MCID: SPS219
MIFTS: 44

Spastic Paraplegia 17, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 17, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 17, Autosomal Dominant:

Name: Spastic Paraplegia 17, Autosomal Dominant 57 75
Silver Spastic Paraplegia Syndrome 57 12 25 75 29 13 6
Silver Syndrome 57 12 25 59 75
Spg17 57 12 25 59 75
Spastic Paraplegia with Amyotrophy of Hands and Feet 57 12 25 75
Spastic Paraplegia-Amyotrophy of Hands and Feet 12 59
Autosomal Dominant Spastic Paraplegia Type 17 12 59
Hereditary Spastic Paraplegia 17 12 15
Spastic Paraplegia 17 25 73
Paraplegia, Spastic, Autosomal Dominant, Type 17 40
Neuronopathy, Distal Hereditary Motor, Type Vb 73
Distal Hereditary Motor Neuropathy Type 5b 12
Autosomal Dominant Spastic Paraplegia 17 12
Russell-Silver Syndrome 73
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
onset of gait abnormalities at 8 to 40 years
onset of hand involvement at 14 to 60 years
wasting of the hands is the first and most prominent manifestation
allelic disorder to distal spinal muscular atrophy, type v (dsmav, ), but distinguished by the presence of spasticity


HPO:

32
spastic paraplegia 17, autosomal dominant:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 270685
Disease Ontology 12 DOID:0110770
ICD10 33 G11.4
Orphanet 59 ORPHA100998
UMLS via Orphanet 74 C2931276
ICD10 via Orphanet 34 G11.4
MedGen 42 C2931276

Summaries for Spastic Paraplegia 17, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 17, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.

MalaCards based summary : Spastic Paraplegia 17, Autosomal Dominant, also known as silver spastic paraplegia syndrome, is related to silver-russell syndrome and russell-silver syndrome, x-linked. An important gene associated with Spastic Paraplegia 17, Autosomal Dominant is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways is Endochondral Ossification. Affiliated tissues include brain, kidney and bone, and related phenotypes are hyperreflexia and spastic gait

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12.

Genetics Home Reference : 25 Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.

Description from OMIM: 270685

Related Diseases for Spastic Paraplegia 17, Autosomal Dominant

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 17, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 31.1 CDKN1C GRB10 IGF2 KCNQ1OT1
2 russell-silver syndrome, x-linked 11.9
3 der kaloustian mcintosh silver syndrome 11.9
4 neuronopathy, distal hereditary motor, type vb 11.2
5 partington x-linked mental retardation syndrome 11.1
6 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.0
7 spastic paraplegia 17 10.9
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4 AGPAT2 BSCL2
9 berardinelli-seip congenital lipodystrophy 10.4 AGPAT2 BSCL2
10 congenital generalized lipodystrophy 10.3 AGPAT2 BSCL2
11 familial partial lipodystrophy 10.3 AGPAT2 BSCL2
12 omphalocele 10.0 CDKN1C KCNQ1OT1
13 hereditary spastic paraplegia 9.9
14 paraplegia 9.9
15 spasticity 9.9
16 silver-russell syndrome due to a point mutation 9.9 CDKN1C IGF2
17 beckwith-wiedemann syndrome due to imprinting defect of 11p15 9.7 IGF2 KCNQ1OT1
18 hereditary wilms' tumor 9.7 CDKN1C IGF2
19 wilms tumor 5 9.6 CDKN1C IGF2
20 diabetes mellitus, transient neonatal, 1 9.6 GNAS-AS1 GRB10 KCNQ1OT1
21 hepatoblastoma 9.4 CDKN1C IGF2
22 hemihyperplasia, isolated 9.3 CDKN1C IGF2 KCNQ1OT1
23 beckwith-wiedemann syndrome 9.3 CDKN1C IGF2 KCNQ1OT1
24 umbilical hernia 9.2 CDKN1C GNAS-AS1 IGF2
25 adrenocortical carcinoma, hereditary 9.2 CDKN1C IGF2

Graphical network of the top 20 diseases related to Spastic Paraplegia 17, Autosomal Dominant:



Diseases related to Spastic Paraplegia 17, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 17, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic gait
extensor plantar responses

Neurologic Peripheral Nervous System:
lower limb spasticity
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
thenar muscle weakness
more
Skeletal Feet:
pes cavus


Clinical features from OMIM:

270685

Human phenotypes related to Spastic Paraplegia 17, Autosomal Dominant:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
2 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
3 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
4 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
5 hand muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009130
6 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
7 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
8 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
9 distal sensory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002936
10 hand muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0030237
11 hip pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0030838
12 knee pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0030839
13 ankle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031374
14 abnormal motor nerve conduction velocity 59 32 occasional (7.5%) Occasional (29-5%) HP:0040131
15 abnormality of the foot musculature 59 Frequent (79-30%)
16 distal amyotrophy 59 Occasional (29-5%)
17 spastic paraplegia 32 HP:0001258
18 pes cavus 32 HP:0001761
19 lower limb spasticity 32 HP:0002061
20 impaired vibration sensation in the lower limbs 32 HP:0002166
21 first dorsal interossei muscle weakness 32 HP:0003392
22 thenar muscle atrophy 32 HP:0003393
23 first dorsal interossei muscle atrophy 32 HP:0003426
24 thenar muscle weakness 32 HP:0003427
25 lower limb muscle weakness 32 HP:0007340

GenomeRNAi Phenotypes related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.4 IGF2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.4 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 AGPAT2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.4 AGPAT2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 AGPAT2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.4 IGF2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.4 CDKN1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.4 IGF2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 AGPAT2 CDKN1C IGF2

Drugs & Therapeutics for Spastic Paraplegia 17, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 17, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 17, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 17, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Silver Spastic Paraplegia Syndrome 29

Anatomical Context for Spastic Paraplegia 17, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 17, Autosomal Dominant:

41
Brain, Kidney, Bone

Publications for Spastic Paraplegia 17, Autosomal Dominant

Articles related to Spastic Paraplegia 17, Autosomal Dominant:

(show all 47)
# Title Authors Year
1
Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion. ( 27034882 )
2016
2
Russel-Silver syndrome: A historical note and comment on an older adult. ( 26525433 )
2016
3
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome. ( 25395389 )
2015
4
BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. ( 25487175 )
2015
5
Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report. ( 25555030 )
2015
6
Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory. ( 25639378 )
2015
7
BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. ( 25219579 )
2015
8
Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome. ( 24075556 )
2014
9
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation. ( 24322424 )
2014
10
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation. ( 25044976 )
2014
11
Generalized lichen nitidus in Russell-Silver syndrome. ( 22329413 )
2013
12
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. ( 24065356 )
2013
13
Myoclonus-dystonia syndrome associated with Russell Silver syndrome. ( 23703955 )
2013
14
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. ( 21204802 )
2012
15
Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan. ( 21410572 )
2012
16
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
17
Methylation profiling in individuals with Russell-Silver syndrome. ( 20082469 )
2010
18
Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. ( 19730024 )
2009
19
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. ( 19876907 )
2009
20
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. ( 18401025 )
2008
21
Silver syndrome: The complexity of complicated hereditary spastic paraplegia. ( 18490616 )
2008
22
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. ( 18612770 )
2008
23
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. ( 17663003 )
2007
24
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. ( 17486577 )
2007
25
[Silver syndrome--case report]. ( 18224579 )
2007
26
Russell-Silver syndrome and nonverbal learning disability: a case study. ( 17523887 )
2007
27
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. ( 17504900 )
2007
28
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. ( 16427281 )
2006
29
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. ( 16007591 )
2005
30
Differences in dental and bone maturation in regions with or without hemihypertrophy in two patients with Russell-Silver syndrome. ( 16128247 )
2005
31
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. ( 15242882 )
2004
32
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. ( 15372247 )
2004
33
Bilateral reactive lymphoid hyperplasia of the orbit in a child with Russell-Silver syndrome. ( 15616510 )
2004
34
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. ( 14981520 )
2004
35
Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome? ( 15057125 )
2004
36
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. ( 11829489 )
2002
37
Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24. ( 11161811 )
2001
38
[Russel-Silver syndrome]. ( 11412409 )
2001
39
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. ( 11471175 )
2001
40
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. ( 11389484 )
2001
41
Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome. ( 11735022 )
2001
42
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. ( 10856193 )
2000
43
Russell-Silver Syndrome ( 20301499 )
1993
44
Horseshoe kidney in Russell-Silver syndrome. ( 2895527 )
1988
45
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. ( 4040173 )
1985
46
The lessons of polyploidy. Relation to congenital asymmetry and the Russell-Silver syndrome. ( 7200321 )
1982
47
Crossed asymmetry in Russell-Silver syndrome. ( 839508 )
1977

Variations for Spastic Paraplegia 17, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 17, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973

ClinVar genetic disease variations for Spastic Paraplegia 17, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
3 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965
4 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh38 Chromosome 11, 62702493: 62702493

Expression for Spastic Paraplegia 17, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 17, Autosomal Dominant.

Pathways for Spastic Paraplegia 17, Autosomal Dominant

Pathways related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 CDKN1C IGF2

GO Terms for Spastic Paraplegia 17, Autosomal Dominant

Biological processes related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of phosphorylation GO:0042326 8.62 CDKN1C GRB10

Molecular functions related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.62 GRB10 IGF2

Sources for Spastic Paraplegia 17, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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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
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49 NCI
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58 OMIM via Orphanet
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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