LDS2
MCID: LYS018
MIFTS: 42

Loeys-Dietz Syndrome 2 (LDS2)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 2

MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Name: Loeys-Dietz Syndrome 2 58 12 54 76 30 6 15
Marfan Syndrome Type 2 60 76 30 74
Lds2 58 12 76
Aat3 58 12 76
Aortic Aneurysm, Familial Thoracic 3 58 74
Loeys-Dietz Syndrome Type 2 54 74
Marfan Syndrome Type Ii 12 77
Mfs2 60 76
Aortic Aneurysm, Familial Thoracic 3; Aat3 58
Thoracic Aortic Aneurysms and Dissection 2 76
Familial Aortic Aneurysm Thoracic Type 3 76
Familial Throacic Aortic Aneurysm 3 12
Marfan Syndrome, Type Ii, Formerly 58
Syndrome, Loeys-Dietz, Type 2 41
Taad2 76

Characteristics:

Orphanet epidemiological data:

60
marfan syndrome type 2
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
uncommon and rare features seen in the most severely affected patients


HPO:

33
loeys-dietz syndrome 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot : 76 Loeys-Dietz syndrome 2: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit.

MalaCards based summary : Loeys-Dietz Syndrome 2, also known as marfan syndrome type 2, is related to loeys-dietz syndrome and subclavian artery aneurysm. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2). Affiliated tissues include skin, brain and spleen, and related phenotypes are hydrocephalus and intellectual disability

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.

Wikipedia : 77 Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

Description from OMIM: 610168

Related Diseases for Loeys-Dietz Syndrome 2

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 31.8 MYH11 TGFBR2 TMPO
2 subclavian artery aneurysm 9.9 MYH11 TGFBR2
3 marfan syndrome 9.9
4 loeys-dietz syndrome 3 9.9 MYH11 TGFBR2
5 aortic aneurysm, familial thoracic 1 9.9 MYH11 TGFBR2
6 aortic aneurysm 9.8 MYH11 TGFBR2
7 aortic disease 9.7 MYH11 TGFBR2
8 loeys-dietz syndrome 1 9.6 GPT2 MYH11 TGFBR2

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 2:



Diseases related to Loeys-Dietz Syndrome 2

Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

Human phenotypes related to Loeys-Dietz Syndrome 2:

33 (show all 49)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 occasional (7.5%) HP:0000238
2 intellectual disability 33 occasional (7.5%) HP:0001249
3 inguinal hernia 33 occasional (7.5%) HP:0000023
4 global developmental delay 33 occasional (7.5%) HP:0001263
5 umbilical hernia 33 occasional (7.5%) HP:0001537
6 osteoporosis 33 occasional (7.5%) HP:0000939
7 cleft palate 33 occasional (7.5%) HP:0000175
8 atrial septal defect 33 occasional (7.5%) HP:0001631
9 bicuspid aortic valve 33 occasional (7.5%) HP:0001647
10 mitral valve prolapse 33 occasional (7.5%) HP:0001634
11 arnold-chiari malformation 33 occasional (7.5%) HP:0002308
12 disproportionate tall stature 33 occasional (7.5%) HP:0001519
13 craniosynostosis 33 occasional (7.5%) HP:0001363
14 syndactyly 33 occasional (7.5%) HP:0001159
15 dilatation of the cerebral artery 33 occasional (7.5%) HP:0004944
16 absent distal phalanges 33 occasional (7.5%) HP:0005807
17 postaxial polydactyly 33 occasional (7.5%) HP:0100259
18 polydactyly 33 occasional (7.5%) HP:0010442
19 descending thoracic aorta aneurysm 33 occasional (7.5%) HP:0004959
20 bicuspid pulmonary valve 33 occasional (7.5%) HP:0005182
21 malar flattening 33 HP:0000272
22 hypertelorism 33 HP:0000316
23 pectus excavatum 33 HP:0000767
24 scoliosis 33 HP:0002650
25 pectus carinatum 33 HP:0000768
26 pes planus 33 HP:0001763
27 micrognathia 33 HP:0000347
28 retrognathia 33 HP:0000278
29 patent ductus arteriosus 33 HP:0001643
30 joint laxity 33 HP:0001388
31 talipes equinovarus 33 HP:0001762
32 striae distensae 33 HP:0001065
33 arachnodactyly 33 HP:0001166
34 spontaneous pneumothorax 33 HP:0002108
35 protrusio acetabuli 33 HP:0003179
36 spondylolisthesis 33 HP:0003302
37 ascending aortic dissection 33 HP:0004933
38 brachydactyly 33 HP:0001156
39 proptosis 33 HP:0000520
40 blue sclerae 33 HP:0000592
41 bifid uvula 33 HP:0000193
42 camptodactyly 33 HP:0012385
43 exotropia 33 HP:0000577
44 dermal translucency 33 HP:0010648
45 joint contracture of the hand 33 HP:0009473
46 pulmonary artery aneurysm 33 HP:0004937
47 ascending tubular aorta aneurysm 33 HP:0004970
48 generalized arterial tortuosity 33 HP:0004955
49 eosinophilic infiltration of the esophagus 33 HP:0410151

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

Skeletal:
joint laxity
osteoporosis (in some patients)
low-impact fractures (in some patients)

Skeletal Hands:
arachnodactyly
brachydactyly
camptodactyly
contractures
postaxial polydactyly (rare)
more
Neurologic Central Nervous System:
mental retardation (uncommon)
developmental delay (uncommon)
chiari malformation (uncommon)
hydrocephalus (uncommon)

Abdomen External Features:
umbilical hernia (rare)
inguinal hernia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Skin:
velvety texture
translucent skin

Skeletal Spine:
scoliosis

Cardiovascular Vascular:
patent ductus arteriosus
ascending aortic dissection
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
Skeletal Feet:
talipes equinovarus

Head And Neck Mouth:
bifid uvula
cleft palate (uncommon)

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Cardiovascular Heart:
atrial septal defect (uncommon)
mitral valve prolapse (uncommon)
bicuspid aortic valve (uncommon)
bicuspid pulmonary valve (rare)
quadricuspid pulmonary valve (rare)

Growth Other:
dolichostenomelia (uncommon)

Clinical features from OMIM:

610168

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.7 TGFBR2
2 Decreased viability GR00221-A-1 9.7 TGFBR2 TRIO ULK1
3 Decreased viability GR00221-A-2 9.7 TRIO
4 Decreased viability GR00221-A-3 9.7 TGFBR2
5 Decreased viability GR00221-A-4 9.7 TGFBR2 TRIO ULK1
6 Decreased viability GR00402-S-2 9.7 TGFBR2 TRIO ULK1
7 Decreased vesicular stomatitis virus (VSV) infection GR00356-A-1 8.96 TRIO ULK1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 GPT2 MYH11 TGFBR2 TMPO TRIO ULK1

Drugs & Therapeutics for Loeys-Dietz Syndrome 2

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 2

Genetic Tests for Loeys-Dietz Syndrome 2

Genetic tests related to Loeys-Dietz Syndrome 2:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 2 30
2 Marfan Syndrome Type 2 30

Anatomical Context for Loeys-Dietz Syndrome 2

MalaCards organs/tissues related to Loeys-Dietz Syndrome 2:

42
Skin, Brain, Spleen, Uterus, Bone, Eye

Publications for Loeys-Dietz Syndrome 2

Articles related to Loeys-Dietz Syndrome 2:

# Title Authors Year
1
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. ( 8946175 )
1996

Variations for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 2:

76 (show all 23)
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Leu308Pro VAR_022351 rs28934568
2 TGFBR2 p.Tyr336Asn VAR_022352 rs104893812
3 TGFBR2 p.Ala355Pro VAR_022353 rs104893813
4 TGFBR2 p.Gly357Trp VAR_022354 rs104893814
5 TGFBR2 p.Ser449Phe VAR_022358 rs104893807
6 TGFBR2 p.Arg528Cys VAR_022360 rs104893810
7 TGFBR2 p.Arg528His VAR_022361 rs104893815
8 TGFBR2 p.Arg537Cys VAR_022362 rs104893809
9 TGFBR2 p.Arg460Cys VAR_029760 rs104893811
10 TGFBR2 p.Arg460His VAR_029761 rs104893816
11 TGFBR2 p.His377Arg VAR_066724
12 TGFBR2 p.Asp446Asn VAR_066725 rs886039551
13 TGFBR2 p.Met457Lys VAR_066726
14 TGFBR2 p.Gly509Val VAR_066727 rs863223853
15 TGFBR2 p.Ile510Phe VAR_066728
16 TGFBR2 p.Ile510Ser VAR_066729
17 TGFBR2 p.Cys514Arg VAR_066730 rs193922664
18 TGFBR2 p.Trp521Arg VAR_066731
19 TGFBR2 p.Arg190His VAR_076167 rs780542125
20 TGFBR2 p.Asp247Val VAR_076168 rs761231369
21 TGFBR2 p.Thr325Pro VAR_076169
22 TGFBR2 p.Gly357Arg VAR_076170
23 TGFBR2 p.Thr530Ile VAR_076171

ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

6 (show top 50) (show all 169)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh37 Chromosome 3, 30713742: 30713742
2 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh38 Chromosome 3, 30672250: 30672250
3 TMPO NM_003276.2(TMPO): c.1309G> C (p.Val437Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145703021 GRCh37 Chromosome 12, 98927344: 98927344
4 TMPO NM_003276.2(TMPO): c.1309G> C (p.Val437Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145703021 GRCh38 Chromosome 12, 98533566: 98533566
5 TMPO NM_003276.2(TMPO): c.225G> A (p.Pro75=) single nucleotide variant Benign rs59027673 GRCh37 Chromosome 12, 98909870: 98909870
6 TMPO NM_003276.2(TMPO): c.225G> A (p.Pro75=) single nucleotide variant Benign rs59027673 GRCh38 Chromosome 12, 98516092: 98516092
7 TMPO NM_003276.2(TMPO): c.686C> T (p.Thr229Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138790561 GRCh37 Chromosome 12, 98926721: 98926721
8 TMPO NM_003276.2(TMPO): c.686C> T (p.Thr229Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138790561 GRCh38 Chromosome 12, 98532943: 98532943
9 TMPO NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs34301677 GRCh37 Chromosome 12, 98927464: 98927464
10 TMPO NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs34301677 GRCh38 Chromosome 12, 98533686: 98533686
11 TMPO NM_003276.2(TMPO): c.248C> T (p.Ala83Val) single nucleotide variant Uncertain significance rs730880228 GRCh38 Chromosome 12, 98516115: 98516115
12 TMPO NM_003276.2(TMPO): c.248C> T (p.Ala83Val) single nucleotide variant Uncertain significance rs730880228 GRCh37 Chromosome 12, 98909893: 98909893
13 TMPO NM_003276.2(TMPO): c.1066A> G (p.Lys356Glu) single nucleotide variant Uncertain significance rs730880229 GRCh38 Chromosome 12, 98533323: 98533323
14 TMPO NM_003276.2(TMPO): c.1066A> G (p.Lys356Glu) single nucleotide variant Uncertain significance rs730880229 GRCh37 Chromosome 12, 98927101: 98927101
15 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 GRCh38 Chromosome 12, 98533534: 98533534
16 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 GRCh37 Chromosome 12, 98927312: 98927312
17 TMPO NM_003276.2(TMPO): c.350A> G (p.Asn117Ser) single nucleotide variant Likely benign rs141387097 GRCh37 Chromosome 12, 98921734: 98921734
18 TMPO NM_003276.2(TMPO): c.350A> G (p.Asn117Ser) single nucleotide variant Likely benign rs141387097 GRCh38 Chromosome 12, 98527956: 98527956
19 TMPO NM_003276.2(TMPO): c.1198A> G (p.Met400Val) single nucleotide variant Uncertain significance rs771185259 GRCh37 Chromosome 12, 98927233: 98927233
20 TMPO NM_003276.2(TMPO): c.1198A> G (p.Met400Val) single nucleotide variant Uncertain significance rs771185259 GRCh38 Chromosome 12, 98533455: 98533455
21 TGFBR2 NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs863223852 GRCh38 Chromosome 3, 30688476: 30688476
22 TGFBR2 NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs863223852 GRCh37 Chromosome 3, 30729968: 30729968
23 TGFBR2 NM_003242.5(TGFBR2): c.1546A> T (p.Thr516Ser) single nucleotide variant Uncertain significance rs370708687 GRCh38 Chromosome 3, 30691441: 30691441
24 TGFBR2 NM_003242.5(TGFBR2): c.1546A> T (p.Thr516Ser) single nucleotide variant Uncertain significance rs370708687 GRCh37 Chromosome 3, 30732933: 30732933
25 TGFBR2 NM_003242.5(TGFBR2): c.1408T> G (p.Tyr470Asp) single nucleotide variant Pathogenic/Likely pathogenic rs863224935 GRCh37 Chromosome 3, 30729887: 30729887
26 TGFBR2 NM_003242.5(TGFBR2): c.1408T> G (p.Tyr470Asp) single nucleotide variant Pathogenic/Likely pathogenic rs863224935 GRCh38 Chromosome 3, 30688395: 30688395
27 TGFBR2 NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=) single nucleotide variant Pathogenic rs121918715 GRCh37 Chromosome 3, 30730003: 30730003
28 TGFBR2 NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=) single nucleotide variant Pathogenic rs121918715 GRCh38 Chromosome 3, 30688511: 30688511
29 TGFBR2 NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 GRCh37 Chromosome 3, 30713598: 30713598
30 TGFBR2 NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 GRCh38 Chromosome 3, 30672106: 30672106
31 TGFBR2 NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 GRCh37 Chromosome 3, 30715688: 30715688
32 TGFBR2 NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 GRCh38 Chromosome 3, 30674196: 30674196
33 TGFBR2 NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 GRCh37 Chromosome 3, 30732996: 30732996
34 TGFBR2 NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 GRCh38 Chromosome 3, 30691504: 30691504
35 TGFBR2 NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 GRCh37 Chromosome 3, 30713681: 30713681
36 TGFBR2 NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 GRCh38 Chromosome 3, 30672189: 30672189
37 TGFBR2 NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 GRCh37 Chromosome 3, 30713738: 30713738
38 TGFBR2 NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 GRCh38 Chromosome 3, 30672246: 30672246
39 TGFBR2 NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 GRCh37 Chromosome 3, 30713744: 30713744
40 TGFBR2 NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 GRCh38 Chromosome 3, 30672252: 30672252
41 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
42 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478
43 TGFBR2 NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 GRCh37 Chromosome 3, 30732969: 30732969
44 TGFBR2 NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 GRCh38 Chromosome 3, 30691477: 30691477
45 TGFBR2 TGFBR2, IVS1, A-G, -2 single nucleotide variant Pathogenic
46 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh37 Chromosome 3, 30715720: 30715720
47 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh38 Chromosome 3, 30674228: 30674228
48 TGFBR2 NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 GRCh37 Chromosome 3, 30715721: 30715721
49 TGFBR2 NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 GRCh38 Chromosome 3, 30674229: 30674229
50 TGFBR2 NM_001024847.2(TGFBR2): c.1472-2A> G single nucleotide variant Pathogenic rs587776770 GRCh37 Chromosome 3, 30729874: 30729874

Expression for Loeys-Dietz Syndrome 2

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 2.

Pathways for Loeys-Dietz Syndrome 2

GO Terms for Loeys-Dietz Syndrome 2

Biological processes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.33 TGFBR2 TRIO ULK1
2 peptidyl-serine phosphorylation GO:0018105 9.26 TGFBR2 ULK1
3 protein phosphorylation GO:0006468 9.13 TGFBR2 TRIO ULK1
4 peptidyl-threonine phosphorylation GO:0018107 8.62 TGFBR2 ULK1

Molecular functions related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 GPT2 TGFBR2 TRIO ULK1
2 kinase activity GO:0016301 9.5 TGFBR2 TRIO ULK1
3 protein kinase activity GO:0004672 9.33 TGFBR2 TRIO ULK1
4 ATP binding GO:0005524 9.26 MYH11 TGFBR2 TRIO ULK1
5 protein serine/threonine kinase activity GO:0004674 8.8 TGFBR2 TRIO ULK1

Sources for Loeys-Dietz Syndrome 2

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20 FMA
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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