MCID: STC001
MIFTS: 56

Stickler Syndrome

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

Aliases & Classifications for Stickler Syndrome

MalaCards integrated aliases for Stickler Syndrome:

Name: Stickler Syndrome 12 72 72 23 49 24 55 28 14 69
Hereditary Progressive Arthroophthalmopathy 55
Hereditary Arthro-Ophthalmo-Dystrophy 24
Hereditary Arthro-Ophthalmopathy 24
Stickler Syndrome, Type 1 69
Arthroophthalmopathy 23
Stickler Dysplasia 24

Characteristics:

Orphanet epidemiological data:

55
stickler syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

23
Penetrance Penetrance is complete...

Classifications:



Summaries for Stickler Syndrome

NIH Rare Diseases : 49 Stickler syndromeis 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 hereditary progressive arthroophthalmopathy, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and otospondylomegaepiphyseal dysplasia, autosomal dominant, and has symptoms including macroglossia, glossoptosis and cleft palate. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye, bone and skeletal muscle, and related phenotypes are Increased gamma-H2AX phosphorylation and craniofacial

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.

GeneReviews: NBK1302

Related Diseases for Stickler Syndrome

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type V
Stickler Syndrome, Type 3 Autosomal Recessive Stickler Syndrome

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.3 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.3 COL11A2 COL2A1
3 marshall syndrome 31.7 COL11A1 COL2A1
4 otospondylomegaepiphyseal dysplasia 31.2 COL11A1 COL11A2 COL2A1
5 autosomal recessive stickler syndrome 31.2 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
6 retinal detachment 30.3 COL11A1 COL2A1
7 cleft palate, isolated 29.8 COL11A1 COL11A2 COL2A1
8 osteoarthritis 29.7 COL11A2 COL2A1 COL9A1
9 vitreoretinal degeneration 29.1 COL11A1 COL2A1 COL9A2
10 osteochondritis dissecans 29.1 COL9A1 COL9A2 COL9A3
11 myopia 27.3 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 LOXL3
12 stickler syndrome, type i 12.6
13 stickler syndrome, type ii 12.6
14 stickler syndrome, type 3 12.3
15 stickler syndrome, type i, nonsyndromic ocular 12.3
16 stickler syndrome, type iv 12.2
17 stickler syndrome, type v 12.2
18 cortical defects, wormian bones, and dentinogenesis imperfecta 10.9
19 retinitis 10.3
20 retinal perforation 10.2 COL11A1 COL2A1
21 vitreous syneresis 10.2 COL11A1 COL2A1
22 blood group, i system 10.2
23 vitreoretinal dystrophy 10.2 COL11A1 COL2A1
24 achondrogenesis, type ii 10.2 COL11A1 COL2A1
25 scheuermann disease 10.2 COL2A1 COL9A3
26 hypochondrogenesis 10.2 COL11A1 COL2A1
27 kniest dysplasia 10.2 COL11A1 COL2A1
28 fibrochondrogenesis 10.1 COL11A1 COL11A2
29 spondyloepiphyseal dysplasia congenita 10.1 COL11A1 COL2A1
30 campomelic dysplasia 10.1 COL11A2 COL2A1
31 skeletal dysplasias 10.0 COL11A2 COL2A1
32 pierre robin syndrome 10.0
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
34 bone structure disease 10.0 COL2A1 COL9A3
35 osteoarthritis with mild chondrodysplasia 10.0
36 macroglossia 9.9 COL11A1 COL2A1 COL9A1
37 achondrogenesis 9.9 COL2A1 COL9A2
38 orthostatic intolerance 9.9
39 cataract 9.9
40 back pain 9.8 COL9A2 COL9A3
41 lipomatosis, multiple 9.7
42 osteoporosis 9.7
43 protrusio acetabuli 9.7
44 uvula, bifid 9.7
45 craniosynostosis with fibular aplasia 9.7
46 johanson-blizzard syndrome 9.7
47 coffin-lowry syndrome 9.7
48 retinoschisis 1, x-linked, juvenile 9.7
49 aging 9.7
50 bone mineral density quantitative trait locus 8 9.7

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



Diseases related to Stickler Syndrome

Symptoms & Phenotypes for Stickler Syndrome

Human phenotypes related to Stickler Syndrome:

55 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
2 glossoptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000162
3 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
4 cleft upper lip 55 31 frequent (33%) Frequent (79-30%) HP:0000204
5 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
6 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
8 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
9 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
10 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
11 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
12 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
13 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
14 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
15 astigmatism 55 31 frequent (33%) Frequent (79-30%) HP:0000483
16 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
18 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
19 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
20 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
21 retinal detachment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000541
22 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
23 uveitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000554
24 blindness 55 31 occasional (7.5%) Occasional (29-5%) HP:0000618
25 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
26 pectus carinatum 55 31 frequent (33%) Frequent (79-30%) HP:0000768
27 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
28 ectopia lentis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001083
29 arachnodactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001166
30 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
31 disproportionate tall stature 55 31 frequent (33%) Frequent (79-30%) HP:0001519
32 slender build 55 31 occasional (7.5%) Occasional (29-5%) HP:0001533
33 mitral valve prolapse 55 31 frequent (33%) Frequent (79-30%) HP:0001634
34 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
35 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
36 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
37 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
38 bone pain 55 31 frequent (33%) Frequent (79-30%) HP:0002653
39 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
40 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
41 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
42 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
43 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
44 protrusio acetabuli 55 31 occasional (7.5%) Occasional (29-5%) HP:0003179
45 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
46 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
47 spinal canal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003416
48 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
49 cachexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004326
50 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349

GenomeRNAi Phenotypes related to Stickler Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3

MGI Mouse Phenotypes related to Stickler Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 COL11A1 COL11A2 COL2A1 LOXL3
2 hearing/vestibular/ear MP:0005377 9.55 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
3 limbs/digits/tail MP:0005371 9.26 COL11A1 COL2A1 COL9A1 COL9A2
4 skeleton MP:0005390 9.1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 LOXL3

Drugs & Therapeutics for Stickler Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis. Recruiting NCT02840721 Phase 2 PF-06480605
2 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
3 Study of Heritable Connective Tissue Disorders Completed NCT00001641
4 Study of Skeletal Disorders and Short Stature Completed NCT00001754
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Stickler Syndrome

Genetic Tests for Stickler Syndrome

Genetic tests related to Stickler Syndrome:

# Genetic test Affiliating Genes
1 Stickler Syndrome 28

Anatomical Context for Stickler Syndrome

MalaCards organs/tissues related to Stickler Syndrome:

38
Eye, Bone, Skeletal Muscle

Publications for Stickler Syndrome

Articles related to Stickler Syndrome:

(show top 50) (show all 178)
# Title Authors Year
1
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. ( 28971234 )
2018
2
Novel and recurrent<i>COL11A1</i>and<i>COL2A1</i>mutations in the Marshall-Stickler syndrome spectrum. ( 28983407 )
2017
3
Foveal Hypoplasia in Patients with Stickler Syndrome. ( 28283280 )
2017
4
Osteoporosis in Stickler syndrome. A new family case with bone histology study. ( 28159459 )
2017
5
Type I membranous anomaly in Stickler syndrome. ( 28557656 )
2017
6
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. ( 28095098 )
2017
7
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. ( 28315471 )
2017
8
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. ( 28841907 )
2017
9
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. ( 28060400 )
2017
10
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. ( 27193475 )
2016
11
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. ( 27081569 )
2016
12
Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. ( 27574392 )
2016
13
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. ( 26709265 )
2016
14
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. ( 27408751 )
2016
15
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. ( 28018693 )
2016
16
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. ( 26786361 )
2016
17
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. ( 27390512 )
2016
18
Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. ( 26730175 )
2016
19
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. ( 25663169 )
2015
20
Stickler syndrome. ( 26458481 )
2015
21
A 360A^ giant retinal tear in Stickler syndrome. ( 25569319 )
2015
22
Stickler syndrome associated with epilepsy: report of three cases. ( 25809783 )
2015
23
Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome. ( 26540157 )
2015
24
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome. ( 27081549 )
2015
25
Stickler syndrome. Epidemiology of retinal detachment. ( 25817961 )
2015
26
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients. ( 25780254 )
2015
27
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
28
Arthritis in Stickler syndrome: Inflammatory or degenerative? ( 26178174 )
2015
29
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. ( 25240749 )
2014
30
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. ( 24164106 )
2014
31
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. ( 24793526 )
2014
32
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome. ( 25598853 )
2014
33
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. ( 24273071 )
2014
34
Radiographic and tomographic analysis in patients with stickler syndrome type I. ( 23935403 )
2013
35
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. ( 23918474 )
2013
36
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). ( 23621912 )
2013
37
Stickler syndrome associated with congenital glaucoma. ( 23374481 )
2013
38
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. ( 23992033 )
2013
39
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. ( 23771187 )
2013
40
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. ( 23922384 )
2013
41
Mosaicism in Stickler syndrome. ( 22522174 )
2012
42
Hearing impairment in Stickler syndrome: a systematic review. ( 23110709 )
2012
43
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). ( 22796475 )
2012
44
Importance of early diagnosis of Stickler syndrome in newborns. ( 22424767 )
2012
45
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. ( 20462780 )
2011
46
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. ( 21421862 )
2011
47
Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells. ( 21186996 )
2011
48
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. ( 21777803 )
2011
49
Stickler syndrome: an underdiagnosed disease. Report of a family. ( 22003765 )
2011
50
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ( 21671392 )
2011

Variations for Stickler Syndrome

ClinVar genetic disease variations for Stickler Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3357_3358insCT (p.Glu1120Leufs) insertion Pathogenic rs672601354 GRCh37 Chromosome 12, 48370672: 48370673
2 COL2A1 NM_001844.4(COL2A1): c.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly) duplication Pathogenic rs672601355 GRCh37 Chromosome 12, 48381416: 48381424

Expression for Stickler Syndrome

Search GEO for disease gene expression data for Stickler Syndrome.

Pathways for Stickler Syndrome

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2
Show member pathways
13.02 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.74 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.63 COL2A1 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.57 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
6
Show member pathways
12.22 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
7
Show member pathways
11.91 COL2A1 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.82 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
9
Show member pathways
11.74 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
10 11.54 COL11A2 COL2A1
11 11.41 COL9A1 COL9A2 COL9A3
12 11.2 COL9A1 COL9A2 COL9A3
13 11.04 COL9A1 COL9A3
14 10.64 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

GO Terms for Stickler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 proteinaceous extracellular matrix GO:0005578 9.63 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
3 collagen type IX trimer GO:0005594 9.43 COL9A1 COL9A2 COL9A3
4 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
5 collagen type XI trimer GO:0005592 9.37 COL11A1 COL11A2
6 collagen trimer GO:0005581 9.1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.63 COL11A2 COL2A1 COL9A2
2 sensory perception of sound GO:0007605 9.61 COL11A1 COL11A2 COL2A1
3 ossification GO:0001503 9.55 COL11A1 COL2A1
4 inner ear morphogenesis GO:0042472 9.54 COL11A1 COL2A1
5 palate development GO:0060021 9.54 COL11A2 COL2A1 LOXL3
6 heart morphogenesis GO:0003007 9.52 COL11A1 COL2A1
7 chondrocyte differentiation GO:0002062 9.51 COL11A2 COL2A1
8 cartilage development GO:0051216 9.5 COL11A1 COL11A2 COL2A1
9 cartilage condensation GO:0001502 9.49 COL11A1 COL2A1
10 tissue homeostasis GO:0001894 9.48 COL11A2 COL2A1
11 collagen catabolic process GO:0030574 9.43 COL11A1 COL11A2 COL2A1
12 proteoglycan metabolic process GO:0006029 9.4 COL11A1 COL2A1
13 skeletal system morphogenesis GO:0048705 9.33 COL11A1 COL11A2 COL2A1
14 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
15 extracellular matrix organization GO:0030198 9.02 COL11A1 COL2A1 COL9A1 COL9A2 COL9A3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A1 COL11A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL11A1 COL11A2 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

Sources for Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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