NS4
MCID: NNN011
MIFTS: 44

Noonan Syndrome 4 (NS4)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome 4

Summaries for Noonan Syndrome 4

UniProtKB/Swiss-Prot : 73 Noonan syndrome 4: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis.

MalaCards based summary : Noonan Syndrome 4, also known as ns4, is related to cryoglobulinemia and noonan syndrome 1. An important gene associated with Noonan Syndrome 4 is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are TCR signaling in naive CD4+ T cells and ATP/ITP metabolism. Affiliated tissues include heart, skin and eye, and related phenotypes are prolonged bleeding time and depressed nasal bridge

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the SOS1 gene on chromosome 2p22.

More information from OMIM: 610733 PS163950

Related Diseases for Noonan Syndrome 4

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10 Noonan Syndrome 11
Noonan Syndrome 12

Diseases related to Noonan Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 cryoglobulinemia 30.3 IFNL3 IFNA1 CD81
2 noonan syndrome 1 29.4 SOS1 PDE6B KANSL2 IFNA1 CD8A CD4
3 hepatitis c virus 10.8
4 hepatitis c 10.6
5 otomycosis 10.5 POLR2B BDNF-AS
6 cork-handlers' disease 10.5 CD8A CD4
7 penicilliosis 10.5 POLR2B CD4
8 spastic monoplegia 10.5 RD3 PDE6B
9 ventilation pneumonitis 10.5 CD8A CD4
10 diffuse infiltrative lymphocytosis syndrome 10.5 CD8A CD4
11 diabetes mellitus, insulin-dependent, 23 10.5 CD8A CD4
12 autoimmune lymphoproliferative syndrome, type iia 10.5 CD8A CD4
13 early yaws 10.5 CD8A CD4
14 bird fancier's lung 10.5 CD8A CD4
15 phaeohyphomycosis 10.5 POLR2B BDNF-AS
16 dermatomycosis 10.5 POLR2B CD4
17 parapsoriasis 10.5 CD8A CD4
18 norwegian scabies 10.5 CD8A CD4
19 asymptomatic neurosyphilis 10.5 ITPA CD4
20 variola major 10.5 CD8A CD4
21 tertiary neurosyphilis 10.5 ITPA CD4
22 follicular mucinosis 10.5 CD8A CD4
23 white piedra 10.5 POLR2B POLR2A
24 tertiary syphilis 10.5 CD8A CD4
25 spongiotic dermatitis 10.5 CD8A CD4
26 wissler-fanconi syndrome 10.5 IFNA1 CD4
27 acute retinal necrosis syndrome 10.4 CD8A CD4
28 invasive malignant thymoma 10.4 CD8A CD4
29 metal allergy 10.4 CD8A CD4
30 cerebritis 10.4 CD8A CD4
31 granulomatous hepatitis 10.4 CD8A CD4
32 otitis externa 10.4 POLR2B BDNF-AS
33 external ear disease 10.4 POLR2B BDNF-AS
34 acute interstitial pneumonia 10.4 CD8A CD4
35 noonan syndrome 8 10.4 PYDC1 POLR2B BDNF-AS
36 oral hairy leukoplakia 10.4 CD8A CD4
37 fusariosis 10.4 POLR2B POLR2A
38 secondary syphilis 10.4 CD8A CD4
39 glanders 10.4 CD8A CD4
40 miliary tuberculosis 10.4 PDE6B CD8A CD4
41 cowpox 10.4 PRODH CD8A CD4
42 tularemia 10.4 PDE6B CD8A CD4
43 parotid disease 10.4 CD8A CD4
44 nickel allergic contact dermatitis 10.4 CD8A CD4
45 central nervous system vasculitis 10.4 MEG8 CD8A CD4
46 stomach disease 10.4 PRODH CD8A CD4
47 west nile encephalitis 10.3 ITPA CD8A CD4
48 chediak-higashi syndrome 10.3 PRODH CD8A CD4
49 west nile fever 10.3 CD8A CD4
50 common wart 10.3 IFNA1 CD4

Graphical network of the top 20 diseases related to Noonan Syndrome 4:



Diseases related to Noonan Syndrome 4

Symptoms & Phenotypes for Noonan Syndrome 4

Human phenotypes related to Noonan Syndrome 4:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 prolonged bleeding time 31 occasional (7.5%) HP:0003010
2 depressed nasal bridge 31 HP:0005280
3 hypertelorism 31 HP:0000316
4 short neck 31 HP:0000470
5 scoliosis 31 HP:0002650
6 macrocephaly 31 HP:0000256
7 dental malocclusion 31 HP:0000689
8 short stature 31 HP:0004322
9 hypertrophic cardiomyopathy 31 HP:0001639
10 thick lower lip vermilion 31 HP:0000179
11 cryptorchidism 31 HP:0000028
12 cubitus valgus 31 HP:0002967
13 wide intermamillary distance 31 HP:0006610
14 webbed neck 31 HP:0000465
15 epicanthus 31 HP:0000286
16 ptosis 31 HP:0000508
17 blue irides 31 HP:0000635
18 downslanted palpebral fissures 31 HP:0000494
19 low-set, posteriorly rotated ears 31 HP:0000368
20 ventricular septal defect 31 HP:0001629
21 pulmonic stenosis 31 HP:0001642
22 high anterior hairline 31 HP:0009890
23 curly hair 31 HP:0002212
24 keratosis pilaris 31 HP:0032152
25 sparse and thin eyebrow 31 HP:0000535
26 pectus excavatum of inferior sternum 31 HP:0000915

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds
blue eyes
more
Skeletal Spine:
scoliosis

Head And Neck Teeth:
dental malocclusion

Cardiovascular Heart:
hypertrophic cardiomyopathy
pulmonic stenosis
congenital heart defect
ventricular septal defects

Skeletal Limbs:
cubitus valgus
blunt fingertips
polyarticular villonodular synovitis in knees, ankles, wrists, and/or elbows (in some patients)

Skin Nails Hair Skin:
keratosis pilaris
ectodermal symptoms

Chest Breasts:
widely spaced nipples

Head And Neck Ears:
low-set posteriorly rotated ears

Neoplasia:
multiple giant cell granulomas (bones, joints, soft tissues)

Hematology:
prolonged bleeding time (less common)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Head:
macrocephaly

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
high anterior hairline
curly hair
sparse eyebrows

Head And Neck Mouth:
thick lips

Head And Neck Nose:
flat nasal bridge

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum inferiorly

Neurologic Central Nervous System:
mild cognitive impairment (less common)

Laboratory Abnormalities:
partial deficiency of factor xi (less common)
partial deficiency of factor xiii (less common)

Clinical features from OMIM:

610733

Drugs & Therapeutics for Noonan Syndrome 4

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 4

Genetic Tests for Noonan Syndrome 4

Genetic tests related to Noonan Syndrome 4:

# Genetic test Affiliating Genes
1 Noonan Syndrome 4 29 SOS1

Anatomical Context for Noonan Syndrome 4

MalaCards organs/tissues related to Noonan Syndrome 4:

40
Heart, Skin, Eye, Bone

Publications for Noonan Syndrome 4

Articles related to Noonan Syndrome 4:

(show all 11)
# Title Authors PMID Year
1
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 6 56
19438935 2009
2
Clinical and molecular characterization of 40 patients with Noonan syndrome. 6 56
18678287 2008
3
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. 56 6
18925667 2008
4
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 56 6
17143282 2007
5
Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 56 6
17143285 2007
6
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
7
Noonan syndrome: clinical features, diagnosis, and management guidelines. 6
20876176 2010
8
Leopard syndrome. 6
18505544 2008
9
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 56
17586837 2007
10
Noonan Syndrome 6
20301303 2001
11
[The neurofibromatosis-Noonan syndrome: 4 cases]. 61
8210104 1993

Variations for Noonan Syndrome 4

ClinVar genetic disease variations for Noonan Syndrome 4:

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys)SNV Pathogenic 12869 rs137852812 2:39278352-39278352 2:39051211-39051211
2 SOS1 NM_005633.3(SOS1):c.806T>G (p.Met269Arg)SNV Pathogenic 12870 rs137852813 2:39278343-39278343 2:39051202-39051202
3 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly)SNV Pathogenic 12871 rs137852814 2:39249915-39249915 2:39022774-39022774
4 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser)SNV Pathogenic 12872 rs267607079 2:39249913-39249913 2:39022772-39022772
5 SOS1 NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg)SNV Pathogenic 12873 rs267607080 2:39250275-39250275 2:39023134-39023134
6 SOS1 NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg)SNV Pathogenic 40678 rs397517149 2:39249927-39249927 2:39022786-39022786
7 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys)SNV Pathogenic 40683 rs397517154 2:39249914-39249914 2:39022773-39022773
8 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser)SNV Pathogenic 40684 rs267607079 2:39249913-39249913 2:39022772-39022772
9 SOS1 NM_005633.3(SOS1):c.806T>C (p.Met269Thr)SNV Pathogenic 40662 rs137852813 2:39278343-39278343 2:39051202-39051202
10 SOS1 NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys)SNV Pathogenic 40706 rs397517159 2:39234309-39234309 2:39007168-39007168
11 SOS1 NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile)SNV Pathogenic/Likely pathogenic 40699 rs397517156 2:39239474-39239474 2:39012333-39012333
12 SOS1 NM_005633.3(SOS1):c.3269C>T (p.Pro1090Leu)SNV Conflicting interpretations of pathogenicity 40722 rs730881034 2:39222341-39222341 2:38995200-38995200
13 SOS1 NM_005633.3(SOS1):c.864+12A>CSNV Conflicting interpretations of pathogenicity 561344 rs374379005 2:39278273-39278273 2:39051132-39051132
14 SOS1 NM_005633.3(SOS1):c.675T>G (p.Val225=)SNV Conflicting interpretations of pathogenicity 416921 rs371482290 2:39281800-39281800 2:39054659-39054659
15 SOS1 NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys)SNV Conflicting interpretations of pathogenicity 45357 rs202043599 2:39224178-39224178 2:38997037-38997037
16 SOS1 NM_005633.3(SOS1):c.929G>A (p.Arg310His)SNV Conflicting interpretations of pathogenicity 45381 rs143481916 2:39262577-39262577 2:39035436-39035436
17 SOS1 NM_005633.3(SOS1):c.587C>T (p.Ser196Leu)SNV Conflicting interpretations of pathogenicity 229263 rs199898869 2:39281888-39281888 2:39054747-39054747
18 SOS1 NM_005633.3(SOS1):c.3585A>G (p.Arg1195=)SNV Conflicting interpretations of pathogenicity 139229 rs587781173 2:39213382-39213382 2:38986241-38986241
19 SOS1 NM_005633.3(SOS1):c.*1309A>GSNV Conflicting interpretations of pathogenicity 335997 rs145273962 2:39211656-39211656 2:38984515-38984515
20 SOS1 NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala)SNV Conflicting interpretations of pathogenicity 336015 rs371408734 2:39213258-39213258 2:38986117-38986117
21 SOS1 NM_005633.3(SOS1):c.*758A>TSNV Conflicting interpretations of pathogenicity 336005 rs182650589 2:39212207-39212207 2:38985066-38985066
22 SOS1 NM_005633.3(SOS1):c.*3451A>TSNV Conflicting interpretations of pathogenicity 335975 rs78411167 2:39209514-39209514 2:38982373-38982373
23 SOS1 NM_005633.3(SOS1):c.3347-3C>TSNV Conflicting interpretations of pathogenicity 336017 rs779326746 2:39216458-39216458 2:38989317-38989317
24 SOS1 NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser)SNV Uncertain significance 336018 rs886056024 2:39233555-39233555 2:39006414-39006414
25 SOS1 NM_005633.3(SOS1):c.5A>T (p.Gln2Leu)SNV Uncertain significance 336023 rs886056026 2:39347559-39347559 2:39120418-39120418
26 SOS1 NM_005633.3(SOS1):c.*223C>TSNV Uncertain significance 336013 rs886056022 2:39212742-39212742 2:38985601-38985601
27 SOS1 NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala)SNV Uncertain significance 336014 rs886056023 2:39213174-39213174 2:38986033-38986033
28 SOS1 NM_005633.3(SOS1):c.*3727G>CSNV Uncertain significance 335968 rs886056004 2:39209238-39209238 2:38982097-38982097
29 SOS1 NM_005633.3(SOS1):c.*3463A>GSNV Uncertain significance 335974 rs886056006 2:39209502-39209502 2:38982361-38982361
30 SOS1 NM_005633.3(SOS1):c.*642T>CSNV Uncertain significance 336007 rs886056019 2:39212323-39212323 2:38985182-38985182
31 SOS1 NM_005633.3(SOS1):c.3624T>C (p.Pro1208=)SNV Uncertain significance 336016 rs763107563 2:39213343-39213343 2:38986202-38986202
32 SOS1 NM_005633.3(SOS1):c.2121T>C (p.Asp707=)SNV Uncertain significance 336019 rs571408451 2:39240647-39240647 2:39013506-39013506
33 SOS1 NM_005633.3(SOS1):c.*4110C>ASNV Uncertain significance 335965 rs886056003 2:39208855-39208855 2:38981714-38981714
34 SOS1 NM_005633.3(SOS1):c.*4023T>CSNV Uncertain significance 335966 rs1043800 2:39208942-39208942 2:38981801-38981801
35 SOS1 NM_005633.3(SOS1):c.*2497G>ASNV Uncertain significance 335981 rs886056008 2:39210468-39210468 2:38983327-38983327
36 SOS1 NM_005633.3(SOS1):c.*544C>TSNV Uncertain significance 336008 rs886056020 2:39212421-39212421 2:38985280-38985280
37 SOS1 NM_005633.3(SOS1):c.*534C>TSNV Uncertain significance 336009 rs773935049 2:39212431-39212431 2:38985290-38985290
38 SOS1 NM_005633.3(SOS1):c.*1684G>CSNV Uncertain significance 335990 rs886056012 2:39211281-39211281 2:38984140-38984140
39 SOS1 NM_005633.3(SOS1):c.*1385A>GSNV Uncertain significance 335995 rs868000333 2:39211580-39211580 2:38984439-38984439
40 SOS1 NM_005633.3(SOS1):c.*909G>ASNV Uncertain significance 336001 rs147219108 2:39212056-39212056 2:38984915-38984915
41 SOS1 NM_005633.3(SOS1):c.1659G>A (p.Met553Ile)SNV Uncertain significance 336020 rs886056025 2:39249910-39249910 2:39022769-39022769
42 SOS1 NM_005633.3(SOS1):c.*1303C>ASNV Uncertain significance 335998 rs115153488 2:39211662-39211662 2:38984521-38984521
43 SOS1 NM_005633.3(SOS1):c.*1589T>GSNV Uncertain significance 335992 rs886056014 2:39211376-39211376 2:38984235-38984235
44 SOS1 NM_005633.3(SOS1):c.865-4T>CSNV Uncertain significance 336022 rs750788947 2:39262645-39262645 2:39035504-39035504
45 SOS1 NM_005633.3(SOS1):c.*2218T>ASNV Uncertain significance 335983 rs886056009 2:39210747-39210747 2:38983606-38983606
46 SOS1 NM_005633.3(SOS1):c.*1678C>ASNV Uncertain significance 335991 rs886056013 2:39211287-39211287 2:38984146-38984146
47 SOS1 NM_005633.3(SOS1):c.*1224A>GSNV Uncertain significance 335999 rs886056015 2:39211741-39211741 2:38984600-38984600
48 SOS1 NM_005633.3(SOS1):c.*855G>ASNV Uncertain significance 336002 rs886056017 2:39212110-39212110 2:38984969-38984969
49 SOS1 NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr)SNV Uncertain significance 279934 rs146722878 2:39249995-39249995 2:39022854-39022854
50 SOS1 NM_005633.3(SOS1):c.487A>G (p.Lys163Glu)SNV Uncertain significance 281652 rs886042206 2:39283866-39283866 2:39056725-39056725

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 4:

73 (show all 37)
# Symbol AA change Variation ID SNP ID
1 SOS1 p.Glu108Lys VAR_030423 rs397517164
2 SOS1 p.Thr266Lys VAR_030424 rs137852812
3 SOS1 p.Met269Arg VAR_030425 rs137852813
4 SOS1 p.Asp309Tyr VAR_030426 rs397517180
5 SOS1 p.Tyr337Cys VAR_030427 rs724160007
6 SOS1 p.Trp432Arg VAR_030428 rs267607080
7 SOS1 p.Glu433Lys VAR_030429 rs397517147
8 SOS1 p.Gly434Arg VAR_030430 rs397517148
9 SOS1 p.Cys441Tyr VAR_030431 rs727504295
10 SOS1 p.Ser548Arg VAR_030432 rs397517149
11 SOS1 p.Leu550Pro VAR_030433 rs397517153
12 SOS1 p.Arg552Gly VAR_030434 rs137852814
13 SOS1 p.Arg552Lys VAR_030435 rs397517154
14 SOS1 p.Arg552Ser VAR_030436 rs267607079
15 SOS1 p.Tyr702His VAR_030438 rs727505381
16 SOS1 p.Trp729Leu VAR_030439
17 SOS1 p.Ile733Phe VAR_030440 rs574088829
18 SOS1 p.Glu846Lys VAR_030441 rs397517159
19 SOS1 p.Met269Thr VAR_064504 rs137852813
20 SOS1 p.Gln477Arg VAR_064505 rs730881044
21 SOS1 p.Arg497Gln VAR_064506 rs371314838
22 SOS1 p.Pro102Arg VAR_066032 rs155336293
23 SOS1 p.Pro112Arg VAR_066033 rs397517166
24 SOS1 p.Lys170Glu VAR_066034 rs397517172
25 SOS1 p.Ile252Thr VAR_066035 rs142094234
26 SOS1 p.Met422Val VAR_066037
27 SOS1 p.Glu424Lys VAR_066038 rs730881041
28 SOS1 p.Gly434Lys VAR_066041 rs730881048
29 SOS1 p.Ile437Thr VAR_066042 rs397517150
30 SOS1 p.Pro478Arg VAR_066044
31 SOS1 p.Gly482Arg VAR_066045 rs143157438
32 SOS1 p.Leu490Arg VAR_066046
33 SOS1 p.Thr549Lys VAR_066047 rs730881046
34 SOS1 p.Arg552Met VAR_066048 rs397517154
35 SOS1 p.Arg552Thr VAR_066049 rs397517154
36 SOS1 p.Phe623Ile VAR_066052
37 SOS1 p.Pro894Arg VAR_066055 rs136771475

Expression for Noonan Syndrome 4

Search GEO for disease gene expression data for Noonan Syndrome 4.

Pathways for Noonan Syndrome 4

Pathways related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 SOS1 CD8A CD4
2 11.06 POLR2B POLR2A ITPA
3 10.26 POLR2B POLR2A ASZ1

GO Terms for Noonan Syndrome 4

Cellular components related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II, core complex GO:0005665 8.96 POLR2B POLR2A
2 photoreceptor outer segment GO:0001750 8.8 RD3 PRPH2 PDE6B

Biological processes related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.26 SOS1 IFNL3 IFNA1 CD4
2 retina development in camera-type eye GO:0060041 8.8 RD3 PRPH2 PDE6B

Molecular functions related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II protein binding GO:0042289 8.62 CD81 CD4

Sources for Noonan Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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