MCID: PLY006
MIFTS: 54

Polydactyly

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Polydactyly

MalaCards integrated aliases for Polydactyly:

Name: Polydactyly 12 50 29 52 42 14
Polydactyly, Postaxial 42 69
Postaxial Polydactyly 12
Supernumerary Digits 50
Supernumerary Digit 12
Polydactylism 50
Extra Digits 50
Hyperdactyly 50
Polydactylia 50

Classifications:



Summaries for Polydactyly

NIH Rare Diseases : 50 polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. it is the most common birth defect of the hand and foot. polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. however, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. in some cases, the extra digits may be well-formed and functional. surgery may be considered especially for poorly formed digits or very large extra digits. surgical management depends greatly on the complexity of the deformity. last updated: 5/8/2015

MalaCards based summary : Polydactyly, also known as polydactyly, postaxial, is related to polydactyly, preaxial type ii and hypoplastic or aplastic tibia with polydactyly. An important gene associated with Polydactyly is MKS1 (Meckel Syndrome, Type 1), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are cellular and growth/size/body region

Wikipedia : 72 Polydactyly or polydactylism (from Greek πολύς (polys), meaning \'many\', and δάκτυλος (daktylos),... more...

Related Diseases for Polydactyly

Diseases in the Polydactyly family:

Central Polydactyly of Toes

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

(show top 50) (show all 377)
id Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial type ii 34.0 LMBR1 SHH
2 hypoplastic or aplastic tibia with polydactyly 33.9 LMBR1 SHH
3 polydactyly of an index finger, bilateral 33.7 LMBR1 SHH
4 central polydactyly of toes, bilateral 33.6 GLI3 ZNF141
5 laurin-sandrow syndrome 32.8 LMBR1 SHH
6 polydactyly, preaxial, type iv 32.7 GLI2 GLI3 MKKS SHH
7 pallister-hall syndrome 32.6 GLI2 GLI3
8 polysyndactyly, unilateral 31.9 LMBR1 SHH
9 syndactyly, type iv 31.8 LMBR1 SHH
10 basal cell nevus syndrome 31.3 GLI2 GLI3 SHH
11 weyers acrofacial dysostosis 31.2 DYNC2H1 DYNC2LI1 NEK1 WDR35
12 imperforate anus 30.6 GLI2 GLI3 SHH
13 bardet-biedl syndrome 15 30.2 BBS2 BBS4 MKKS
14 joubert syndrome 28 29.2 BBS1 BBS2 BBS4 MKS1
15 short-rib thoracic dysplasia 3 with or without polydactyly 12.3
16 polydactyly, postaxial, types a1 and b 12.2
17 short-rib thoracic dysplasia 6 with or without polydactyly 12.1
18 dandy-walker malformation with postaxial polydactyly 12.0
19 polydactyly, preaxial i 12.0
20 short-rib thoracic dysplasia 7 with or without polydactyly 12.0
21 short-rib thoracic dysplasia 8 with or without polydactyly 12.0
22 polydactyly, preaxial iii 12.0
23 short-rib thoracic dysplasia 10 with or without polydactyly 12.0
24 short-rib thoracic dysplasia 11 with or without polydactyly 12.0
25 short-rib thoracic dysplasia 14 with polydactyly 12.0
26 short-rib thoracic dysplasia 15 with polydactyly 11.9
27 short-rib thoracic dysplasia 16 with or without polydactyly 11.9
28 short-rib thoracic dysplasia 5 with or without polydactyly 11.9
29 short-rib thoracic dysplasia 9 with or without polydactyly 11.9
30 short-rib thoracic dysplasia 2 with or without polydactyly 11.9
31 short-rib thoracic dysplasia 4 with or without polydactyly 11.9
32 short-rib thoracic dysplasia 17 with or without polydactyly 11.9
33 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.9
34 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.9
35 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.9
36 short-rib thoracic dysplasia 13 with or without polydactyly 11.9
37 polydactyly, postaxial, with progressive myopia 11.9
38 short-rib thoracic dysplasia 1 with or without polydactyly 11.9
39 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.9
40 split-foot malformation with mesoaxial polydactyly 11.9
41 polydactyly, postaxial, type a6 11.8
42 tibia absent polydactyly arachnoid cyst 11.8
43 polydactyly cleft lip palate psychomotor retardation 11.8
44 scalp defects and postaxial polydactyly 11.8
45 chondrodysplasia situs inversus imperforate anus polydactyly 11.7
46 polydactyly, postaxial, type a7 11.7
47 preaxial polydactyly of toes 11.7
48 central polydactyly of fingers 11.7
49 central polydactyly of toes 11.7
50 postaxial polydactyly of toes 11.7

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to Polydactyly

Symptoms & Phenotypes for Polydactyly

MGI Mouse Phenotypes related to Polydactyly:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI2
2 growth/size/body region MP:0005378 10.29 LMBR1 MKKS MKS1 NEK1 SHH BBS1
3 cardiovascular system MP:0005385 10.27 BBS4 CCND2 DYNC2H1 DYNC2LI1 GLI3 MKKS
4 homeostasis/metabolism MP:0005376 10.26 NEK1 SHH WDR35 BBS1 BBS2 BBS4
5 mortality/aging MP:0010768 10.25 LMBR1 MKKS MKS1 NEK1 SHH WDR35
6 nervous system MP:0003631 10.22 DYNC2LI1 GLI2 GLI3 MIPOL1 MKKS MKS1
7 craniofacial MP:0005382 10.21 BBS1 BBS4 DYNC2H1 GLI2 GLI3 MKKS
8 limbs/digits/tail MP:0005371 10.2 BBS1 BBS2 DYNC2H1 DYNC2LI1 GLI2 GLI3
9 digestive/alimentary MP:0005381 10.15 BBS2 BBS4 DYNC2H1 GLI2 GLI3 MKS1
10 embryo MP:0005380 10.14 BBS4 DYNC2H1 DYNC2LI1 GLI2 GLI3 MKS1
11 endocrine/exocrine gland MP:0005379 10.13 BBS2 BBS4 CCND2 GLI2 GLI3 MKS1
12 hearing/vestibular/ear MP:0005377 10.04 BBS4 GLI2 GLI3 MKKS MKS1 SHH
13 reproductive system MP:0005389 10.02 BBS1 BBS2 BBS4 CCND2 GLI2 GLI3
14 renal/urinary system MP:0005367 9.97 BBS1 BBS2 BBS4 DYNC2H1 GLI3 MKS1
15 respiratory system MP:0005388 9.91 MKS1 SHH WDR35 BBS1 BBS4 DYNC2H1
16 skeleton MP:0005390 9.76 DYNC2H1 GLI2 GLI3 LMBR1 MKS1 NEK1
17 taste/olfaction MP:0005394 9.43 BBS4 GLI3 MKKS SHH BBS1 BBS2
18 vision/eye MP:0005391 9.36 BBS1 BBS2 BBS4 CCND2 DYNC2H1 GLI2

Drugs & Therapeutics for Polydactyly

Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Liver Extracts
3 insulin
4 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980
2 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
3 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
4 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
5 Visualize Nociceptor Changes in Neuropathic Human Recruiting NCT03112057
6 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

Genetic Tests for Polydactyly

Genetic tests related to Polydactyly:

id Genetic test Affiliating Genes
1 Polydactyly 29

Anatomical Context for Polydactyly

MalaCards organs/tissues related to Polydactyly:

39
Heart, Kidney, Liver, Bone, Brain, Tongue, Skin

Publications for Polydactyly

Articles related to Polydactyly:

(show top 50) (show all 690)
id Title Authors Year
1
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree. ( 28690477 )
2018
2
Girl with polydactyly and pigmentary retinopathy. ( 28370861 )
2017
3
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )
2017
4
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
5
Reply: Office-Based Postaxial Polydactyly Excision in Neonates, Infants, and Children. ( 28027268 )
2017
6
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. ( 28488682 )
2017
7
Polydactyly suggesting local husbandry of Pre-Columbian camelids: A case from Castillo de Huarmey archaeological site, northern coast of Peru. ( 28290309 )
2017
8
Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome. ( 28153592 )
2017
9
Analysis of surgical results and of residual postoperative deformities in preaxial polydactyly of the hand. ( 28579036 )
2017
10
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration. ( 28391260 )
2017
11
Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. ( 28059850 )
2017
12
On-top and side-to-side plasties for thumb polydactyly. ( 28822893 )
2017
13
Reconstruction of Wassel Type VI Radial Polydactyly with Triphalangeal Thumb Using an On-top Osteotomy. ( 28280661 )
2017
14
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. ( 28400947 )
2017
15
Preaxial polydactyly of the foot. ( 28946786 )
2017
16
Pedunculated Hemorrhagic Cystic Swelling: An Unusual Presentation of Polydactyly. ( 28584766 )
2017
17
Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly. ( 28127823 )
2017
18
Girl with polydactyly and pigmentary retinopathy. ( 28370859 )
2017
19
Genetic pattern and gene localization of polydactyly in Beijing fatty chicken. ( 28489934 )
2017
20
Noncontiguous Double Spinal Lipoma with Tethered Cord and Polydactyly: Two Different Embryological Events in One Patient. ( 28553379 )
2017
21
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. ( 28315472 )
2017
22
Oblique osteotomy for the correction of the zigzag deformity of Wassel type IV polydactyly. ( 28820841 )
2017
23
GLI3-related polydactyly: a review. ( 28224613 )
2017
24
Incidence of Acute Complications Following SurgeryA for Syndactyly and Polydactyly: An Analysis of the National Surgical Quality Improvement Program Database from 2012 to 2014. ( 28648327 )
2017
25
Parallel Evolution of Polydactyly Traits in Chinese and European Chickens. ( 26859147 )
2016
26
Polydactyly: A Review. ( 27194607 )
2016
27
Two cases of polydactyly in wild brown howler monkeys (Alouatta guariba clamitans). ( 26689726 )
2016
28
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. ( 27666822 )
2016
29
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. ( 27925158 )
2016
30
Clinical study of 459 polydactyly cases in China, 2010 to 2014. ( 26953323 )
2016
31
Clinical Presentation, Surgical Treatment, and Outcome in Radial Polydactyly. ( 26895514 )
2016
32
Clinical characterisation of polydactyly in Maine Coon cats. ( 26862149 )
2016
33
Inactivation of Sonic Hedgehog Signaling and Polydactyly in Limbs of Hereditary Multiple Malformation, a Novel Type of Talpid Mutant. ( 28083533 )
2016
34
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. ( 26900326 )
2016
35
Intranatal Torsion of Polydactyly: A Rare Event. ( 26828689 )
2016
36
Decision-making and Management of Ulnar Polydactyly of the Newborn: Outcomes and Satisfaction. ( 27595947 )
2016
37
Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report. ( 27200401 )
2016
38
An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family. ( 27922091 )
2016
39
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. ( 27480277 )
2016
40
An unusual presentation of postaxial polydactyly of the foot. ( 27910230 )
2016
41
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. ( 27323140 )
2016
42
A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb. ( 27592358 )
2016
43
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. ( 27466187 )
2016
44
Office-Based Post-Axial Polydactyly Excision in Neonates, Infants and Children. ( 27643414 )
2016
45
Classifications in Brief: The Wassel Classification for Radial Polydactyly. ( 27613532 )
2016
46
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. ( 27442694 )
2016
47
Reply to correspondence: Office-Based Post-Axial Polydactyly Excision in Neonates, Infants, and Children. ( 27643419 )
2016
48
Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome. ( 26970085 )
2016
49
Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies. ( 27803525 )
2016
50
Preaxial polydactyly following early gestational exposure to the smoothened agonist, SAG, in C57BL/6J mice. ( 27801979 )
2016

Variations for Polydactyly

ClinVar genetic disease variations for Polydactyly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic rs754279998 GRCh37 Chromosome 17, 56285514: 56285516
2 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200750564 GRCh37 Chromosome 2, 176959246: 176959246

Copy number variations for Polydactyly from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97909 16 14700000 16700000 Duplication or delet ion polydactyly

Expression for Polydactyly

Search GEO for disease gene expression data for Polydactyly.

Pathways for Polydactyly

GO Terms for Polydactyly

Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.85 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI2 MKKS
2 axoneme GO:0005930 9.8 BBS1 DYNC2H1 DYNC2LI1 GLI2 GLI3 WDR34
3 cytoplasmic dynein complex GO:0005868 9.76 DYNC2H1 DYNC2LI1 WDR34 WDR60
4 ciliary basal body GO:0036064 9.76 BBS1 BBS2 BBS4 DYNC2LI1 MKKS MKS1
5 centriole GO:0005814 9.74 BBS4 MKS1 WDR34
6 ciliary membrane GO:0060170 9.72 BBS1 BBS2 BBS4
7 ciliary transition zone GO:0035869 9.71 BBS4 DYNC2LI1 MKS1
8 ciliary base GO:0097546 9.7 GLI2 GLI3 WDR60
9 pericentriolar material GO:0000242 9.69 BBS4 NEK1 WDR60
10 BBSome GO:0034464 9.67 BBS1 BBS2 BBS4
11 ciliary tip GO:0097542 9.5 DYNC2H1 DYNC2LI1 GLI2 GLI3 WDR34 WDR35
12 cilium GO:0005929 9.36 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI2
13 cytoplasm GO:0005737 10.37 BBS1 BBS2 BBS4 CCND2 DYNC2H1 DYNC2LI1
14 cytoskeleton GO:0005856 10.18 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 MKKS
15 centrosome GO:0005813 10.03 BBS1 BBS4 DYNC2LI1 MKKS MKS1 NEK1
16 cell projection GO:0042995 10.02 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
17 microtubule organizing center GO:0005815 10.01 BBS1 BBS2 BBS4 DYNC2LI1 MKKS MKS1

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.99 BBS1 BBS2 BBS4 MKKS
2 kidney development GO:0001822 9.9 GLI2 GLI3 SHH
3 anterior/posterior pattern specification GO:0009952 9.89 GLI2 GLI3 SHH
4 lung development GO:0030324 9.89 GLI2 GLI3 SHH
5 fat cell differentiation GO:0045444 9.88 BBS2 BBS4 MKKS
6 cerebral cortex development GO:0021987 9.88 BBS2 BBS4 MKKS
7 forebrain development GO:0030900 9.88 DYNC2H1 GLI3 SHH
8 hippocampus development GO:0021766 9.88 BBS2 BBS4 GLI3 MKKS
9 smoothened signaling pathway GO:0007224 9.87 GLI2 GLI3 SHH
10 heart looping GO:0001947 9.85 BBS4 MKKS SHH
11 odontogenesis of dentin-containing tooth GO:0042475 9.85 GLI2 GLI3 SHH
12 embryonic limb morphogenesis GO:0030326 9.85 DYNC2H1 GLI3 SHH
13 pattern specification process GO:0007389 9.85 GLI2 GLI3 SHH
14 positive regulation of multicellular organism growth GO:0040018 9.84 BBS2 BBS4 MKKS
15 dorsal/ventral pattern formation GO:0009953 9.84 DYNC2H1 GLI2 GLI3 SHH
16 photoreceptor cell maintenance GO:0045494 9.83 BBS1 BBS2 BBS4 MKKS
17 developmental growth GO:0048589 9.81 GLI2 GLI3 SHH
18 melanosome transport GO:0032402 9.8 BBS2 BBS4 MKKS
19 brain morphogenesis GO:0048854 9.8 BBS2 BBS4 MKKS
20 determination of left/right symmetry GO:0007368 9.8 DYNC2H1 DYNC2LI1 MKKS MKS1 SHH
21 protein localization to cilium GO:0061512 9.79 BBS1 BBS4 WDR35
22 anatomical structure formation involved in morphogenesis GO:0048646 9.78 GLI2 GLI3 SHH
23 branching morphogenesis of an epithelial tube GO:0048754 9.78 GLI2 GLI3 MKS1 SHH
24 anatomical structure development GO:0048856 9.77 GLI2 GLI3 SHH
25 striatum development GO:0021756 9.75 BBS2 BBS4 MKKS
26 limb morphogenesis GO:0035108 9.74 GLI3 ZNF141
27 vasodilation GO:0042311 9.74 BBS2 MKKS
28 proximal/distal pattern formation GO:0009954 9.74 GLI2 GLI3
29 hindbrain development GO:0030902 9.74 GLI2 SHH
30 regulation of smoothened signaling pathway GO:0008589 9.74 GLI2 MKS1
31 positive regulation of neuroblast proliferation GO:0002052 9.74 GLI3 SHH
32 embryonic digestive tract morphogenesis GO:0048557 9.73 GLI3 SHH
33 positive regulation of protein import into nucleus GO:0042307 9.73 GLI3 SHH
34 embryonic digestive tract development GO:0048566 9.73 GLI2 GLI3
35 face development GO:0060324 9.73 BBS4 MKKS
36 osteoblast development GO:0002076 9.73 GLI2 SHH
37 response to leptin GO:0044321 9.73 BBS2 BBS4 MKKS
38 embryonic morphogenesis GO:0048598 9.72 GLI3 SHH
39 regulation of stress fiber assembly GO:0051492 9.72 BBS4 MKKS
40 protein localization to organelle GO:0033365 9.72 BBS2 BBS4
41 head development GO:0060322 9.72 GLI2 MKS1
42 negative regulation of actin filament polymerization GO:0030837 9.72 BBS4 MKKS
43 leptin-mediated signaling pathway GO:0033210 9.72 BBS2 BBS4 MKKS
44 embryonic digit morphogenesis GO:0042733 9.72 GLI2 GLI3 LMBR1 MKS1 SHH
45 dorsal/ventral neural tube patterning GO:0021904 9.71 GLI2 SHH
46 negative thymic T cell selection GO:0045060 9.71 GLI3 SHH
47 artery smooth muscle contraction GO:0014824 9.7 BBS2 MKKS
48 positive regulation of alpha-beta T cell differentiation GO:0046638 9.7 GLI3 SHH
49 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
50 artery development GO:0060840 9.69 GLI3 SHH

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DYNC2H1 DYNC2LI1
2 patched binding GO:0005113 9.26 BBS1 SHH
3 dynein light chain binding GO:0045503 9.16 WDR34 WDR60
4 RNA polymerase II repressing transcription factor binding GO:0001103 8.92 BBS1 BBS2 BBS4 MKKS
5 dynein heavy chain binding GO:0045504 8.65 DYNC2LI1

Sources for Polydactyly

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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