949.1COL9A1, COL9A2, COL9A3

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.4COL11A1, COL2A1
2cartilage condensationGO:000150210.4COL11A1, COL2A1
3tissue homeostasisGO:000189410.3COL11A2, COL2A1
4skeletal system developmentGO:000150110.2COL2A1, COL9A2
5cartilage developmentGO:005121610.1COL11A1, COL2A1
6chondrocyte differentiationGO:00020629.8COL11A2, COL2A1, COL9A1
7palate developmentGO:00600219.8COL11A2, COL2A1
8extracellular matrix organizationGO:00301989.5COL11A1, COL11A2, COL2A1
9collagen fibril organizationGO:00301999.4COL11A1, COL11A2, COL2A1, COL5A2
10sensory perception of soundGO:00076059.2COL11A1, COL11A2, COL2A1
11collagen catabolic processGO:00305748.4COL11A1, COL2A1, COL5A2, COL9A1, COL9A3
12extracellular matrix disassemblyGO:00226177.5COL11A1, COL11A2, COL2A1, COL5A2, COL9A1, COL9A2

Sources for Stickler 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