NFNS
MCID: NRF008
MIFTS: 43

Neurofibromatosis-Noonan Syndrome (NFNS)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

MalaCards integrated aliases for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 58 77 54 60 76 38 30 13 56 6 41 74
Nfns 58 54 60 76
Neurofibromatosis with Noonan Phenotype 58 54
Neurofibromatosis Type 1-Noonan Syndrome 60
Noonan-Neurofibromatosis Syndrome 58
Noonan Neurofibromatosis Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 and noonan syndrome


HPO:

33
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis-Noonan Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 638Disease definitionNeurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).Visit the Orphanet disease page for more resources.

MalaCards based summary : Neurofibromatosis-Noonan Syndrome, also known as nfns, is related to noonan syndrome 1 and leopard syndrome. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Ras signaling pathway and MAPK signaling pathway. Affiliated tissues include heart, testes and skin, and related phenotypes are hypertelorism and ptosis

UniProtKB/Swiss-Prot : 76 Neurofibromatosis-Noonan syndrome: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.

Wikipedia : 77 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Description from OMIM: 601321

Related Diseases for Neurofibromatosis-Noonan Syndrome

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



Diseases related to Neurofibromatosis-Noonan Syndrome

Symptoms & Phenotypes for Neurofibromatosis-Noonan Syndrome

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 very rare (1%) Very frequent (99-80%) HP:0000316
2 ptosis 60 33 very rare (1%) Very frequent (99-80%) HP:0000508
3 abnormality of the helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0011039
4 short stature 60 33 very rare (1%) Very frequent (99-80%) HP:0004322
5 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
6 abdominal wall muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009023
7 webbed neck 60 33 very rare (1%) Very frequent (99-80%) HP:0000465
8 specific learning disability 60 33 very rare (1%) Very frequent (99-80%) HP:0001328
9 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
10 downslanted palpebral fissures 60 33 very rare (1%) Very frequent (99-80%) HP:0000494
11 multiple cafe-au-lait spots 60 33 very rare (1%) Very frequent (99-80%) HP:0007565
12 pulmonic stenosis 60 33 very rare (1%) Very frequent (99-80%) HP:0001642
13 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
14 abnormality of the thorax 60 33 frequent (33%) Frequent (79-30%) HP:0000765
15 cryptorchidism 60 33 very rare (1%) Frequent (79-30%) HP:0000028
16 abnormality of the lymphatic system 60 33 frequent (33%) Frequent (79-30%) HP:0100763
17 prolonged bleeding time 60 33 frequent (33%) Frequent (79-30%) HP:0003010
18 macrocephaly 33 very rare (1%) HP:0000256
19 malar flattening 33 very rare (1%) HP:0000272
20 low-set ears 33 very rare (1%) HP:0000369
21 pectus excavatum 33 very rare (1%) HP:0000767
22 intellectual disability 33 very rare (1%) HP:0001249
23 scoliosis 33 very rare (1%) HP:0002650
24 thick vermilion border 33 very rare (1%) HP:0012471
25 epicanthus 33 very rare (1%) HP:0000286
26 cubitus valgus 33 very rare (1%) HP:0002967
27 low posterior hairline 33 very rare (1%) HP:0002162
28 neuroblastoma 33 very rare (1%) HP:0003006
29 posteriorly rotated ears 33 very rare (1%) HP:0000358
30 plexiform neurofibroma 33 very rare (1%) HP:0009732
31 axillary freckling 33 very rare (1%) HP:0000997
32 lisch nodules 33 very rare (1%) HP:0009737
33 optic nerve glioma 33 very rare (1%) HP:0009734
34 short neck 33 HP:0000470
35 muscle weakness 33 HP:0001324
36 global developmental delay 33 HP:0001263
37 depressed nasal bridge 33 HP:0005280
38 delayed speech and language development 33 HP:0000750
39 abnormality of the face 60 Very frequent (99-80%)
40 midface retrusion 33 HP:0011800
41 secundum atrial septal defect 33 HP:0001684
42 prominent nasolabial fold 33 HP:0005272
43 inguinal freckling 33 HP:0030052
44 superior pectus carinatum 33 HP:0000917

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
scoliosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline
frontal upsweep of the hair

Skin Nails Hair Skin:
neurofibromas
cafe-au-lait spots
axillary freckling
inguinal freckling

Head And Neck Face:
midface hypoplasia
prominent nasolabial folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum superiorly
pectus excavatum inferiorly

Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds
lisch nodules

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus

Cardiovascular Heart:
pulmonic stenosis

Neoplasia:
neurofibromas
optic glioma
low incidence of plexiform neurofibromas

Neurologic Central Nervous System:
speech delay
developmental delay, mild
articulation defects
unidentified bright objects seen on brain mri

Head And Neck Nose:
low nasal root

Clinical features from OMIM:

601321

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 MAP2K2 NF1 PTPN11

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

Search Clinical Trials , NIH Clinical Center for Neurofibromatosis-Noonan Syndrome

Genetic Tests for Neurofibromatosis-Noonan Syndrome

Genetic tests related to Neurofibromatosis-Noonan Syndrome:

# Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome 30 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

42
Heart, Testes, Skin, Brain

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 21)
# Title Authors Year
1
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. ( 28971455 )
2017
2
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. ( 26758488 )
2016
3
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome. ( 24357598 )
2013
4
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. ( 22965773 )
2012
5
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. ( 21549079 )
2011
6
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. ( 19449407 )
2009
7
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. ( 15948193 )
2005
8
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. ( 16380919 )
2005
9
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. ( 15356469 )
2004
10
Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). ( 12707950 )
2003
11
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. ( 11013475 )
2000
12
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. ( 10206464 )
1999
13
Neurofibromatosis-Noonan syndrome. ( 9475594 )
1998
14
Neurofibromatosis-Noonan syndrome. ( 7501563 )
1995
15
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. ( 8135279 )
1993
16
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? ( 1348094 )
1992
17
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. ( 2518512 )
1989
18
Vertical transmission of the neurofibromatosis/Noonan syndrome. ( 3105315 )
1987
19
Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. ( 3105316 )
1987
20
The neurofibromatosis-Noonan syndrome. ( 3927726 )
1985
21
The neurofibromatosis-Noonan syndrome. ( 3927725 )
1985

Variations for Neurofibromatosis-Noonan Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 NF1 p.Lys1444Glu VAR_002659 rs137854550
2 NF1 p.Leu194Arg VAR_032462 rs199474753
3 NF1 p.Asn1451Thr VAR_032475 rs199474754
4 NF1 p.Val1453Leu VAR_032476 rs199474755
5 NF1 p.Leu1411Phe VAR_065236 rs199474789

ClinVar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

6 (show top 50) (show all 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
2 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
3 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
4 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
5 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
6 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
7 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
8 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
9 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
10 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
11 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh38 Chromosome 17, 31226467: 31226467
12 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh37 Chromosome 17, 29553485: 29553485
13 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh38 Chromosome 17, 31229159: 31229159
14 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh37 Chromosome 17, 29556177: 29556177
15 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh37 Chromosome 17, 29562948: 29562948
16 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh38 Chromosome 17, 31235930: 31235930
17 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh37 Chromosome 17, 29592271: 29592271
18 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh38 Chromosome 17, 31265253: 31265253
19 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh38 Chromosome 17, 31325835: 31325835
20 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh37 Chromosome 17, 29652853: 29652853
21 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh38 Chromosome 17, 31325866: 31325866
22 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh37 Chromosome 17, 29652884: 29652884
23 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh38 Chromosome 17, 31325913: 31325913
24 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh37 Chromosome 17, 29652931: 29652931
25 NF1 NM_001042492.2(NF1): c.6393C> T (p.His2131=) single nucleotide variant Benign/Likely benign rs17881788 GRCh38 Chromosome 17, 31336880: 31336880
26 NF1 NM_001042492.2(NF1): c.6393C> T (p.His2131=) single nucleotide variant Benign/Likely benign rs17881788 GRCh37 Chromosome 17, 29663898: 29663898
27 NF1 NM_001042492.2(NF1): c.6555G> A (p.Arg2185=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 GRCh37 Chromosome 17, 29664513: 29664513
28 NF1 NM_001042492.2(NF1): c.6555G> A (p.Arg2185=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 GRCh38 Chromosome 17, 31337495: 31337495
29 NF1 NM_001042492.2(NF1): c.7026G> A (p.Leu2342=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 GRCh38 Chromosome 17, 31340609: 31340609
30 NF1 NM_001042492.2(NF1): c.7026G> A (p.Leu2342=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 GRCh37 Chromosome 17, 29667627: 29667627
31 NF1 NM_001042492.2(NF1): c.7213A> G (p.Ile2405Val) single nucleotide variant Uncertain significance rs565708398 GRCh37 Chromosome 17, 29676161: 29676161
32 NF1 NM_001042492.2(NF1): c.7213A> G (p.Ile2405Val) single nucleotide variant Uncertain significance rs565708398 GRCh38 Chromosome 17, 31349143: 31349143
33 NF1 NM_001042492.2(NF1): c.7246C> T (p.Leu2416=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 GRCh38 Chromosome 17, 31349176: 31349176
34 NF1 NM_001042492.2(NF1): c.7246C> T (p.Leu2416=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 GRCh37 Chromosome 17, 29676194: 29676194
35 NF1 NM_001042492.2(NF1): c.7755C> T (p.Ser2585=) single nucleotide variant Benign/Likely benign rs17881980 GRCh38 Chromosome 17, 31356976: 31356976
36 NF1 NM_001042492.2(NF1): c.7755C> T (p.Ser2585=) single nucleotide variant Benign/Likely benign rs17881980 GRCh37 Chromosome 17, 29683994: 29683994
37 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh38 Chromosome 17, 31357308: 31357308
38 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh37 Chromosome 17, 29684326: 29684326
39 NF1 NM_001042492.2(NF1): c.8499T> C (p.Asn2833=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 GRCh37 Chromosome 17, 29701152: 29701152
40 NF1 NM_001042492.2(NF1): c.8499T> C (p.Asn2833=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 GRCh38 Chromosome 17, 31374134: 31374134
41 NF1 NM_001042492.2(NF1): c.*4T> C single nucleotide variant Benign/Likely benign rs201044568 GRCh37 Chromosome 17, 29701177: 29701177
42 NF1 NM_001042492.2(NF1): c.*4T> C single nucleotide variant Benign/Likely benign rs201044568 GRCh38 Chromosome 17, 31374159: 31374159
43 NF1 NM_000267.3(NF1): c.7807-8C> A single nucleotide variant Uncertain significance rs372441422 GRCh37 Chromosome 17, 29684279: 29684279
44 NF1 NM_000267.3(NF1): c.7807-8C> A single nucleotide variant Uncertain significance rs372441422 GRCh38 Chromosome 17, 31357261: 31357261
45 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
46 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
47 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
48 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh38 Chromosome 17, 31259074: 31259076
49 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh37 Chromosome 17, 29576122: 29576123
50 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh38 Chromosome 17, 31249104: 31249105

Expression for Neurofibromatosis-Noonan Syndrome

Search GEO for disease gene expression data for Neurofibromatosis-Noonan Syndrome.

Pathways for Neurofibromatosis-Noonan Syndrome

Pathways related to Neurofibromatosis-Noonan Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Ras signaling pathway hsa04014
2 MAPK signaling pathway hsa04010

Pathways related to Neurofibromatosis-Noonan Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 MAP2K2 NF1 PTPN11
2 11.81 MAP2K2 PTPN11
3
Show member pathways
11.79 MAP2K2 PTPN11
4
Show member pathways
11.75 MAP2K2 PTPN11
5 11.73 MAP2K2 PTPN11
6
Show member pathways
11.69 MAP2K2 NF1
7
Show member pathways
11.67 MAP2K2 PTPN11
8
Show member pathways
11.56 MAP2K2 PTPN11
9 11.56 MAP2K2 NF1
10
Show member pathways
11.52 MAP2K2 NF1 PTPN11
11
Show member pathways
11.48 MAP2K2 PTPN11
12 11.47 MAP2K2 PTPN11
13 11.11 MAP2K2 NF1
14 11.08 MAP2K2 PTPN11
15 11.01 MAP2K2 PTPN11
16 10.97 MAP2K2 PTPN11
17
Show member pathways
10.88 MAP2K2 PTPN11
18 10.85 MAP2K2 NF1 PTPN11
19
Show member pathways
10.8 MAP2K2 PTPN11
20 10.67 MAP2K2 PTPN11

GO Terms for Neurofibromatosis-Noonan Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 8.62 MAP2K2 PTPN11

Sources for Neurofibromatosis-Noonan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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