MCID: PRX021
MIFTS: 50

Proximal Symphalangism

Categories: Rare diseases, Bone diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Proximal Symphalangism

MalaCards integrated aliases for Proximal Symphalangism:

Name: Proximal Symphalangism 12 53 59 29 6 15
Symphalangism, Proximal 13 55 40 73
Cushing's Symphalangism 12 53
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 53
Hereditary Absence of Proximal Interphalangeal Joints 53
Strasburger-Hawkins-Eldridge Syndrome 53
Symphalangism, Proximal, 1a 53
Symphalangism, Proximal, 1b 53
Symphalangism, Cushing Type 59
Vessel’s Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
proximal symphalangism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050788
Orphanet 59 ORPHA3250
UMLS via Orphanet 74 C1861385
MESH via Orphanet 45 C536223
ICD10 via Orphanet 34 Q70.9
UMLS 73 C1861385

Summaries for Proximal Symphalangism

NIH Rare Diseases : 53 Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 gene.

MalaCards based summary : Proximal Symphalangism, also known as symphalangism, proximal, is related to brachydactyly, type c and tarsal-carpal coalition syndrome. An important gene associated with Proximal Symphalangism is NOG (Noggin), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and strabismus

Disease Ontology : 12 An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

Related Diseases for Proximal Symphalangism

Diseases in the Proximal Symphalangism family:

Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b

Diseases related to Proximal Symphalangism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type c 30.6 BMPR1B GDF5
2 tarsal-carpal coalition syndrome 29.7 NOG ROR2 YIPF2
3 brachydactyly 28.8 BMP2 BMPR1B GDF5 NOG ROR2
4 symphalangism, proximal, 1b 12.6
5 symphalangism, proximal, 1a 12.5
6 lenz-majewski hyperostotic dwarfism 11.0
7 symphalangism with multiple anomalies of hands and feet 11.0
8 multiple synostoses syndrome 1 11.0
9 mesomelia-synostoses syndrome 11.0
10 brachydactyly, type b1 10.6 NOG ROR2
11 acromesomelic dysplasia, hunter-thompson type 10.5 BMPR1B GDF5
12 chondrodysplasia, grebe type 10.5 BMPR1B GDF5
13 acromesomelic dysplasia 10.4 BMPR1B GDF5
14 spondylolysis 10.4 BMP7 GDF5
15 brachydactyly, type a1 10.3 BMPR1B GDF5
16 fibular hypoplasia and complex brachydactyly 10.3 BMPR1B GDF5 NOG
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
18 fibrodysplasia ossificans progressiva 10.1 BMP4 NOG
19 fibrochondrogenesis 10.1 BMP2 BMP4
20 premature ovarian failure 1 10.0
21 brachydactyly, type a2 10.0 BMP2 BMPR1B GDF5
22 ossification of the posterior longitudinal ligament of spine 10.0 BMP2 BMP4
23 ankylosis 9.9 BMP2 BMP4 NOG
24 osteochondroma 9.9 BMP2 BMPR1B FGF9
25 otosclerosis 9.9 BMP2 BMP4 NOG
26 spondylolisthesis 9.9 BMP2 BMP7 GDF5
27 bone deterioration disease 9.9 BMP2 BMP7 GDF5
28 synostosis 9.9
29 bullous keratopathy 9.9 BMP2 BMP4
30 bone structure disease 9.9 BMP2 BMP7 GDF5
31 craniosynostosis 9.9 BMP2 FGF9 NOG
32 degenerative disc disease 9.6 BMP2 GDF5
33 synovial chondromatosis 9.6 BMP2 BMP4 FGF9 NOG
34 osseous heteroplasia, progressive 9.5 BMP2 BMP4 BMP7 NOG
35 multiple synostoses syndrome 6.6 BMP4 BMPR1B CSF1R FGF9 GDF5 NOG

Graphical network of the top 20 diseases related to Proximal Symphalangism:



Diseases related to Proximal Symphalangism

Symptoms & Phenotypes for Proximal Symphalangism

Human phenotypes related to Proximal Symphalangism:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
2 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
4 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
5 elbow ankylosis 59 32 frequent (33%) Frequent (79-30%) HP:0003070
6 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
7 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
8 metacarpophalangeal synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0005880
9 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
10 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
11 proximal symphalangism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100264
12 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
13 abnormality of the metacarpal bones 59 Frequent (79-30%)
14 abnormality of the wrist 59 Occasional (29-5%)
15 finger clinodactyly 59 Frequent (79-30%)

GenomeRNAi Phenotypes related to Proximal Symphalangism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell viability after pRB stimulation GR00230-A-1 8.8 BMPR1B CSF1R ROR2

MGI Mouse Phenotypes related to Proximal Symphalangism:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 BMP7 BMP2 BMPR1B BMP4 WNT2 GDF5
2 cellular MP:0005384 10.14 BMP4 BMP2 BMPR1B WNT2 ROR2 CSF1R
3 craniofacial MP:0005382 10.13 CSF1R BMP7 BMP2 BMP4 BMPR1B NOG
4 embryo MP:0005380 10.1 BMP7 BMP2 BMPR1B BMP4 WNT2 NOG
5 cardiovascular system MP:0005385 10.09 BMP4 BMP2 BMP7 WNT2 ROR2 NOG
6 mortality/aging MP:0010768 10.07 BMP7 BMP2 BMPR1B BMP4 WNT2 GDF5
7 limbs/digits/tail MP:0005371 10.06 CSF1R BMP7 BMP2 BMP4 BMPR1B NOG
8 endocrine/exocrine gland MP:0005379 10.02 BMP4 BMP7 BMPR1B CSF1R NOG FGF9
9 digestive/alimentary MP:0005381 9.99 BMP7 BMP2 BMP4 NOG FGF9 ROR2
10 hearing/vestibular/ear MP:0005377 9.98 CSF1R BMP7 BMP2 BMP4 NOG FGF9
11 reproductive system MP:0005389 9.91 CSF1R BMP7 BMP2 BMPR1B BMP4 NOG
12 normal MP:0002873 9.87 BMP7 BMP2 BMPR1B BMP4 CSF1R NOG
13 respiratory system MP:0005388 9.63 BMP7 BMP4 WNT2 NOG FGF9 ROR2
14 skeleton MP:0005390 9.61 BMP7 BMP2 BMPR1B BMP4 GDF5 CSF1R
15 vision/eye MP:0005391 9.1 BMPR1B BMP4 BMP7 ROR2 NOG FGF9

Drugs & Therapeutics for Proximal Symphalangism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Proximal Symphalangism

Genetic Tests for Proximal Symphalangism

Genetic tests related to Proximal Symphalangism:

# Genetic test Affiliating Genes
1 Proximal Symphalangism 29 NOG

Anatomical Context for Proximal Symphalangism

MalaCards organs/tissues related to Proximal Symphalangism:

41
Bone

Publications for Proximal Symphalangism

Articles related to Proximal Symphalangism:

(show all 20)
# Title Authors Year
1
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism. ( 29371961 )
2017
2
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. ( 28032038 )
2016
3
A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family. ( 25888563 )
2015
4
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss. ( 24735539 )
2014
5
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. ( 24326127 )
2014
6
Foot anomalies and proximal symphalangism. ( 22294466 )
2012
7
Proximal symphalangism and premature ovarian failure. ( 22088931 )
2012
8
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. ( 21358557 )
2011
9
Cushing proximal symphalangism and the NOG and GDF5 genes. ( 17994231 )
2008
10
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. ( 18283415 )
2008
11
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. ( 15066478 )
2004
12
Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism. ( 14753748 )
2004
13
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. ( 11846737 )
2001
14
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. ( 11545688 )
2001
15
Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome? ( 11169566 )
2001
16
Proximal symphalangism associated with conductive hearing loss. ( 14635304 )
2000
17
Proximal symphalangism and congenital conductive hearing loss: otologic aspects. ( 10337976 )
1999
18
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. ( 7557985 )
1995
19
Stapes fixation a proximal symphalangism. ( 5440467 )
1970
20
Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an European--Indonesian--Chinese family. ( 5633139 )
1967

Variations for Proximal Symphalangism

ClinVar genetic disease variations for Proximal Symphalangism:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.665A> G (p.Tyr222Cys) single nucleotide variant Pathogenic rs104894602 GRCh37 Chromosome 17, 54672249: 54672249
2 NOG NM_005450.4(NOG): c.665A> G (p.Tyr222Cys) single nucleotide variant Pathogenic rs104894602 GRCh38 Chromosome 17, 56594888: 56594888
3 NOG NM_005450.4(NOG): c.664T> G (p.Tyr222Asp) single nucleotide variant Pathogenic rs121908948 GRCh37 Chromosome 17, 54672248: 54672248
4 NOG NM_005450.4(NOG): c.664T> G (p.Tyr222Asp) single nucleotide variant Pathogenic rs121908948 GRCh38 Chromosome 17, 56594887: 56594887
5 NOG NM_005450.4(NOG): c.668C> T (p.Pro223Leu) single nucleotide variant Pathogenic rs104894608 GRCh37 Chromosome 17, 54672252: 54672252
6 NOG NM_005450.4(NOG): c.668C> T (p.Pro223Leu) single nucleotide variant Pathogenic rs104894608 GRCh38 Chromosome 17, 56594891: 56594891
7 NOG NM_005450.4(NOG): c.565G> T (p.Gly189Cys) single nucleotide variant Pathogenic rs104894609 GRCh37 Chromosome 17, 54672149: 54672149
8 NOG NM_005450.4(NOG): c.565G> T (p.Gly189Cys) single nucleotide variant Pathogenic rs104894609 GRCh38 Chromosome 17, 56594788: 56594788
9 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh37 Chromosome 17, 54671688: 54671688
10 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh38 Chromosome 17, 56594327: 56594327
11 NOG NM_005450.4(NOG): c.551G> A (p.Cys184Tyr) single nucleotide variant Pathogenic rs104894612 GRCh37 Chromosome 17, 54672135: 54672135
12 NOG NM_005450.4(NOG): c.551G> A (p.Cys184Tyr) single nucleotide variant Pathogenic rs104894612 GRCh38 Chromosome 17, 56594774: 56594774
13 NOG NM_005450.4(NOG): c.386T> A (p.Leu129Ter) single nucleotide variant Pathogenic rs104894613 GRCh37 Chromosome 17, 54671970: 54671970
14 NOG NM_005450.4(NOG): c.386T> A (p.Leu129Ter) single nucleotide variant Pathogenic rs104894613 GRCh38 Chromosome 17, 56594609: 56594609
15 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
16 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326

Expression for Proximal Symphalangism

Search GEO for disease gene expression data for Proximal Symphalangism.

Pathways for Proximal Symphalangism

Pathways related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 BMP2 BMP4 BMP7 BMPR1B CSF1R GDF5
2
Show member pathways
13.52 BMP2 BMP4 BMP7 CSF1R FGF9 GDF5
3
Show member pathways
13.46 BMP2 BMP4 BMP7 BMPR1B CSF1R GDF5
4
Show member pathways
13.37 BMP2 BMP4 BMP7 CSF1R GDF5 ROR2
5
Show member pathways
13.28 BMP2 BMP4 BMP7 CSF1R FGF9 GDF5
6
Show member pathways
13.17 BMP2 BMP4 BMP7 BMPR1B CSF1R GDF5
7
Show member pathways
13.12 BMP2 BMP4 BMP7 CSF1R GDF5 ROR2
8
Show member pathways
13.08 BMP2 BMP4 BMP7 BMPR1B CSF1R GDF5
9
Show member pathways
13.05 BMP2 BMP4 BMP7 CSF1R GDF5 ROR2
10
Show member pathways
12.85 BMP2 BMP4 BMP7 CSF1R GDF5
11 12.64 BMP2 BMP4 CSF1R FGF9 WNT2
12
Show member pathways
12.57 BMP2 BMP4 BMP7 GDF5
13
Show member pathways
12.52 BMP2 BMP4 BMP7 GDF5
14
Show member pathways
12.31 BMP2 BMP4 BMP7 BMPR1B
15
Show member pathways
12.24 BMP2 BMP4 BMP7 BMPR1B NOG WNT2
16
Show member pathways
11.98 BMP2 BMP4 WNT2
17 11.93 BMP4 BMPR1B WNT2
18
Show member pathways
11.9 BMP2 BMP4 BMP7 GDF5
19 11.89 BMP2 BMP4 BMP7
20 11.89 BMP4 NOG WNT2
21 11.82 BMP2 BMP4 BMP7 BMPR1B GDF5 WNT2
22
Show member pathways
11.57 BMP2 BMP4 BMP7 GDF5
23
Show member pathways
11.53 BMP2 BMP7 BMPR1B NOG
24 11.41 BMP4 NOG ROR2
25 11.08 ROR2 WNT2
26 11.03 BMP4 CSF1R GDF5 NOG WNT2
27 11.02 BMP2 BMP4 BMP7 BMPR1B GDF5 NOG
28 11.01 BMP2 BMP4 BMP7
29 10.9 BMP2 BMP4 BMP7 BMPR1B

GO Terms for Proximal Symphalangism

Cellular components related to Proximal Symphalangism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 BMP2 BMP4 BMP7 FGF9 GDF5 NOG
2 receptor complex GO:0043235 9.33 BMPR1B CSF1R ROR2
3 extracellular region GO:0005576 9.23 BMP2 BMP4 BMP7 FGF9 GDF5 NOG

Biological processes related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.98 BMP2 BMP4 CSF1R ROR2
2 negative regulation of gene expression GO:0010629 9.95 BMP2 BMP4 NOG
3 axon guidance GO:0007411 9.94 BMP7 CSF1R NOG
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.93 BMP2 NOG ROR2
5 peptidyl-tyrosine phosphorylation GO:0018108 9.93 CSF1R FGF9 ROR2
6 positive regulation of protein phosphorylation GO:0001934 9.93 BMP2 BMP4 CSF1R
7 positive regulation of MAPK cascade GO:0043410 9.93 BMP2 CSF1R FGF9 ROR2
8 positive regulation of canonical Wnt signaling pathway GO:0090263 9.92 FGF9 ROR2 WNT2
9 osteoblast differentiation GO:0001649 9.91 BMP2 BMP4 FGF9 NOG
10 lung development GO:0030324 9.9 BMP4 FGF9 WNT2
11 ossification GO:0001503 9.9 BMP2 BMP4 BMP7
12 positive regulation of neuron differentiation GO:0045666 9.9 BMP2 BMP4 BMP7 GDF5
13 positive regulation of endothelial cell proliferation GO:0001938 9.88 BMP2 BMP4 WNT2
14 cell fate commitment GO:0045165 9.88 BMP2 BMP4 ROR2 WNT2
15 positive regulation of epithelial cell proliferation GO:0050679 9.87 BMP4 FGF9 NOG
16 embryonic digit morphogenesis GO:0042733 9.87 BMP4 NOG ROR2
17 odontogenesis of dentin-containing tooth GO:0042475 9.87 BMP2 BMP4 BMP7
18 cellular response to growth factor stimulus GO:0071363 9.86 BMP2 BMP4 BMPR1B
19 cell development GO:0048468 9.86 BMP2 BMP4 BMP7 GDF5
20 positive regulation of epithelial to mesenchymal transition GO:0010718 9.85 BMP2 BMP4 BMP7
21 negative regulation of cell cycle GO:0045786 9.85 BMP2 BMP4 BMP7
22 regulation of MAPK cascade GO:0043408 9.85 BMP2 BMP4 BMP7 GDF5
23 ureteric bud development GO:0001657 9.84 BMP4 BMP7 NOG
24 positive regulation of osteoblast differentiation GO:0045669 9.84 BMP2 BMP4 BMP7 BMPR1B
25 epithelial to mesenchymal transition GO:0001837 9.83 BMP2 BMP7 NOG
26 embryonic skeletal system development GO:0048706 9.82 BMP4 FGF9 NOG
27 eye development GO:0001654 9.81 BMP7 BMPR1B FGF9
28 embryonic limb morphogenesis GO:0030326 9.81 BMP4 BMP7 FGF9 GDF5
29 mesoderm formation GO:0001707 9.8 BMP4 BMP7 NOG
30 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 BMP2 BMP4 BMP7 GDF5
31 skeletal system development GO:0001501 9.8 BMP2 BMP4 BMP7 BMPR1B NOG ROR2
32 anatomical structure formation involved in morphogenesis GO:0048646 9.79 BMP4 BMP7 NOG
33 positive regulation of cell differentiation GO:0045597 9.78 BMP2 BMP4 BMP7 BMPR1B
34 positive regulation of cardiac muscle cell proliferation GO:0060045 9.77 FGF9 WNT2
35 bone mineralization GO:0030282 9.77 BMP2 ROR2
36 metanephros development GO:0001656 9.77 BMP4 BMP7
37 positive regulation of BMP signaling pathway GO:0030513 9.77 BMP4 GDF5
38 protein localization to nucleus GO:0034504 9.77 BMP4 BMP7
39 positive regulation of cartilage development GO:0061036 9.77 BMP2 BMP4 BMPR1B
40 SMAD protein signal transduction GO:0060395 9.77 BMP2 BMP4 BMP7 GDF5 ROR2
41 endoderm development GO:0007492 9.76 BMP4 NOG
42 pituitary gland development GO:0021983 9.76 BMP4 NOG
43 branching morphogenesis of an epithelial tube GO:0048754 9.76 BMP4 BMP7
44 cardiac muscle cell differentiation GO:0055007 9.76 BMP2 BMP4
45 telencephalon development GO:0021537 9.76 BMP2 BMP4
46 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 FGF9 WNT2
47 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.75 BMP2 BMP4
48 camera-type eye morphogenesis GO:0048593 9.75 BMP4 BMP7
49 lung morphogenesis GO:0060425 9.75 BMP4 NOG
50 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.75 BMPR1B GDF5

Molecular functions related to Proximal Symphalangism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.65 BMP2 BMP4 BMP7 GDF5 WNT2
2 protein tyrosine kinase activity GO:0004713 9.61 CSF1R FGF9 ROR2
3 heparin binding GO:0008201 9.58 BMP4 BMP7 FGF9
4 frizzled binding GO:0005109 9.46 ROR2 WNT2
5 cytokine binding GO:0019955 9.37 CSF1R NOG
6 growth factor activity GO:0008083 9.35 BMP2 BMP4 BMP7 FGF9 GDF5
7 BMP receptor binding GO:0070700 9.33 BMP2 BMP4 BMP7
8 co-receptor binding GO:0039706 9.32 BMP2 BMP4
9 transforming growth factor beta receptor binding GO:0005160 8.92 BMP2 BMP4 BMP7 GDF5

Sources for Proximal Symphalangism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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