NSLL
MCID: NNN022
MIFTS: 43

Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia (NSLL)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Noonan Syndrome-Like Disorder with or Without Juvenile...

MalaCards integrated aliases for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

Name: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 57 72 29 6 70
Cbl Syndrome 57 58 36
Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia 58 6
Nsll 57 72
Noonan Syndrome-Like Disorder with Jmml 58
Cbl Mutation-Associated Syndrome 57

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

31
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Noonan Syndrome-Like Disorder with or Without Juvenile...

OMIM® : 57 Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010). (613563) (Updated 20-May-2021)

MalaCards based summary : Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia, also known as cbl syndrome, is related to juvenile myelomonocytic leukemia and jacobsen syndrome. An important gene associated with Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia is CBL (Cbl Proto-Oncogene), and among its related pathways/superpathways are ErbB signaling pathway and Endocytosis. Affiliated tissues include myeloid and heart, and related phenotypes are short stature and lymphedema

KEGG : 36 CBL is a ubiquitously expressed E3 ubiquitin ligase that negatively regulates intracellular signalling downstream of receptor tyrosine kinases. Missense CBL mutations cause impaired growth, developmental delay, and cryptorchidism resembling Noonan syndrome. In addition, patients have distinctive facial features, cardiovascular malformation, cerebellar vermis hypoplasia, and predisposition to juvenile myelomonocytic leukaemia.

UniProtKB/Swiss-Prot : 72 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia: A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia.

Related Diseases for Noonan Syndrome-Like Disorder with or Without Juvenile...

Diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 juvenile myelomonocytic leukemia 27.8 PTPN11 MCAM KIFC2 FRA11B FOXH1 CBL
2 jacobsen syndrome 9.9 FRA11B CBL
3 myelodysplastic/myeloproliferative neoplasm 9.8 PTPN11 CBL
4 attention deficit-hyperactivity disorder 9.8
5 noonan syndrome 1 9.8
6 costello syndrome 9.8
7 leukemia, acute myeloid 9.8
8 rasopathy 9.8
9 leukemia 9.8
10 thrombocytopenia 9.8
11 myeloid leukemia 9.8
12 neurofibromatosis 9.8
13 pseudo-turner syndrome 9.8
14 splenomegaly 9.8
15 aggressive systemic mastocytosis 9.7 PTPN11 CBL
16 b-lymphoblastic leukemia/lymphoma 9.6 PTPN11 CBL

Graphical network of the top 20 diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:



Diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia

Symptoms & Phenotypes for Noonan Syndrome-Like Disorder with or Without Juvenile...

Human phenotypes related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 lymphedema 31 occasional (7.5%) HP:0001004
3 polyhydramnios 31 occasional (7.5%) HP:0001561
4 chylothorax 31 occasional (7.5%) HP:0010310
5 frontal bossing 31 HP:0002007
6 ptosis 31 HP:0000508
7 short neck 31 HP:0000470
8 global developmental delay 31 HP:0001263
9 depressed nasal bridge 31 HP:0005280
10 hypertelorism 31 HP:0000316
11 macrotia 31 HP:0000400
12 delayed speech and language development 31 HP:0000750
13 thick vermilion border 31 HP:0012471
14 cryptorchidism 31 HP:0000028
15 cubitus valgus 31 HP:0002967
16 wide intermamillary distance 31 HP:0006610
17 low-set ears 31 HP:0000369
18 webbed neck 31 HP:0000465
19 epicanthus 31 HP:0000286
20 pectus excavatum 31 HP:0000767
21 bicuspid aortic valve 31 HP:0001647
22 joint laxity 31 HP:0001388
23 mitral regurgitation 31 HP:0001653
24 joint hypermobility 31 HP:0001382
25 downslanted palpebral fissures 31 HP:0000494
26 long philtrum 31 HP:0000343
27 deep philtrum 31 HP:0002002
28 fine hair 31 HP:0002213
29 triangular face 31 HP:0000325
30 sparse hair 31 HP:0008070
31 posteriorly rotated ears 31 HP:0000358
32 aortic valve stenosis 31 HP:0001650
33 cafe-au-lait spot 31 HP:0000957
34 generalized hypotonia 31 HP:0001290
35 juvenile myelomonocytic leukemia 31 HP:0012209

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
long philtrum
triangular face

Head And Neck Neck:
short neck
webbed neck

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
large ears

Skeletal:
joint laxity

Head And Neck Mouth:
thick lips

Cardiovascular Heart:
aortic stenosis
congenital heart defects
mitral insufficiency

Growth Height:
short stature (in some patients)

Skin Nails Hair Hair:
thin hair

Cardiovascular Vascular:
chylothorax (in some patients)

Neoplasia:
increased susceptibility to juvenile myelomonocytic leukemia

Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures

Head And Neck Nose:
depressed nasal bridge

Skeletal Limbs:
cubitus valgus

Chest External Features:
pectus excavatum

Muscle Soft Tissue:
hypotonia

Chest Breasts:
widely spaced nipples

Neurologic Central Nervous System:
language delay
delayed psychomotor development, mild

Skin Nails Hair Skin:
cafe-au-lait spots
lymphedema (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)
fetal hydrops (in some patients)

Respiratory Lung:
pleural effusions due to chylothorax (in some patients)

Clinical features from OMIM®:

613563 (Updated 20-May-2021)

Drugs & Therapeutics for Noonan Syndrome-Like Disorder with or Without Juvenile...

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia

Genetic Tests for Noonan Syndrome-Like Disorder with or Without Juvenile...

Genetic tests related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

# Genetic test Affiliating Genes
1 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 29 CBL

Anatomical Context for Noonan Syndrome-Like Disorder with or Without Juvenile...

MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

40
Myeloid, Heart

Publications for Noonan Syndrome-Like Disorder with or Without Juvenile...

Articles related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

(show all 11)
# Title Authors PMID Year
1
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 61 6 57
25358541 2015
2
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 6 57
20543203 2010
3
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 57 6
20694012 2010
4
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 57 6
20619386 2010
5
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 6 57
19571318 2009
6
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. 6
28589114 2017
7
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. 6
25939664 2015
8
In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia. 6
23823657 2013
9
Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias. 6
18698078 2008
10
A case of splenomegaly in CBL syndrome. 61
28414188 2017
11
Advanced epithelial ovarian carcinoma in Thai women: should we continue to offer second-look laparotomy? 61
11759976 2001

Variations for Noonan Syndrome-Like Disorder with or Without Juvenile...

ClinVar genetic disease variations for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

6 (show top 50) (show all 269)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBL CBL, IVS8AS, A-G, -2 SNV Pathogenic 29821 GRCh37:
GRCh38:
2 CBL NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) SNV Pathogenic 29822 rs387906664 GRCh37: 11:119148930-119148930
GRCh38: 11:119278220-119278220
3 CBL NM_005188.3(CBL):c.1186T>C (p.Cys396Arg) SNV Pathogenic 29823 rs387906665 GRCh37: 11:119148966-119148966
GRCh38: 11:119278256-119278256
4 CBL NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) SNV Pathogenic 13807 rs267606704 GRCh37: 11:119148880-119148880
GRCh38: 11:119278170-119278170
5 CBL NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) SNV Pathogenic 13808 rs267606705 GRCh37: 11:119148924-119148924
GRCh38: 11:119278214-119278214
6 CBL NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) SNV Pathogenic 13809 rs267606707 GRCh37: 11:119148948-119148948
GRCh38: 11:119278238-119278238
7 CBL NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) SNV Pathogenic 13810 rs267606708 GRCh37: 11:119149251-119149251
GRCh38: 11:119278541-119278541
8 CBL NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) SNV Pathogenic 29824 rs387906666 GRCh37: 11:119148892-119148892
GRCh38: 11:119278182-119278182
9 CBL NM_005188.3(CBL):c.1111T>C (p.Tyr371His) SNV Pathogenic 13811 rs267606706 GRCh37: 11:119148891-119148891
GRCh38: 11:119278181-119278181
10 CBL NM_005188.4(CBL):c.1096-2A>T SNV Pathogenic 689750 rs1592400784 GRCh37: 11:119148874-119148874
GRCh38: 11:119278164-119278164
11 CBL NM_005188.4(CBL):c.1096-1G>C SNV Pathogenic 45196 rs397517076 GRCh37: 11:119148875-119148875
GRCh38: 11:119278165-119278165
12 CBL NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) SNV Pathogenic 13807 rs267606704 GRCh37: 11:119148880-119148880
GRCh38: 11:119278170-119278170
13 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
14 CBL NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) SNV Pathogenic/Likely pathogenic 548022 rs387906666 GRCh37: 11:119148892-119148892
GRCh38: 11:119278182-119278182
15 CBL NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) SNV Likely pathogenic 179116 rs727504640 GRCh37: 11:119156089-119156089
GRCh38: 11:119285379-119285379
16 CBL NM_005188.3(CBL):c.306T>G (p.Tyr102Ter) SNV Likely pathogenic 40401 rs397507489 GRCh37: 11:119103268-119103268
GRCh38: 11:119232558-119232558
17 CBL NM_005188.3(CBL):c.1169A>T (p.Asp390Val) SNV Likely pathogenic 561499 rs763058208 GRCh37: 11:119148949-119148949
GRCh38: 11:119278239-119278239
18 CBL NM_005188.4(CBL):c.1247G>C (p.Cys416Ser) SNV Likely pathogenic 975833 GRCh37: 11:119149239-119149239
GRCh38: 11:119278529-119278529
19 CBL NM_005188.3(CBL):c.1096-4_1096-1del Deletion Likely pathogenic 45197 rs397517077 GRCh37: 11:119148872-119148875
GRCh38: 11:119278162-119278165
20 CBL NM_005188.3(CBL):c.1463C>T (p.Ala488Val) SNV Uncertain significance 120247 rs377502790 GRCh37: 11:119155710-119155710
GRCh38: 11:119285000-119285000
21 CBL , MCAM NM_005188.3(CBL):c.*6980T>C SNV Uncertain significance 302893 rs886047808 GRCh37: 11:119177471-119177471
GRCh38: 11:119306761-119306761
22 CBL NM_005188.3(CBL):c.*3437C>T SNV Uncertain significance 302836 rs774175986 GRCh37: 11:119173928-119173928
GRCh38: 11:119303218-119303218
23 CBL NM_005188.3(CBL):c.1776C>T (p.Pro592=) SNV Uncertain significance 302783 rs886047769 GRCh37: 11:119156111-119156111
GRCh38: 11:119285401-119285401
24 CBL NM_005188.3(CBL):c.*4818C>T SNV Uncertain significance 302853 rs886047794 GRCh37: 11:119175309-119175309
GRCh38: 11:119304599-119304599
25 CBL NM_005188.3(CBL):c.*1884C>T SNV Uncertain significance 302813 rs772494648 GRCh37: 11:119172375-119172375
GRCh38: 11:119301665-119301665
26 CBL NM_005188.3(CBL):c.-79C>T SNV Uncertain significance 302773 rs886047767 GRCh37: 11:119077049-119077049
GRCh38: 11:119206339-119206339
27 CBL NM_005188.3(CBL):c.*615C>T SNV Uncertain significance 302796 rs769151797 GRCh37: 11:119171106-119171106
GRCh38: 11:119300396-119300396
28 CBL , FRA11B NM_005188.3(CBL):c.-113C>T SNV Uncertain significance 302770 rs886047766 GRCh37: 11:119077015-119077015
GRCh38: 11:119206305-119206305
29 CBL NM_005188.3(CBL):c.*5860T>C SNV Uncertain significance 302873 rs886047801 GRCh37: 11:119176351-119176351
GRCh38: 11:119305641-119305641
30 CBL NM_005188.3(CBL):c.*5183C>T SNV Uncertain significance 302865 rs376394251 GRCh37: 11:119175674-119175674
GRCh38: 11:119304964-119304964
31 CBL NM_005188.3(CBL):c.1967G>A (p.Gly656Asp) SNV Uncertain significance 302784 rs886047770 GRCh37: 11:119158587-119158587
GRCh38: 11:119287877-119287877
32 CBL , MCAM NM_005188.3(CBL):c.*6175A>G SNV Uncertain significance 302882 rs775450592 GRCh37: 11:119176666-119176666
GRCh38: 11:119305956-119305956
33 CBL , MCAM NM_005188.3(CBL):c.*6430G>C SNV Uncertain significance 302885 rs886047806 GRCh37: 11:119176921-119176921
GRCh38: 11:119306211-119306211
34 CBL NM_005188.3(CBL):c.*2224A>G SNV Uncertain significance 302822 rs550910545 GRCh37: 11:119172715-119172715
GRCh38: 11:119302005-119302005
35 CBL NM_005188.3(CBL):c.852C>T (p.Phe284=) SNV Uncertain significance 302777 rs745855639 GRCh37: 11:119145646-119145646
GRCh38: 11:119274936-119274936
36 CBL NM_005188.3(CBL):c.*3714C>T SNV Uncertain significance 302839 rs886047790 GRCh37: 11:119174205-119174205
GRCh38: 11:119303495-119303495
37 CBL , MCAM NM_005188.3(CBL):c.*7659C>G SNV Uncertain significance 302905 rs567049953 GRCh37: 11:119178150-119178150
GRCh38: 11:119307440-119307440
38 CBL NM_005188.3(CBL):c.*4959C>T SNV Uncertain significance 302859 rs886047797 GRCh37: 11:119175450-119175450
GRCh38: 11:119304740-119304740
39 CBL NM_005188.3(CBL):c.*950G>T SNV Uncertain significance 302799 rs886047775 GRCh37: 11:119171441-119171441
GRCh38: 11:119300731-119300731
40 CBL NM_005188.3(CBL):c.*4177C>T SNV Uncertain significance 302848 rs886047792 GRCh37: 11:119174668-119174668
GRCh38: 11:119303958-119303958
41 CBL , MCAM NM_005188.3(CBL):c.*7081T>G SNV Uncertain significance 302894 rs886047809 GRCh37: 11:119177572-119177572
GRCh38: 11:119306862-119306862
42 CBL NM_005188.3(CBL):c.*1487A>G SNV Uncertain significance 302805 rs780157945 GRCh37: 11:119171978-119171978
GRCh38: 11:119301268-119301268
43 CBL NM_005188.3(CBL):c.*282C>G SNV Uncertain significance 302791 rs886047773 GRCh37: 11:119170773-119170773
GRCh38: 11:119300063-119300063
44 CBL NM_005188.3(CBL):c.*4390C>G SNV Uncertain significance 302851 rs886047793 GRCh37: 11:119174881-119174881
GRCh38: 11:119304171-119304171
45 CBL NM_005188.3(CBL):c.*1733T>G SNV Uncertain significance 302811 rs190569484 GRCh37: 11:119172224-119172224
GRCh38: 11:119301514-119301514
46 CBL NM_005188.3(CBL):c.*3026C>T SNV Uncertain significance 302828 rs886047786 GRCh37: 11:119173517-119173517
GRCh38: 11:119302807-119302807
47 CBL , MCAM NM_005188.3(CBL):c.*6767C>G SNV Uncertain significance 302891 rs539341635 GRCh37: 11:119177258-119177258
GRCh38: 11:119306548-119306548
48 CBL , FRA11B NM_005188.3(CBL):c.-124G>T SNV Uncertain significance 302768 rs886047764 GRCh37: 11:119077004-119077004
GRCh38: 11:119206294-119206294
49 CBL NM_005188.3(CBL):c.*5885A>G SNV Uncertain significance 302874 rs148553071 GRCh37: 11:119176376-119176376
GRCh38: 11:119305666-119305666
50 CBL NM_005188.3(CBL):c.*3272T>C SNV Uncertain significance 302834 rs148606028 GRCh37: 11:119173763-119173763
GRCh38: 11:119303053-119303053

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

72
# Symbol AA change Variation ID SNP ID
1 CBL p.Gln367Pro VAR_064332 rs267606704
2 CBL p.Lys382Glu VAR_064333 rs267606705
3 CBL p.Asp390Tyr VAR_064334 rs267606707
4 CBL p.Arg420Gln VAR_064335 rs267606708

Expression for Noonan Syndrome-Like Disorder with or Without Juvenile...

Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia.

Pathways for Noonan Syndrome-Like Disorder with or Without Juvenile...

Pathways related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to KEGG:

36
# Name Kegg Source Accession
1 ErbB signaling pathway hsa04012
2 Endocytosis hsa04144

Pathways related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 PTPN11 CBL
2
Show member pathways
11.53 PTPN11 CBL
3
Show member pathways
11.46 PTPN11 CBL
4
Show member pathways
11.42 PTPN11 CBL
5
Show member pathways
11.2 PTPN11 CBL
6 11.14 PTPN11 CBL
7 11.1 PTPN11 CBL
8 10.99 PTPN11 CBL
9 10.92 PTPN11 CBL
10 10.82 PTPN11 FOXH1
11
Show member pathways
10.64 PTPN11 CBL
12 10.59 PTPN11 CBL

GO Terms for Noonan Syndrome-Like Disorder with or Without Juvenile...

Biological processes related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.37 FOXH1 CBL
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.32 PTPN11 CBL
3 cellular response to cytokine stimulus GO:0071345 9.26 PTPN11 FOXH1
4 epidermal growth factor receptor signaling pathway GO:0007173 9.16 PTPN11 CBL
5 cellular response to epidermal growth factor stimulus GO:0071364 8.96 PTPN11 CBL
6 interleukin-6-mediated signaling pathway GO:0070102 8.62 PTPN11 CBL

Molecular functions related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 9.16 PTPN11 CBL
2 phosphotyrosine residue binding GO:0001784 8.96 PTPN11 CBL
3 protein tyrosine kinase binding GO:1990782 8.62 PTPN11 CBL

Sources for Noonan Syndrome-Like Disorder with or Without Juvenile...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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