MCID: PRR016
MIFTS: 50

Pierre Robin Syndrome malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Pierre Robin Syndrome

Aliases & Descriptions for Pierre Robin Syndrome:

Name: Pierre Robin Syndrome 54 13
Pierre Robin Sequence 50 29 52
Glossoptosis, Micrognathia, and Cleft Palate 50
Isolated Pierre Robin Sequence 56
Isolated Pierre Robin Syndrome 56
Pierre-Robin Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
isolated pierre robin syndrome
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Netherlands); Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
pierre robin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 261800
Orphanet 56 ORPHA718
ICD10 via Orphanet 34 Q87.0

Summaries for Pierre Robin Syndrome

NIH Rare Diseases : 50 pierre robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate). this combination of features can lead to difficulty breathing and problems with eating early in life. pierre robin sequence may occur alone (isolated) or be associated with a variety of other signs and symptoms (described as syndromic). in about 20 to 40 percent of cases, the condition occurs alone. the exact causes of pierre robin syndrome are unknown. changes (mutations) in the dna near the sox9 gene are the most common genetic cause of isolated cases of pierre robin sequence. treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.    last updated: 5/16/2016

MalaCards based summary : Pierre Robin Syndrome, also known as pierre robin sequence, is related to pierre robin syndrome and oligodactyly and pierre robin syndrome skeletal dysplasia polydactyly, and has symptoms including glossoptosis, cleft palate and micrognathia. An important gene associated with Pierre Robin Syndrome is SOX9 (SRY-Box 9), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

OMIM : 54 Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and... (261800) more...

Wikipedia : 71 Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin sequence, Pierre Robin... more...

Related Diseases for Pierre Robin Syndrome

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 pierre robin syndrome and oligodactyly 12.0
2 pierre robin syndrome skeletal dysplasia polydactyly 12.0
3 contractures-developmental delay-pierre robin syndrome 12.0
4 catel-manzke syndrome 11.5
5 weissenbacher-zweymuller syndrome 11.4
6 tarp syndrome 11.3
7 isolated pierre robin sequence 11.1
8 stickler syndrome, type iii 11.0
9 pierre robin sequence with facial and digital anomalies 11.0
10 robin sequence with distinctive facial appearance and brachydactyly 11.0
11 robin sequence with cleft mandible and limb anomalies 11.0
12 chitayat meunier hodgkinson syndrome 11.0
13 diamond-blackfan anemia 12 11.0
14 hypoglossia-hypodactylia 11.0
15 diamond-blackfan anemia 5 11.0
16 diamond-blackfan anemia 9 11.0
17 diamond-blackfan anemia 3 11.0
18 diamond-blackfan anemia 10 11.0
19 diamond-blackfan anemia 13 11.0
20 diamond-blackfan anemia 4 11.0
21 diamond-blackfan anemia 11 11.0
22 diamond-blackfan anemia 7 11.0
23 diamond blackfan anemia 15 with mandibulofacial dysostosis 11.0
24 diamond-blackfan anemia 6 11.0
25 diamond-blackfan anemia 1 11.0
26 diamond-blackfan anemia 8 11.0
27 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.0
28 laryngitis 10.2
29 deafness, autosomal recessive 32 10.0 RPL5 RPS19
30 nasopharyngeal teratoma 9.9
31 hepatitis 9.9
32 congenital hypothyroidism 9.9
33 stickler syndrome 9.9
34 nasopharyngitis 9.9
35 hypothyroidism 9.9
36 dysostosis 9.9
37 astrocytoma 9.9
38 teratoma 9.9
39 cleft lip 9.9
40 caudal regression syndrome 9.9
41 congenital hepatic fibrosis 9.9
42 mental retardation, autosomal dominant 16 9.9 RPS26 RPS28 TSR2
43 glanders 9.3 RPL11 RPL35A RPL5 RPS17 RPS19
44 west nile fever 8.4 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
45 drug-induced hepatitis 8.3 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
46 delayed sleep phase syndrome 7.9 PRBNS RBM10 RPL11 RPL15 RPL26 RPL35A

Graphical network of the top 20 diseases related to Pierre Robin Syndrome:



Diseases related to Pierre Robin Syndrome

Symptoms & Phenotypes for Pierre Robin Syndrome

Symptoms by clinical synopsis from OMIM:

261800

Clinical features from OMIM:

261800

Human phenotypes related to Pierre Robin Syndrome:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossoptosis 56 32 Very frequent (99-80%) HP:0000162
2 cleft palate 56 32 Very frequent (99-80%) HP:0000175
3 micrognathia 56 32 Very frequent (99-80%) HP:0000347
4 abnormality of the pharynx 56 32 Frequent (79-30%) HP:0000600
5 neonatal respiratory distress 56 32 Frequent (79-30%) HP:0002643
6 upper airway obstruction 56 32 Frequent (79-30%) HP:0002781
7 feeding difficulties in infancy 32 HP:0008872
8 pierre-robin sequence 32 HP:0000201
9 cor pulmonale 32 HP:0001648

GenomeRNAi Phenotypes related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.55 RPS19
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.55 RPS29
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.55 RPS17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.55 RPS19 RPS29 RPS17
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.55 RPS29
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.55 RPS17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.55 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.55 RPS17 RPS19 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.55 RPS19
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.55 RPS19
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.55 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.55 RPS19 RPS17
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.55 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.55 RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.55 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.55 RPS17
17 Decreased viability GR00106-A-0 10.44 RPS19 RPL5 RPS17 RPS29 RPS7
18 Decreased viability GR00240-S-1 10.44 RPS28 RPL15
19 Decreased viability GR00381-A-1 10.44 RPS24 RPS26 RPS28 RBM10 RPL11 RPL15
20 FOXO1 nuclear localization GR00247-A-1 10.38 RPL11 RPL15 RPS24 RPS7
21 FOXO1 nuclear localization GR00247-A-2 10.38 RPL11 RPL15 RPS24 RPS7
22 Decreased NF-kappaB reporter expression GR00312-A 10.35 RBM10 RPL11 RPL15 RPL26 RPL35A RPL5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.3 RPS29
24 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.3 RPS29
25 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.3 RPS29
26 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.3 RPS19
27 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.3 SOX9
28 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.3 RPS19
29 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.3 RPS29 SOX9 RPS19
30 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.3 RPS29
31 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.3 SOX9 RPS29
32 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.3 SOX9
33 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.3 RPS29
34 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.3 SOX9
35 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.3 SOX9
36 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.3 RPS29
37 Increased G1 DNA content GR00098-A-1 10.18 RPL11 RPL15 RPL26 RPL35A RPL5 RPS17
38 Increased viability GR00386-A-1 10.13 RBM10 RPL11 RPL15 RPL26 RPL35A RPL5
39 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS17
40 Decreased Hepatitis C virus replication GR00180-A-1 10.02 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7
41 G0/1 arrest GR00098-A-2 10 RPS7 RPL11 RPL35A RPS19 RPS24 RPS26
42 Decreased cell number GR00303-A 9.86 RPL11 RPL5 RPS19 RPS29
43 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.8 RPL11 RPL15 RPL35A RPS17 RPS19 RPS26
44 HIV Rev nuclear localization GR00247-A-3 9.73 RPL11 RPL15 RPS24 RPS7
45 Nuclear 40S maturation defects GR00209-A-2 9.63 RPS26 RPS28 RPS29 RPL11 RPS10 RPS17
46 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.36 RPL11 RPL26 RPL35A RPL5 RPS10 RPS17
47 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL26 RPL35A RPL5

Drugs & Therapeutics for Pierre Robin Syndrome

Drugs for Pierre Robin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
3
Busulfan Approved, Investigational Phase 3 55-98-1 2478
4 Alkylating Agents Phase 3
5 Vidarabine Phosphate Phase 3
6 Immunosuppressive Agents Phase 3
7 Antirheumatic Agents Phase 3
8 Antineoplastic Agents, Alkylating Phase 3
9
Cobalt Phase 1 7440-48-4 104729
10
Aspirin Approved, Vet_approved 50-78-2 2244
11 threonine Nutraceutical

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Dose-reduced Versus Standard Conditioning in MDS/sAML Terminated NCT01203228 Phase 3
2 Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Myelodysplastic Syndrome Low Risk Not yet recruiting NCT02757989 Phase 2
3 A Comparison Between Two Video Laryngoscopes,in Successfully Intubating Pediatric Mannequins w/wo Difficult Airways Completed NCT02198742 Phase 1
4 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
5 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
6 Functional Modeling of the Pediatric Airway Completed NCT01690078
7 Pierre Robin Sequence Outcome Assessment Multi Institutional Study Recruiting NCT02432638
8 LEADERS FREE II: BioFreedom™ Pivotal Study Recruiting NCT02843633
9 Safety and Efficacy Study of the Draeger Babylog VN500 Device in HFOV Mode in VLBW Neonates Recruiting NCT02445040
10 Early Treatment Outcomes in Pierre-Robin-Like Phenotype Active, not recruiting NCT02266043
11 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843

Search NIH Clinical Center for Pierre Robin Syndrome

Genetic Tests for Pierre Robin Syndrome

Genetic tests related to Pierre Robin Syndrome:

id Genetic test Affiliating Genes
1 Pierre-Robin Sequence 29

Anatomical Context for Pierre Robin Syndrome

MalaCards organs/tissues related to Pierre Robin Syndrome:

39
Tongue, Eye, Heart, Bone

Publications for Pierre Robin Syndrome

Articles related to Pierre Robin Syndrome:

(show all 30)
id Title Authors Year
1
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
2
Our Experience With Regional Anesthesia in a Case of Pierre Robin Syndrome. ( 27110537 )
2016
3
Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome. ( 25376137 )
2014
4
Combined use of a McGrathAr MAC video laryngoscope and Frova Intubating Introducer in a patient with Pierre Robin syndrome: a case report. ( 24851168 )
2014
5
Usefulness of a CookAr airway exchange catheter in laryngeal mask airway-guided fiberoptic intubation in a neonate with Pierre Robin syndrome -A case report-. ( 23458916 )
2013
6
Role of SOX9 in the Etiology of Pierre-Robin Syndrome. ( 23826492 )
2013
7
Percutaneous dilational tracheotomy for airway management in a newborn with Pierre-Robin syndrome and a glossopharyngeal web. ( 22005668 )
2012
8
Prone insertion of a size 0.5 intubating laryngeal airway overcomes severe upper airway obstruction in an awake neonate with Pierre Robin syndrome. ( 22843290 )
2012
9
The use of laryngeal mask airway for surgical tracheotomy in a neonate with Pierre Robin syndrome: a case report. ( 20927657 )
2011
10
Mandibular distraction using bone morphogenic protein and rapid distraction in neonates with Pierre Robin syndrome. ( 20613593 )
2010
11
Retrograde nasal intubation technique in Pierre Robin Syndrome: a suggestion. ( 20470321 )
2010
12
Capnography-guided awake nasal intubation in a 4-month infant with Pierre Robin syndrome. ( 20885879 )
2010
13
Glossopharyngeal nerve blocks for awake laryngeal mask airway insertion in an infant with Pierre-Robin syndrome: can a glidescope come to the rescue? ( 19207917 )
2009
14
Utility of LMA for emergency tracheostomy in an infant with pierre Robin syndrome. ( 19335355 )
2009
15
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. ( 20020575 )
2009
16
Capnography guided awake nasal intubation in a 4 month infant with pierre robin syndrome for cleft lip repair-a better technique. ( 20640099 )
2009
17
Intubation of infants with Pierre Robin syndrome: the use of the paraglossal approach combined with a gum-elastic bougie in six consecutive cases. ( 18211445 )
2008
18
A new technique for laryngeal mask airway insertion in a newborn with pierre-robin syndrome: a case report. ( 25610049 )
2008
19
Right molar approach to tracheal intubation in a child with Pierre Robin syndrome, cleft palate, and tongue tie. ( 18070792 )
2008
20
The effect of glossopexy on weight velocity in infants with Pierre Robin syndrome. ( 18280277 )
2008
21
Pierre-Robin syndrome: a case report. ( 17618445 )
2008
22
Pierre Robin syndrome: an update. ( 17599114 )
2007
23
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. ( 17021725 )
2006
24
Anaplastic astrocytoma of an oncocytic type occurring in the cerebellar vermis in Pierre Robin syndrome--case report. ( 1282685 )
1992
25
Pierre Robin syndrome combined with unilateral choanal atresia. ( 3118298 )
1987
26
Cor pulmonale in severe Pierre Robin syndrome. ( 7355014 )
1980
27
Pierre Robin syndrome with congenital hepatic fibrosis. ( 1205578 )
1975
28
Cor pulmonale in the Pierre Robin syndrome. ( 4441125 )
1974
29
Stickler syndrome in a pedigree of Pierre Robin syndrome. ( 4198747 )
1973
30
[ON THE PATHOGENESIS AND THERAPY OF PIERRE ROBIN SYNDROME]. ( 14293686 )
1964

Variations for Pierre Robin Syndrome

Expression for Pierre Robin Syndrome

Search GEO for disease gene expression data for Pierre Robin Syndrome.

Pathways for Pierre Robin Syndrome

Pathways related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2
Show member pathways
13.65 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3
Show member pathways
13.61 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
4
Show member pathways
13.54 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5
Show member pathways
13.44 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
6
Show member pathways
12.42 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
7
Show member pathways
12.24 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
8
Show member pathways
12.15 RPS10 RPS17 RPS19 RPS24 RPS26 RPS28
9 11.91 RPL11 RPL26 RPL5

GO Terms for Pierre Robin Syndrome

Cellular components related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 RPL11 RPL26 RPL5 RPS10 RPS19 RPS7
2 ribosome GO:0005840 9.97 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3 focal adhesion GO:0005925 9.93 RPL5 RPS10 RPS17 RPS19 RPS29 RPS7
4 extracellular matrix GO:0031012 9.91 RPL11 RPL35A RPS10 RPS17 RPS19 RPS7
5 intracellular ribonucleoprotein complex GO:0030529 9.77 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
6 cytosolic large ribosomal subunit GO:0022625 9.72 RPL11 RPL15 RPL26 RPL35A RPL5
7 small ribosomal subunit GO:0015935 9.67 RPS24 RPS26 RPS28 RPS29
8 cytosolic small ribosomal subunit GO:0022627 9.23 RPS10 RPS17 RPS19 RPS24 RPS26 RPS28
9 cytosol GO:0005829 10.31 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
10 nucleoplasm GO:0005654 10.22 RPL11 RPL26 RPS10 RPS17 RPS19 RPS24
11 extracellular exosome GO:0070062 10.18 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
12 intracellular GO:0005622 10.03 RPL11 RPL15 RPL26 RPL35A RPL5 RPS17

Biological processes related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.97 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2 positive regulation of gene expression GO:0010628 9.87 RPL11 RPL5 RPS7 SOX9
3 ribosomal small subunit biogenesis GO:0042274 9.8 RPS17 RPS19 RPS24 RPS28 RPS7
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.77 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5 ribosomal large subunit biogenesis GO:0042273 9.76 RPL11 RPL26 RPL35A RPL5
6 protein stabilization GO:0050821 9.75 RPL11 RPL5 RPS7
7 ribosomal small subunit assembly GO:0000028 9.73 RPS10 RPS17 RPS19 RPS28
8 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 RPS19 RPS24 TSR2
9 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.67 RPL11 RPL5 RPS7
10 negative regulation of ubiquitin protein ligase activity GO:1904667 9.65 RPL11 RPL5 RPS7
11 protein localization to nucleus GO:0034504 9.58 RPL11 SOX9
12 ribosomal large subunit assembly GO:0000027 9.56 RPL11 RPL5
13 maturation of SSU-rRNA GO:0030490 9.55 RPS19 RPS28
14 erythrocyte homeostasis GO:0034101 9.54 RPS17 RPS24
15 negative regulation of protein neddylation GO:2000435 9.51 RPL11 RPL5
16 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.44 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
17 rRNA processing GO:0006364 10.21 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
18 viral transcription GO:0019083 10.13 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
19 translation GO:0006412 10.07 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10

Molecular functions related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.77 RBM10 RPL11 RPL15 RPL26 RPL35A RPL5
2 structural constituent of ribosome GO:0003735 9.44 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3 mRNA 5-UTR binding GO:0048027 9.43 RPL26 RPL5 RPS7
4 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPL11 RPL5 RPS7
5 5S rRNA binding GO:0008097 9.32 RPL11 RPL5

Sources for Pierre Robin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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