MCID: SHR069
MIFTS: 49

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 53 12 71 14
Majewski Syndrome 53 12 49 71 69
Srps2a 53 12 71
Srtd6 53 12 71
Polydactyly with Neonatal Chondrodystrophy, Type Ii 53 12
Short Rib-Polydactyly Syndrome, Majewski Type 55 28
Short Rib-Polydactyly Syndrome, Type Iia 53 13
Short Rib-Polydactyly Syndrome Type Iia 12 71
Short Rib-Polydactyly Syndrome Type Ii 49 71
Short Rib-Polydactyly Syndrome Type 2 49 55
Polydactyly with Neonatal Chondrodystrophy Type Ii 71
Polydactyly with Neonatal Chondrodystrophy Type 2 49
Short Rib-Polydactyly Syndrome, Type Iia; Srps2a 53
Short Rib-Polydactyly Syndrome Majewski Type 49
Short Rib-Polydactyly Syndrome, Type Ii 53
Short Rib-Polydactyly Syndrome 2a 71
Srps, Type Ii 53
Srps Type Ii 71
Srps Type 2 49

Characteristics:

Orphanet epidemiological data:

55
short rib-polydactyly syndrome, majewski type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

53
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
digenic form caused by heterozygous mutations in both nek1 and dyn2ch1


HPO:

31
short-rib thoracic dysplasia 6 with or without polydactyly:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

OMIM : 53 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (263520)

MalaCards based summary : Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to short-rib thoracic dysplasia 3 with or without polydactyly and zerres rietschel majewski syndrome, and has symptoms including brachycephaly, cleft palate and narrow chest. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include kidney, bone and brain, and related phenotypes are cellular and craniofacial

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33.

UniProtKB/Swiss-Prot : 71 Short-rib thoracic dysplasia 6 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 3 with or without polydactyly 30.0 DYNC2H1 EVC EVC2 IFT122 IFT80 NEK1
2 zerres rietschel majewski syndrome 11.9
3 orofaciodigital syndrome iv 11.8
4 lenz-majewski hyperostotic dwarfism 11.5
5 bosma arhinia microphthalmia syndrome 10.9
6 polydactyly 10.5
7 short-rib thoracic dysplasia 10 with or without polydactyly 10.5
8 weyers acrofacial dysostosis 10.4 EVC EVC2
9 polydactyly, postaxial, type a1 10.3 EVC EVC2
10 acrofacial dysostosis 10.2 EVC EVC2
11 blood group, i system 10.2
12 clouston syndrome 10.1 EVC EVC2
13 orofaciodigital syndrome vi 10.1 TCTN1 TCTN3
14 kidney disease 10.1
15 orofaciodigital syndrome 10.0 TCTN1 TCTN3
16 cleft lip/palate 9.9 DYNC2H1 IFT80 NEK1 TTC21B
17 meckel syndrome, type 1 9.9 TCTN1 TCTN2 TCTN3
18 spastic paraplegia 54, autosomal recessive 9.8 CYP2U1 DDHD1
19 encephalocele 9.8 TCTN2 TCTN3
20 joubert syndrome 1 9.7 TCTN1 TCTN2 TCTN3 TTC21B
21 short-rib thoracic dysplasia 1 with or without polydactyly 9.7 DYNC2H1 EVC2 IFT80 TRAF3IP1 TTC21B
22 ellis-van creveld syndrome 9.6 DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
23 short-rib thoracic dysplasia 12 9.3 EVC2 IFT122 IFT80 NEK1 TTC21B
24 cranioectodermal dysplasia 1 9.3 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
25 asphyxiating thoracic dystrophy 8.3 DYNC2H1 EVC EVC2 IFT80 NEK1 PTDSS1

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

53
Prenatal Manifestations:
hydrops fetalis

Genitourinary External Genitalia Female:
ambiguous genitalia

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
postaxial polydactyly
preaxial polydactyly
polysyndactyly

Genitourinary Kidneys:
polycystic kidneys
glomerular and renal tubular cysts

Skeletal Pelvis:
normal pelvis

Skeletal Limbs:
short long bones
disproportionate shortening of the tibia
ovoid tibia shorter than fibula
tibial agenesis (in some patients)

Abdomen Liver:
hepatic fibrosis (rare)

Head And Neck Head:
brachycephaly (in some patients)

Respiratory Larynx:
malformed larynx

Neurologic Central Nervous System:
dilation of lateral ventricles (in some patients)
pachygyria (rare)
hypoplastic cerebellar vermis (rare)
leukomalacia (rare)

Genitourinary External Genitalia Male:
ambiguous genitalia
micropenis (in some patients)

Head And Neck Mouth:
median cleft lip
cleft-palate
lingual hamartoma (in some patients)
multiple frenula (in some patients)
microglossia (rare)

Chest RibsSternum Clavicles And Scapulae:
short ribs
handlebar clavicles
horizontal ribs
squared scapulae

Skeletal Feet:
postaxial polydactyly
hallucal and postaxial polysyndactyly

Chest External Features:
narrow thorax

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)

Respiratory Nasopharynx:
hypoplastic epiglottis

Abdomen Gastroin testinal:
intestinal malrotation (in some patients)

Growth Height:
dwarfism, disproportionate

Skeletal:
markedly stunted and disorganized endochondral ossification


Clinical features from OMIM:

263520

Human phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 31 occasional (7.5%) HP:0000248
2 cleft palate 31 HP:0000175
3 narrow chest 31 HP:0000774
4 hydrops fetalis 31 HP:0001789
5 hepatic fibrosis 31 occasional (7.5%) HP:0001395
6 atrial septal defect 31 occasional (7.5%) HP:0001631
7 polycystic kidney dysplasia 31 HP:0000113
8 ventricular septal defect 31 occasional (7.5%) HP:0001629
9 intestinal malrotation 31 occasional (7.5%) HP:0002566
10 ambiguous genitalia 31 HP:0000062
11 pancreatic fibrosis 31 occasional (7.5%) HP:0100732
12 preaxial hand polydactyly 31 HP:0001177
13 pachygyria 31 occasional (7.5%) HP:0001302
14 postaxial hand polydactyly 31 HP:0001162
15 median cleft lip 31 HP:0000161
16 micropenis 31 occasional (7.5%) HP:0000054
17 pulmonary hypoplasia 31 HP:0002089
18 cerebellar vermis hypoplasia 31 occasional (7.5%) HP:0001320
19 microglossia 31 occasional (7.5%) HP:0000171
20 hamartoma of tongue 31 HP:0011802
21 short ribs 31 HP:0000773
22 lateral clavicle hook 31 HP:0000895
23 hypoplasia of the epiglottis 31 HP:0005349
24 dilation of lateral ventricles 31 occasional (7.5%) HP:0006956
25 horizontal ribs 31 HP:0000888
26 disproportionate shortening of the tibia 31 HP:0005766
27 thoracic dysplasia 31 HP:0006644
28 polysyndactyly of hallux 31 HP:0005873
29 postaxial polysyndactyly of foot 31 HP:0005817

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 TRAF3IP1 TTC21B FUZ TCTN2 IFT122 DYNC2H1
2 craniofacial MP:0005382 10.02 TTC21B FUZ TCTN2 IFT122 DYNC2H1 IFT80
3 limbs/digits/tail MP:0005371 9.96 TTC21B TCTN2 TRAF3IP1 IFT122 DYNC2H1 IFT80
4 mortality/aging MP:0010768 9.93 FUZ TRAF3IP1 IFT122 CYP2U1 DYNC2H1 IFT80
5 embryo MP:0005380 9.87 TRAF3IP1 TTC21B TCTN2 FUZ IFT122 DYNC2H1
6 nervous system MP:0003631 9.61 TRAF3IP1 TTC21B TCTN2 FUZ IFT122 DYNC2H1
7 skeleton MP:0005390 9.23 TTC21B FUZ DDHD1 DYNC2H1 IFT80 NEK1

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short Rib-Polydactyly Syndrome, Majewski Type 28 NEK1

Anatomical Context for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

38
Kidney, Bone, Brain, Liver, Heart, Eye, Pancreas

Publications for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

# Title Authors Year
1
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ( 24241535 )
2014
2
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. ( 24854045 )
2014
3
TCTN3 mutations cause Mohr-Majewski syndrome. ( 22883145 )
2012
4
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). ( 20607029 )
2010
5
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )
2007
6
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )
1999
7
Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. ( 6535999 )
1984

Variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

71
# Symbol AA change Variation ID SNP ID
1 NEK1 p.Gly145Arg VAR_069617 rs431905508
2 NEK1 p.Leu253Ser VAR_069618

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK1 NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs387906890 GRCh37 Chromosome 4, 170511894: 170511894
2 NEK1 NM_001199397.1(NEK1): c.869-2A> G single nucleotide variant Pathogenic rs483352906 GRCh37 Chromosome 4, 170498232: 170498232
3 NEK1 NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs431905508 GRCh37 Chromosome 4, 170510629: 170510629
4 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh37 Chromosome 4, 170498231: 170498231
5 NEK1 NM_001199397.1(NEK1): c.117+1G> A single nucleotide variant Pathogenic rs794727285 GRCh37 Chromosome 4, 170523664: 170523664
6 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh37 Chromosome 4, 5642516: 5642516
7 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
8 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh37 Chromosome 4, 5749953: 5749953
9 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199947197 GRCh37 Chromosome 4, 170345819: 170345819
10 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant Pathogenic rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
11 DYNC2H1 NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Pathogenic/Likely pathogenic rs771487311 GRCh38 Chromosome 11, 103255530: 103255530
12 TTC21B NM_024753.4(TTC21B): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs79746977 GRCh38 Chromosome 2, 165907746: 165907746
13 TTC21B NM_024753.4(TTC21B): c.131C> A (p.Ala44Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 165949615: 165949615
14 TTC21B NM_024753.4(TTC21B): c.19_20insGCGGGTG (p.Lys7Serfs) insertion Likely pathogenic rs759648976 GRCh38 Chromosome 2, 165953686: 165953687
15 TRAF3IP1 NM_015650.3(TRAF3IP1): c.169G> A (p.Glu57Lys) single nucleotide variant Pathogenic rs769651861 GRCh38 Chromosome 2, 238325351: 238325351
16 TRAF3IP1 NM_015650.3(TRAF3IP1): c.988-1G> C single nucleotide variant Pathogenic rs372499275 GRCh38 Chromosome 2, 238333959: 238333959
17 IFT172 NM_015662.2(IFT172): c.2765dup (p.Tyr922Terfs) duplication Likely pathogenic GRCh38 Chromosome 2, 27459400: 27459400
18 NEK1 NM_001199397.1(NEK1): c.2886-1G> A single nucleotide variant Pathogenic rs773496891 GRCh37 Chromosome 4, 170347386: 170347386
19 NEK1 NM_001199397.1(NEK1): c.2814_2817delCAAA (p.Asn938Lysfs) deletion Pathogenic rs752878896 GRCh37 Chromosome 4, 170354764: 170354767
20 NEK1 NM_001199397.1(NEK1): c.1992delA (p.Val665Cysfs) deletion Likely pathogenic rs775849720 GRCh38 Chromosome 4, 169507052: 169507052
21 NEK1 NM_001199397.1(NEK1): c.1868delG (p.Ser623Metfs) deletion Pathogenic GRCh37 Chromosome 4, 170428909: 170428909
22 NEK1 NM_001199397.1(NEK1): c.1769_1770delGG (p.Arg590Thrfs) deletion Pathogenic GRCh37 Chromosome 4, 170429462: 170429463
23 NEK1 NM_001199397.1(NEK1): c.1618C> T (p.Arg540Ter) single nucleotide variant Pathogenic rs758677637 GRCh37 Chromosome 4, 170459007: 170459007
24 NEK1 NM_001199397.1(NEK1): c.1226G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs985064686 GRCh37 Chromosome 4, 170482671: 170482671
25 NEK1 NM_001199397.1(NEK1): c.599_602delAACA (p.Lys200Metfs) deletion Pathogenic GRCh38 Chromosome 4, 169587563: 169587566
26 EVC2 NM_147127.4(EVC2): c.1708C> T (p.Gln570Ter) single nucleotide variant Pathogenic rs769864196 GRCh38 Chromosome 4, 5631795: 5631795
27 EVC NM_153717.2(EVC): c.363C> A (p.Tyr121Ter) single nucleotide variant Pathogenic rs748523193 GRCh38 Chromosome 4, 5729369: 5729369
28 EVC NM_153717.2(EVC): c.904_906delAAG (p.Lys302del) deletion Pathogenic/Likely pathogenic GRCh37 Chromosome 4, 5747033: 5747035
29 DYNC2H1 NM_001080463.1(DYNC2H1): c.10063+2T> G single nucleotide variant Pathogenic GRCh38 Chromosome 11, 103245376: 103245376
30 FUZ NM_025129.4(FUZ): c.98_111+9del deletion Pathogenic rs548706733 GRCh38 Chromosome 19, 49812987: 49813009

Expression for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 DYNC2H1 IFT122 IFT80 TCTN1 TCTN2 TCTN3
2
Show member pathways
12.17 DYNC2H1 EVC EVC2 FUZ IFT122 TTC21B
3 10.63 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B

GO Terms for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.8 DYNC2H1 EVC EVC2 IFT122 IFT80 TRAF3IP1
2 cytoskeleton GO:0005856 9.7 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3 ciliary basal body GO:0036064 9.65 EVC IFT122 TRAF3IP1
4 ciliary membrane GO:0060170 9.62 EVC EVC2 TCTN2 TCTN3
5 ciliary tip GO:0097542 9.55 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
6 ciliary transition zone GO:0035869 9.52 TCTN1 TRAF3IP1
7 ciliary base GO:0097546 9.51 IFT122 TRAF3IP1
8 intraciliary transport particle B GO:0030992 9.49 IFT80 TRAF3IP1
9 MKS complex GO:0036038 9.46 TCTN1 TCTN2
10 plasma membrane protein complex GO:0098797 9.43 EVC EVC2
11 intraciliary transport particle A GO:0030991 9.4 IFT122 TTC21B
12 cell projection GO:0042995 9.32 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
13 cytoplasm GO:0005737 10.18 DDHD1 DYNC2H1 EVC EVC2 FUZ IFT122

Biological processes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 intraciliary transport involved in cilium assembly GO:0035735 9.65 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
2 ciliary basal body-plasma membrane docking GO:0097711 9.63 TCTN1 TCTN2 TCTN3
3 smoothened signaling pathway GO:0007224 9.63 EVC EVC2 IFT80 TCTN2 TCTN3 TTC21B
4 non-motile cilium assembly GO:1905515 9.58 FUZ IFT122 IFT80
5 cell projection organization GO:0030030 9.56 DYNC2H1 FUZ IFT122 NEK1 TCTN1 TCTN2
6 regulation of smoothened signaling pathway GO:0008589 9.54 FUZ TCTN1 TTC21B
7 positive regulation of smoothened signaling pathway GO:0045880 9.51 EVC IFT80
8 intraciliary retrograde transport GO:0035721 9.5 DYNC2H1 IFT122 TTC21B
9 embryonic heart tube development GO:0035050 9.49 IFT122 TRAF3IP1
10 protein localization to cilium GO:0061512 9.48 IFT122 TTC21B
11 embryonic body morphogenesis GO:0010172 9.43 FUZ IFT122
12 cilium assembly GO:0060271 9.28 DYNC2H1 FUZ IFT122 IFT80 NEK1 TCTN1

Sources for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

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
46 NCIt
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
Content
Loading form....