MKS3
MCID: MCK032
MIFTS: 43

Meckel Syndrome, Type 3 (MKS3)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Meckel Syndrome, Type 3

MalaCards integrated aliases for Meckel Syndrome, Type 3:

Name: Meckel Syndrome, Type 3 57 40
Meckel Syndrome 3 57 12 75 13 15
Meckel Syndrome Type 3 53 29 6 73
Mks3 57 12 53 75
Meckel-Gruber Syndrome, Type 3 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or in the perinatal period


HPO:

32
meckel syndrome, type 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 3

OMIM : 57 Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (607361)

MalaCards based summary : Meckel Syndrome, Type 3, also known as meckel syndrome 3, is related to congenital hepatic fibrosis and coach syndrome. An important gene associated with Meckel Syndrome, Type 3 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and bone, and related phenotypes are hydrocephalus and cleft palate

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1.

UniProtKB/Swiss-Prot : 75 Meckel syndrome 3: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

Related Diseases for Meckel Syndrome, Type 3

Diseases in the Meckel Syndrome, Type 1 family:

Meckel Syndrome, Type 7 Meckel Syndrome, Type 2
Meckel Syndrome, Type 3 Meckel Syndrome, Type 4
Meckel Syndrome, Type 5 Meckel Syndrome, Type 6
Meckel Syndrome, Type 8 Meckel Syndrome, Type 10
Meckel Syndrome, Type 9 Meckel Syndrome, Type 11
Meckel Syndrome 12 Meckel Syndrome 13

Diseases related to Meckel Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 congenital hepatic fibrosis 29.9 CC2D2A RPGRIP1L TMEM67
2 coach syndrome 29.9 CC2D2A RPGRIP1L TMEM67
3 meckel syndrome, type 1 29.2 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
4 joubert syndrome 1 28.9 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
5 meckel syndrome, type 4 10.1 CEP290 MKS1
6 joubert syndrome with oculorenal anomalies 10.0 CC2D2A CEP290
7 hydrolethalus syndrome 1 10.0 MKS1 TMEM67
8 bardet-biedl syndrome 14 10.0 CEP290 TMEM67
9 joubert syndrome 14 10.0 B9D2 RPGRIP1L
10 meckel syndrome, type 5 10.0 B9D2 RPGRIP1L
11 oligohydramnios 10.0 CC2D2A TMEM67
12 pathologic nystagmus 10.0 CEP290 MKS1 TMEM67
13 meckel syndrome, type 2 9.9 B9D2 MKS1 TMEM67
14 nephronophthisis 19 9.9 NPHP1 TMEM67
15 joubert syndrome 2 9.9 NPHP1 TMEM67
16 joubert syndrome 17 9.9 CEP290 NPHP1
17 retinal aplasia 9.9 CEP290 NPHP1
18 nephronophthisis 2 9.9 MKS1 NPHP1
19 nephronophthisis 16 9.9 CEP290 NPHP1
20 joubert syndrome with renal anomalies 9.9 NPHP1 RPGRIP1L
21 coloboma of macula 9.9 CEP290 TMEM67
22 bardet-biedl syndrome 15 9.9 CC2D2A RPGRIP1L TMEM67
23 kidney disease 9.8 CEP290 NPHP1 TMEM67
24 encephalocele 9.8 CC2D2A CEP290 MKS1 TMEM67
25 cystic kidney disease 9.8 CC2D2A NPHP1 TMEM67
26 fundus dystrophy 9.7 CC2D2A CEP290 NPHP1
27 joubert syndrome 6 9.7 CEP290 MKS1 NPHP1 TMEM67
28 bardet-biedl syndrome 13 9.5 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
29 senior-loken syndrome 1 9.5 CC2D2A CEP290 MKS1 NPHP1 TMEM67
30 bardet-biedl syndrome 9.4 CEP290 MKS1 NPHP1 RPGRIP1L TMEM67
31 nephronophthisis 11 9.4 CC2D2A CEP290 NPHP1 RPGRIP1L TMEM67
32 retinitis pigmentosa 9.4 CC2D2A CEP290 NPHP1 RPGRIP1L
33 nephronophthisis 9.2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L TMEM67
34 meckel syndrome, type 6 9.2 B9D2 CC2D2A MKS1 NPHP1 RPGRIP1L TMEM67

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 3:



Diseases related to Meckel Syndrome, Type 3

Symptoms & Phenotypes for Meckel Syndrome, Type 3

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatic fibrosis
bile duct proliferation
ductal plate malformation
hepatic developmental defects

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
dandy-walker malformation (in some patients)
hydrocephalus (in some patients)
encephalocele, occipital

Head And Neck Mouth:
cleft palate (in some patients)

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia


Clinical features from OMIM:

607361

Human phenotypes related to Meckel Syndrome, Type 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 occasional (7.5%) HP:0000238
2 cleft palate 32 occasional (7.5%) HP:0000175
3 hepatic fibrosis 32 HP:0001395
4 multicystic kidney dysplasia 32 HP:0000003
5 postaxial hand polydactyly 32 HP:0001162
6 dandy-walker malformation 32 occasional (7.5%) HP:0001305
7 encephalocele 32 HP:0002084
8 bile duct proliferation 32 HP:0001408

MGI Mouse Phenotypes related to Meckel Syndrome, Type 3:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
2 cellular MP:0005384 10.01 B9D2 CC2D2A CEP290 MKS1 NPHP1 TMEM67
3 craniofacial MP:0005382 10 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
4 growth/size/body region MP:0005378 9.95 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
5 digestive/alimentary MP:0005381 9.91 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
6 nervous system MP:0003631 9.91 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
7 embryo MP:0005380 9.89 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
8 mortality/aging MP:0010768 9.88 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
9 renal/urinary system MP:0005367 9.87 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
10 limbs/digits/tail MP:0005371 9.85 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
11 liver/biliary system MP:0005370 9.83 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
12 reproductive system MP:0005389 9.65 B9D2 CEP290 MKS1 NPHP1 RPGRIP1L
13 respiratory system MP:0005388 9.55 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
14 skeleton MP:0005390 9.35 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
15 vision/eye MP:0005391 9.1 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L

Drugs & Therapeutics for Meckel Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 3

Genetic Tests for Meckel Syndrome, Type 3

Genetic tests related to Meckel Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 3 29 TMEM67

Anatomical Context for Meckel Syndrome, Type 3

MalaCards organs/tissues related to Meckel Syndrome, Type 3:

41
Kidney, Liver, Bone, Eye

Publications for Meckel Syndrome, Type 3

Articles related to Meckel Syndrome, Type 3:

# Title Authors Year
1
A mouse model for Meckel syndrome type 3. ( 19211713 )
2009

Variations for Meckel Syndrome, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 3:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Gln376Pro VAR_025474 rs137853106
2 TMEM67 p.Tyr513Cys VAR_031987 rs137853107
3 TMEM67 p.Met252Thr VAR_062313 rs202149403
4 TMEM67 p.Arg440Gln VAR_062318 rs386834182
5 TMEM67 p.Cys615Arg VAR_062319 rs201893408
6 TMEM67 p.Leu966Pro VAR_062320 rs386834199
7 TMEM67 p.Leu349Ser VAR_063790 rs386834180
8 TMEM67 p.Arg441Leu VAR_076874 rs386834183
9 TMEM67 p.Trp668Arg VAR_076877 rs386834189
10 TMEM67 p.Gly786Glu VAR_076879 rs386834193
11 TMEM67 p.Tyr843Cys VAR_076880 rs386834194

ClinVar genetic disease variations for Meckel Syndrome, Type 3:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.383_384delAC (p.His128Leufs) deletion Pathogenic/Likely pathogenic rs386834200 GRCh37 Chromosome 8, 94770781: 94770782
2 TMEM67 NM_153704.5(TMEM67): c.383_384delAC (p.His128Leufs) deletion Pathogenic/Likely pathogenic rs386834200 GRCh38 Chromosome 8, 93758553: 93758554
3 TMEM67 NM_153704.5(TMEM67): c.648delA (p.Val217Leufs) deletion Pathogenic/Likely pathogenic rs386834204 GRCh37 Chromosome 8, 94777871: 94777871
4 TMEM67 NM_153704.5(TMEM67): c.648delA (p.Val217Leufs) deletion Pathogenic/Likely pathogenic rs386834204 GRCh38 Chromosome 8, 93765643: 93765643
5 TMEM67 NM_153704.5(TMEM67): c.870-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386834207 GRCh37 Chromosome 8, 94793100: 94793100
6 TMEM67 NM_153704.5(TMEM67): c.870-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386834207 GRCh38 Chromosome 8, 93780872: 93780872
7 TMEM67 NM_001142301.1(TMEM67): c.884A> C (p.Gln295Pro) single nucleotide variant Pathogenic rs137853106 GRCh37 Chromosome 8, 94794684: 94794684
8 TMEM67 NM_001142301.1(TMEM67): c.884A> C (p.Gln295Pro) single nucleotide variant Pathogenic rs137853106 GRCh38 Chromosome 8, 93782456: 93782456
9 TMEM67 NM_153704.5(TMEM67): c.1575+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834187 GRCh37 Chromosome 8, 94803548: 94803548
10 TMEM67 NM_153704.5(TMEM67): c.1575+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834187 GRCh38 Chromosome 8, 93791320: 93791320
11 TMEM67 NM_153704.5(TMEM67): c.651+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs199821258 GRCh37 Chromosome 8, 94777876: 94777876
12 TMEM67 NM_153704.5(TMEM67): c.651+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs199821258 GRCh38 Chromosome 8, 93765648: 93765648
13 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
14 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
15 TMEM67 NM_153704.5(TMEM67): c.2754_2756delCTT (p.Phe919del) deletion Pathogenic rs786205126 GRCh37 Chromosome 8, 94822105: 94822107
16 TMEM67 NM_153704.5(TMEM67): c.2754_2756delCTT (p.Phe919del) deletion Pathogenic rs786205126 GRCh38 Chromosome 8, 93809877: 93809879
17 TMEM67 NM_153704.5(TMEM67): c.161A> G (p.Tyr54Cys) single nucleotide variant Likely pathogenic rs386834188 GRCh37 Chromosome 8, 94767303: 94767303
18 TMEM67 NM_153704.5(TMEM67): c.161A> G (p.Tyr54Cys) single nucleotide variant Likely pathogenic rs386834188 GRCh38 Chromosome 8, 93755075: 93755075
19 TMEM67 NM_153704.5(TMEM67): c.2002T> C (p.Trp668Arg) single nucleotide variant Likely pathogenic rs386834189 GRCh37 Chromosome 8, 94809600: 94809600
20 TMEM67 NM_153704.5(TMEM67): c.2002T> C (p.Trp668Arg) single nucleotide variant Likely pathogenic rs386834189 GRCh38 Chromosome 8, 93797372: 93797372
21 TMEM67 NM_153704.5(TMEM67): c.224-2delA deletion Likely pathogenic rs386834190 GRCh37 Chromosome 8, 94768004: 94768004
22 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
23 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
24 TMEM67 NM_153704.5(TMEM67): c.1065+1delG deletion Likely pathogenic rs386834181 GRCh37 Chromosome 8, 94793973: 94793973
25 TMEM67 NM_153704.5(TMEM67): c.1065+1delG deletion Likely pathogenic rs386834181 GRCh38 Chromosome 8, 93781745: 93781745
26 TMEM67 NM_153704.5(TMEM67): c.1319G> A (p.Arg440Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs386834182 GRCh37 Chromosome 8, 94798481: 94798481
27 TMEM67 NM_153704.5(TMEM67): c.1319G> A (p.Arg440Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs386834182 GRCh38 Chromosome 8, 93786253: 93786253
28 TMEM67 NM_153704.5(TMEM67): c.1322G> T (p.Arg441Leu) single nucleotide variant Likely pathogenic rs386834183 GRCh37 Chromosome 8, 94798484: 94798484
29 TMEM67 NM_153704.5(TMEM67): c.1322G> T (p.Arg441Leu) single nucleotide variant Likely pathogenic rs386834183 GRCh38 Chromosome 8, 93786256: 93786256
30 TMEM67 NM_153704.5(TMEM67): c.1336G> C (p.Asp446His) single nucleotide variant Likely pathogenic rs386834184 GRCh37 Chromosome 8, 94798498: 94798498
31 TMEM67 NM_153704.5(TMEM67): c.1336G> C (p.Asp446His) single nucleotide variant Likely pathogenic rs386834184 GRCh38 Chromosome 8, 93786270: 93786270
32 TMEM67 NM_153704.5(TMEM67): c.1413-1G> C single nucleotide variant Pathogenic rs386834185 GRCh37 Chromosome 8, 94800071: 94800071
33 TMEM67 NM_153704.5(TMEM67): c.1413-1G> C single nucleotide variant Pathogenic rs386834185 GRCh38 Chromosome 8, 93787843: 93787843
34 TMEM67 NM_153704.5(TMEM67): c.1538_1539delAT (p.Tyr513Terfs) deletion Likely pathogenic rs386834186 GRCh37 Chromosome 8, 94803510: 94803511
35 TMEM67 NM_153704.5(TMEM67): c.1538_1539delAT (p.Tyr513Terfs) deletion Likely pathogenic rs386834186 GRCh38 Chromosome 8, 93791282: 93791283
36 TMEM67 NM_153704.5(TMEM67): c.224-2delA deletion Likely pathogenic rs386834190 GRCh38 Chromosome 8, 93755776: 93755776
37 TMEM67 NM_153704.5(TMEM67): c.2301delT (p.Asp768Ilefs) deletion Likely pathogenic rs386834191 GRCh37 Chromosome 8, 94815891: 94815891
38 TMEM67 NM_153704.5(TMEM67): c.2301delT (p.Asp768Ilefs) deletion Likely pathogenic rs386834191 GRCh38 Chromosome 8, 93803663: 93803663
39 TMEM67 NM_153704.5(TMEM67): c.2322+2dupT duplication Conflicting interpretations of pathogenicity rs386834192 GRCh37 Chromosome 8, 94815914: 94815914
40 TMEM67 NM_153704.5(TMEM67): c.2322+2dupT duplication Conflicting interpretations of pathogenicity rs386834192 GRCh38 Chromosome 8, 93803686: 93803686
41 TMEM67 NM_153704.5(TMEM67): c.2357G> A (p.Gly786Glu) single nucleotide variant Uncertain significance rs386834193 GRCh37 Chromosome 8, 94817024: 94817024
42 TMEM67 NM_153704.5(TMEM67): c.2357G> A (p.Gly786Glu) single nucleotide variant Uncertain significance rs386834193 GRCh38 Chromosome 8, 93804796: 93804796
43 TMEM67 NM_153704.5(TMEM67): c.2528A> G (p.Tyr843Cys) single nucleotide variant Likely pathogenic rs386834194 GRCh37 Chromosome 8, 94821156: 94821156
44 TMEM67 NM_153704.5(TMEM67): c.2528A> G (p.Tyr843Cys) single nucleotide variant Likely pathogenic rs386834194 GRCh38 Chromosome 8, 93808928: 93808928
45 TMEM67 NM_153704.5(TMEM67): c.2542G> T (p.Glu848Ter) single nucleotide variant Likely pathogenic rs386834195 GRCh37 Chromosome 8, 94821170: 94821170
46 TMEM67 NM_153704.5(TMEM67): c.2542G> T (p.Glu848Ter) single nucleotide variant Likely pathogenic rs386834195 GRCh38 Chromosome 8, 93808942: 93808942
47 TMEM67 NM_153704.5(TMEM67): c.2557A> T (p.Lys853Ter) single nucleotide variant Likely pathogenic rs386834196 GRCh37 Chromosome 8, 94821285: 94821285
48 TMEM67 NM_153704.5(TMEM67): c.2557A> T (p.Lys853Ter) single nucleotide variant Likely pathogenic rs386834196 GRCh38 Chromosome 8, 93809057: 93809057
49 TMEM67 NM_153704.5(TMEM67): c.2561dupA (p.Asn854Lysfs) duplication Likely pathogenic rs386834197 GRCh37 Chromosome 8, 94821289: 94821289
50 TMEM67 NM_153704.5(TMEM67): c.2561dupA (p.Asn854Lysfs) duplication Likely pathogenic rs386834197 GRCh38 Chromosome 8, 93809061: 93809061

Expression for Meckel Syndrome, Type 3

Search GEO for disease gene expression data for Meckel Syndrome, Type 3.

Pathways for Meckel Syndrome, Type 3

GO Terms for Meckel Syndrome, Type 3

Cellular components related to Meckel Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
2 cytoskeleton GO:0005856 9.87 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
3 centrosome GO:0005813 9.8 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
4 cell projection GO:0042995 9.8 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
5 cilium GO:0005929 9.7 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
6 ciliary basal body GO:0036064 9.67 B9D2 CEP290 MKS1 RPGRIP1L
7 microtubule organizing center GO:0005815 9.65 CEP290 MKS1 RPGRIP1L
8 photoreceptor connecting cilium GO:0032391 9.61 CEP290 NPHP1 RPGRIP1L
9 bicellular tight junction GO:0005923 9.51 NPHP1 RPGRIP1L
10 MKS complex GO:0036038 9.35 B9D2 CC2D2A CEP290 MKS1 TMEM67
11 ciliary transition zone GO:0035869 9.1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
12 cytoplasm GO:0005737 10 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L

Biological processes related to Meckel Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.63 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
2 determination of left/right symmetry GO:0007368 9.5 CC2D2A MKS1 RPGRIP1L
3 neural tube closure GO:0001843 9.49 CC2D2A MKS1
4 camera-type eye development GO:0043010 9.48 CC2D2A RPGRIP1L
5 motile cilium assembly GO:0044458 9.46 CC2D2A MKS1
6 regulation of smoothened signaling pathway GO:0008589 9.43 MKS1 RPGRIP1L
7 non-motile cilium assembly GO:1905515 9.43 CC2D2A MKS1 RPGRIP1L
8 cell projection organization GO:0030030 9.43 B9D2 CC2D2A CEP290 MKS1 NPHP1 TMEM67
9 head development GO:0060322 9.4 MKS1 RPGRIP1L
10 embryonic brain development GO:1990403 9.37 CC2D2A MKS1
11 ciliary basal body-plasma membrane docking GO:0097711 9.17 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L

Sources for Meckel Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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