NFNS
MCID: NRF008
MIFTS: 44

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 57 76 53 59 75 37 29 13 55 6 40 73
Nfns 57 53 59 75
Neurofibromatosis with Noonan Phenotype 57 53
Neurofibromatosis Type 1-Noonan Syndrome 59
Noonan-Neurofibromatosis Syndrome 57
Noonan Neurofibromatosis Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 and noonan syndrome


HPO:

32
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis-Noonan Syndrome

NIH Rare Diseases : 53 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 : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 abnormality of the helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0011039
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
7 abdominal wall muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009023
8 abnormality of the thorax 59 32 frequent (33%) Frequent (79-30%) HP:0000765
9 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
10 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
11 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
12 abnormality of the lymphatic system 59 32 frequent (33%) Frequent (79-30%) HP:0100763
13 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
14 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
15 multiple cafe-au-lait spots 59 32 hallmark (90%) Very frequent (99-80%) HP:0007565
16 prolonged bleeding time 59 32 frequent (33%) Frequent (79-30%) HP:0003010
17 pulmonic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001642
18 macrocephaly 32 HP:0000256
19 malar flattening 32 HP:0000272
20 low-set ears 32 HP:0000369
21 short neck 32 HP:0000470
22 muscle weakness 32 HP:0001324
23 scoliosis 32 HP:0002650
24 global developmental delay 32 HP:0001263
25 depressed nasal bridge 32 HP:0005280
26 delayed speech and language development 32 HP:0000750
27 epicanthus 32 HP:0000286
28 cubitus valgus 32 HP:0002967
29 low posterior hairline 32 HP:0002162
30 abnormality of the face 59 Very frequent (99-80%)
31 midface retrusion 32 HP:0011800
32 secundum atrial septal defect 32 HP:0001684
33 cafe-au-lait spot 32 HP:0000957
34 posteriorly rotated ears 32 HP:0000358
35 neurofibromas 32 HP:0001067
36 prominent nasolabial fold 32 HP:0005272
37 axillary freckling 32 HP:0000997
38 inguinal freckling 32 HP:0030052
39 lisch nodules 32 occasional (7.5%) HP:0009737
40 optic nerve glioma 32 HP:0009734
41 pectus excavatum of inferior sternum 32 HP:0000915
42 superior pectus carinatum 32 HP:0000917

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

46
# 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 29 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

41
Heart, Testes, Skin, Brain, Bone, Bone Marrow

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:

75
# 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_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
2 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
3 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
4 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh38 Chromosome 17, 31259074: 31259076
5 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh37 Chromosome 17, 29576122: 29576123
6 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh38 Chromosome 17, 31249104: 31249105
7 NF1 NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met) indel Pathogenic rs267606609 GRCh37 Chromosome 17, 29527496: 29527497
8 NF1 NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met) indel Pathogenic rs267606609 GRCh38 Chromosome 17, 31200478: 31200479
9 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
10 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh38 Chromosome 17, 31258401: 31258401
11 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh37 Chromosome 17, 29653037: 29653037
12 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh38 Chromosome 17, 31326019: 31326019
13 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh37 Chromosome 17, 29496957: 29496957
14 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh38 Chromosome 17, 31169939: 31169939
15 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh37 Chromosome 17, 29685632: 29685632
16 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh38 Chromosome 17, 31358614: 31358614
17 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh38 Chromosome 17, 31225182: 31225182
18 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh37 Chromosome 17, 29552200: 29552200
19 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh37 Chromosome 17, 29686024: 29686024
20 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh38 Chromosome 17, 31359006: 31359006
21 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh37 Chromosome 17, 29490255: 29490255
22 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh38 Chromosome 17, 31163237: 31163237
23 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh37 Chromosome 17, 29684006: 29684006
24 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh38 Chromosome 17, 31356988: 31356988
25 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh37 Chromosome 17, 29654761: 29654761
26 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh38 Chromosome 17, 31327743: 31327743
27 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
28 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
29 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
30 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
31 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
32 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
33 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
34 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
35 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
36 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
37 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh37 Chromosome 17, 29553485: 29553485
38 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh38 Chromosome 17, 31226467: 31226467
39 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh37 Chromosome 17, 29556177: 29556177
40 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh38 Chromosome 17, 31229159: 31229159
41 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh37 Chromosome 17, 29562948: 29562948
42 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh38 Chromosome 17, 31235930: 31235930
43 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh37 Chromosome 17, 29592271: 29592271
44 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh38 Chromosome 17, 31265253: 31265253
45 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh37 Chromosome 17, 29652853: 29652853
46 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh38 Chromosome 17, 31325835: 31325835
47 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh37 Chromosome 17, 29652884: 29652884
48 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh38 Chromosome 17, 31325866: 31325866
49 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh37 Chromosome 17, 29652931: 29652931
50 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh38 Chromosome 17, 31325913: 31325913

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:

37
# 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 MAP2K2 NF1 PTPN11
2 11.82 MAP2K2 PTPN11
3
Show member pathways
11.81 MAP2K2 PTPN11
4
Show member pathways
11.77 MAP2K2 PTPN11
5 11.74 MAP2K2 PTPN11
6
Show member pathways
11.71 MAP2K2 NF1
7
Show member pathways
11.69 MAP2K2 PTPN11
8
Show member pathways
11.58 MAP2K2 PTPN11
9 11.58 MAP2K2 NF1
10
Show member pathways
11.52 MAP2K2 NF1 PTPN11
11
Show member pathways
11.51 MAP2K2 PTPN11
12 11.49 MAP2K2 PTPN11
13
Show member pathways
11.43 MAP2K2 PTPN11
14
Show member pathways
11.24 MAP2K2 NF1
15 11.11 MAP2K2 NF1
16 11.08 MAP2K2 PTPN11
17 11.01 MAP2K2 PTPN11
18 10.97 MAP2K2 PTPN11
19
Show member pathways
10.88 MAP2K2 PTPN11
20 10.85 MAP2K2 NF1 PTPN11
21
Show member pathways
10.8 MAP2K2 PTPN11
22 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 ExPASy
19 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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