MCID: SPS004
MIFTS: 36

Spastic Quadriplegia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Quadriplegia

MalaCards integrated aliases for Spastic Quadriplegia:

Name: Spastic Quadriplegia 12 55 15 73
Spastic Quadriplegic Cerebral Palsy 12 53 37 73
Cerebral Palsy Spastic Quadriplegic 53 6
Cerebral Palsy, Quadriplegic, Infantile 73
Quadriplegic Infantile Cerebral Palsy 12
Tetraplegic Infantile Cerebral Palsy 12
Spastic Quadriplegia Cerebral Palsy 53
Spastic Tetraplegia Cerebral Palsy 53
Quadriplegic Cerebral Palsy 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10970
ICD9CM 35 343.2
MeSH 44 D002547
KEGG 37 H01097
ICD10 33 G80.0

Summaries for Spastic Quadriplegia

Disease Ontology : 12 A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.

MalaCards based summary : Spastic Quadriplegia, also known as spastic quadriplegic cerebral palsy, is related to pelizaeus-merzbacher disease and spastic cerebral palsy, and has symptoms including opisthotonus and muscle spasticity. An important gene associated with Spastic Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways/superpathways are GABAergic synapse and Citrate cycle (TCA cycle). The drug Baclofen has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and skin.

Wikipedia : 76 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Related Diseases for Spastic Quadriplegia

Diseases related to Spastic Quadriplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 32.1 SLC16A2 PLP1
2 spastic cerebral palsy 31.7 WDR45B PLP1
3 mitochondrial complex ii deficiency 31.2 SDHD SDHAF1 SDHA
4 quadriplegia 29.6 TBCD SPTAN1 SLC16A2 SDHD SDHAF1 SDHA
5 cerebral palsy, spastic quadriplegic, 1 12.8
6 cerebral palsy, spastic quadriplegic, 3 12.8
7 ichthyosis, spastic quadriplegia, and mental retardation 12.6
8 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.5
9 microcephaly with spastic quadriplegia 12.3
10 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.2
11 absent eyebrows and eyelashes with mental retardation 11.7
12 spastic paraplegia 51, autosomal recessive 11.7
13 spastic paraplegia 50, autosomal recessive 11.4
14 spastic paraplegia 47, autosomal recessive 11.4
15 spastic paraplegia 52, autosomal recessive 11.4
16 hereditary spastic paraplegia 51 11.4
17 microcephaly, seizures, spasticity, and brain calcifications 11.2
18 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.2
19 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 11.2
20 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 11.2
21 inherited congenital spastic tetraplegia 11.2
22 argininemia 11.1
23 allan-herndon-dudley syndrome 11.1
24 cerebral palsy, spastic quadriplegic, 2 11.1
25 epileptic encephalopathy, early infantile, 5 11.1
26 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.1
27 immunodeficiency 49 11.1
28 epileptic encephalopathy, early infantile, 53 11.1
29 encephalocele 11.1
30 cerebral palsy 10.3
31 alacrima, achalasia, and mental retardation syndrome 10.2
32 scoliosis 10.2
33 microcephaly 10.1
34 ichthyosis 10.1
35 pelizaeus-merzbacher-like disease 10.1 SLC16A2 PLP1
36 down syndrome 10.0
37 metachromatic leukodystrophy 10.0
38 retinitis pigmentosa 10.0
39 leber congenital amaurosis 4 10.0
40 west syndrome 10.0
41 ichthyosis lamellar 1 10.0
42 leukodystrophy 10.0
43 epilepsy 10.0
44 infantile epileptic encephalopathy 10.0
45 retinitis 10.0
46 myoclonus 10.0
47 spasticity 10.0
48 neural crest tumor 10.0 SDHD SDHA
49 persistent generalized lymphadenopathy 10.0 SDHD SDHA
50 carney triad 9.9 SDHD SDHA

Graphical network of the top 20 diseases related to Spastic Quadriplegia:



Diseases related to Spastic Quadriplegia

Symptoms & Phenotypes for Spastic Quadriplegia

UMLS symptoms related to Spastic Quadriplegia:


opisthotonus, muscle spasticity

Drugs & Therapeutics for Spastic Quadriplegia

Drugs for Spastic Quadriplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 4 1134-47-0 2284

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

Anatomical Context for Spastic Quadriplegia

MalaCards organs/tissues related to Spastic Quadriplegia:

41
Spinal Cord, Bone, Skin, Brain, Tongue, Salivary Gland, Lymph Node

Publications for Spastic Quadriplegia

Articles related to Spastic Quadriplegia:

(show top 50) (show all 72)
# Title Authors Year
1
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. ( 28503735 )
2017
2
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. ( 29254829 )
2017
3
Correspondence: Skeletal Maturation and Mineralization of Children with Moderate to Severe Spastic Quadriplegia. ( 28571225 )
2017
4
ASSESSMENT OF NUTRITIONAL STATUS OF CHILDREN AND ADOLESCENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. ( 28723982 )
2017
5
Orthodontic treatment and follow-up of a patient with cerebral palsy and spastic quadriplegia. ( 27692425 )
2016
6
Correlations between risk factors and functional evolution in patients with spastic quadriplegia. ( 27453749 )
2016
7
The benefits of a comprehensive rehabilitation program in patients diagnosed with spastic quadriplegia. ( 27974931 )
2016
8
Skeletal Maturation and Mineralisation of Children with Moderate to Severe Spastic Quadriplegia. ( 27504366 )
2016
9
Single-Trial Analysis of Inter-Beat Interval Perturbations Accompanying Single-Switch Scanning: Case Series of Three Children With Severe Spastic Quadriplegic Cerebral Palsy. ( 26068545 )
2016
10
Treatment of os odontoideum in a patient with spastic quadriplegic cerebral palsy. ( 25913747 )
2015
11
Health benefits of seated speed, resistance, and power training for an individual with spastic quadriplegic cerebral palsy: A case report. ( 26410068 )
2015
12
Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection. ( 24715871 )
2014
13
Autonomic responses to correct outcomes and interaction errors during single-switch scanning among children with severe spastic quadriplegic cerebral palsy. ( 24607065 )
2014
14
Disruption of Basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy. ( 23976945 )
2013
15
Surgical Treatment of Scoliosis in Non-Ambulatory Spastic Quadriplegic Cerebral Palsy Patients: A Matched Cohort Comparison of Unit Rod Technique and All-Pedicle Screw Constructs. ( 27927398 )
2013
16
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia. ( 22639992 )
2012
17
A patient with altered consciousness and spastic quadriplegia. ( 21476222 )
2011
18
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. ( 22100072 )
2011
19
Client-centred development of an infrared thermal access switch for a young adult with severe spastic quadriplegic cerebral palsy. ( 20569118 )
2011
20
Lower extremity orthoses in children with spastic quadriplegic cerebral palsy: implications for nurses, parents, and caregivers. ( 21597341 )
2011
21
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. ( 20493457 )
2010
22
Determinants of ambulation in children with spastic quadriplegic cerebral palsy: a population-based study. ( 19794101 )
2010
23
A multiple camera tongue switch for a child with severe spastic quadriplegic cerebral palsy. ( 19941441 )
2010
24
Decreased fracture incidence after 1 year of pamidronate treatment in children with spastic quadriplegic cerebral palsy. ( 20573180 )
2010
25
Relationships between developmental profiles and ambulatory ability in A follow-up study of preschool children with spastic quadriplegic cerebral palsy. ( 20979703 )
2010
26
TREATMENT OF PARALYTIC HIP DISLOCATION AMONG SPASTIC QUADRIPLEGIC CEREBRAL PALSY PATIENTS BY MEANS OF FEMORAL AND PELVIC OSTEOTOMY, WITHOUT OPENING THE JOINT CAPSULE (CAPSULOPLASTY). ( 27022539 )
2010
27
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. ( 19453595 )
2009
28
Follow-up of developmental profiles in children with spastic quadriplegic cerebral palsy. ( 20035642 )
2009
29
Proximal femoral resection and articulated hip distraction with an external fixator for the treatment of painful spastic hip dislocations in pediatric patients with spastic quadriplegia. ( 18043374 )
2008
30
Etiologic profile of spastic quadriplegia in children. ( 18358417 )
2008
31
Effect of nutritional support in children with spastic quadriplegia. ( 18940556 )
2008
32
Comorbidities and clinical determinants of outcome in children with spastic quadriplegic cerebral palsy. ( 18248493 )
2008
33
Etiologic profile of spastic quadriplegia in children. ( 17765809 )
2007
34
Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump. ( 18007255 )
2007
35
Botulinum toxin type a injections to salivary glands: combination with single event multilevel chemoneurolysis in 2 children with severe spastic quadriplegic cerebral palsy. ( 16401453 )
2006
36
Awake upper airway obstruction in children with spastic quadriplegic cerebral palsy. ( 16487389 )
2006
37
Reduced body protein in children with spastic quadriplegic cerebral palsy. ( 16522908 )
2006
38
Comparison of the ratio of upper to lower chest wall in children with spastic quadriplegic cerebral palsy and normally developed children. ( 16642554 )
2006
39
Pamidronate treatment and posttreatment bone density in children with spastic quadriplegic cerebral palsy. ( 16785077 )
2006
40
Effect of selective dorsal rhizotomy on need for orthopedic surgery for spastic quadriplegic cerebral palsy: long-term outcome analysis in relation to age. ( 16206973 )
2004
41
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. ( 12920088 )
2003
42
Prevalence of reduced bone mass in children and adults with spastic quadriplegia. ( 12549750 )
2003
43
Proximal femoral resection for subluxation or dislocation of the hip in spastic quadriplegia. ( 12828396 )
2003
44
Pictorial CME. Spastic quadriplegia due to cervical cord compression. ( 11924575 )
2002
45
Spasticity management in the child with spastic quadriplegia. ( 11851741 )
2001
46
Motor benefit from levodopa in spastic quadriplegic cerebral palsy. ( 10805341 )
2000
47
Resolution: a 15-year-old with spastic quadriplegia and a 60 degree scoliosis should have a posterior spinal fusion with instrumentation. The American Academy for Cerebral Palsy and Developmental Medicine 50th anniversary meeting debate. ( 9593501 )
1998
48
Bone density and other possible predictors of fracture risk in children and adolescents with spastic quadriplegia. ( 9183259 )
1997
49
Energy expenditure and body composition in children with spastic quadriplegic cerebral palsy. ( 8969729 )
1996
50
Changes in hip migration after selective dorsal rhizotomy for spastic quadriplegia in cerebral palsy. ( 7897515 )
1995

Variations for Spastic Quadriplegia

ClinVar genetic disease variations for Spastic Quadriplegia:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAD1 NM_000817.2(GAD1): c.*1205G> A single nucleotide variant Uncertain significance rs45537831 GRCh37 Chromosome 2, 171717597: 171717597
2 GAD1 NM_000817.2(GAD1): c.*1205G> A single nucleotide variant Uncertain significance rs45537831 GRCh38 Chromosome 2, 170861087: 170861087
3 GAD1 NM_000817.2(GAD1): c.*394G> A single nucleotide variant Uncertain significance rs746308188 GRCh37 Chromosome 2, 171716786: 171716786
4 GAD1 NM_000817.2(GAD1): c.*394G> A single nucleotide variant Uncertain significance rs746308188 GRCh38 Chromosome 2, 170860276: 170860276
5 GAD1 NM_000817.2(GAD1): c.1290G> A (p.Met430Ile) single nucleotide variant Uncertain significance rs761887714 GRCh37 Chromosome 2, 171710409: 171710409
6 GAD1 NM_000817.2(GAD1): c.1290G> A (p.Met430Ile) single nucleotide variant Uncertain significance rs761887714 GRCh38 Chromosome 2, 170853899: 170853899
7 GAD1 NM_000817.2(GAD1): c.1252G> T (p.Val418Phe) single nucleotide variant Uncertain significance rs143058194 GRCh37 Chromosome 2, 171709291: 171709291
8 GAD1 NM_000817.2(GAD1): c.1252G> T (p.Val418Phe) single nucleotide variant Uncertain significance rs143058194 GRCh38 Chromosome 2, 170852781: 170852781
9 GAD1 NM_000817.2(GAD1): c.807G> A (p.Pro269=) single nucleotide variant Uncertain significance rs34100397 GRCh37 Chromosome 2, 171702071: 171702071
10 GAD1 NM_000817.2(GAD1): c.807G> A (p.Pro269=) single nucleotide variant Uncertain significance rs34100397 GRCh38 Chromosome 2, 170845561: 170845561
11 GAD1 NM_000817.2(GAD1): c.380A> T (p.Tyr127Phe) single nucleotide variant Uncertain significance rs141004978 GRCh37 Chromosome 2, 171687535: 171687535
12 GAD1 NM_000817.2(GAD1): c.380A> T (p.Tyr127Phe) single nucleotide variant Uncertain significance rs141004978 GRCh38 Chromosome 2, 170831025: 170831025
13 GAD1 NM_000817.2(GAD1): c.17C> T (p.Pro6Leu) single nucleotide variant Uncertain significance rs886055098 GRCh37 Chromosome 2, 171675118: 171675118
14 GAD1 NM_000817.2(GAD1): c.17C> T (p.Pro6Leu) single nucleotide variant Uncertain significance rs886055098 GRCh38 Chromosome 2, 170818608: 170818608
15 GAD1 NM_000817.2(GAD1): c.-53C> A single nucleotide variant Uncertain significance rs886055097 GRCh37 Chromosome 2, 171675049: 171675049
16 GAD1 NM_000817.2(GAD1): c.-53C> A single nucleotide variant Uncertain significance rs886055097 GRCh38 Chromosome 2, 170818539: 170818539
17 GAD1 NM_000817.2(GAD1): c.-170G> A single nucleotide variant Uncertain significance rs561714411 GRCh37 Chromosome 2, 171673452: 171673452
18 GAD1 NM_000817.2(GAD1): c.-170G> A single nucleotide variant Uncertain significance rs561714411 GRCh38 Chromosome 2, 170816942: 170816942
19 GAD1 NM_000817.2(GAD1): c.-255G> A single nucleotide variant Uncertain significance rs545676026 GRCh38 Chromosome 2, 170816857: 170816857
20 GAD1 NM_000817.2(GAD1): c.-255G> A single nucleotide variant Uncertain significance rs545676026 GRCh37 Chromosome 2, 171673367: 171673367
21 GAD1 NM_000817.2(GAD1): c.-288T> C single nucleotide variant Uncertain significance rs754019434 GRCh38 Chromosome 2, 170816824: 170816824
22 GAD1 NM_000817.2(GAD1): c.-288T> C single nucleotide variant Uncertain significance rs754019434 GRCh37 Chromosome 2, 171673334: 171673334
23 GAD1 NM_000817.2(GAD1): c.*810T> C single nucleotide variant Uncertain significance rs886055101 GRCh37 Chromosome 2, 171717202: 171717202
24 GAD1 NM_000817.2(GAD1): c.*810T> C single nucleotide variant Uncertain significance rs886055101 GRCh38 Chromosome 2, 170860692: 170860692
25 GAD1 NM_000817.2(GAD1): c.*700C> T single nucleotide variant Likely benign rs45479900 GRCh37 Chromosome 2, 171717092: 171717092
26 GAD1 NM_000817.2(GAD1): c.*700C> T single nucleotide variant Likely benign rs45479900 GRCh38 Chromosome 2, 170860582: 170860582
27 GAD1 NM_000817.2(GAD1): c.*431G> A single nucleotide variant Uncertain significance rs780421116 GRCh37 Chromosome 2, 171716823: 171716823
28 GAD1 NM_000817.2(GAD1): c.*431G> A single nucleotide variant Uncertain significance rs780421116 GRCh38 Chromosome 2, 170860313: 170860313
29 GAD1 NM_000817.2(GAD1): c.1612-3A> G single nucleotide variant Uncertain significance rs113828797 GRCh37 Chromosome 2, 171716216: 171716216
30 GAD1 NM_000817.2(GAD1): c.1612-3A> G single nucleotide variant Uncertain significance rs113828797 GRCh38 Chromosome 2, 170859706: 170859706
31 GAD1 NM_000817.2(GAD1): c.1251C> T (p.Leu417=) single nucleotide variant Uncertain significance rs35426017 GRCh37 Chromosome 2, 171709290: 171709290
32 GAD1 NM_000817.2(GAD1): c.1251C> T (p.Leu417=) single nucleotide variant Uncertain significance rs35426017 GRCh38 Chromosome 2, 170852780: 170852780
33 GAD1 NM_000817.2(GAD1): c.1002+12G> A single nucleotide variant Likely benign rs701491 GRCh37 Chromosome 2, 171702585: 171702585
34 GAD1 NM_000817.2(GAD1): c.1002+12G> A single nucleotide variant Likely benign rs701491 GRCh38 Chromosome 2, 170846075: 170846075
35 GAD1 NM_000817.2(GAD1): c.265C> T (p.Arg89Trp) single nucleotide variant Uncertain significance rs150841255 GRCh37 Chromosome 2, 171686104: 171686104
36 GAD1 NM_000817.2(GAD1): c.265C> T (p.Arg89Trp) single nucleotide variant Uncertain significance rs150841255 GRCh38 Chromosome 2, 170829594: 170829594
37 GAD1 NM_000817.2(GAD1): c.-161G> T single nucleotide variant Uncertain significance rs886055096 GRCh37 Chromosome 2, 171673461: 171673461
38 GAD1 NM_000817.2(GAD1): c.-161G> T single nucleotide variant Uncertain significance rs886055096 GRCh38 Chromosome 2, 170816951: 170816951
39 GAD1 NM_000817.2(GAD1): c.-161G> A single nucleotide variant Uncertain significance rs886055096 GRCh37 Chromosome 2, 171673461: 171673461
40 GAD1 NM_000817.2(GAD1): c.-161G> A single nucleotide variant Uncertain significance rs886055096 GRCh38 Chromosome 2, 170816951: 170816951
41 GAD1 NM_000817.2(GAD1): c.-176G> C single nucleotide variant Uncertain significance rs886055095 GRCh37 Chromosome 2, 171673446: 171673446
42 GAD1 NM_000817.2(GAD1): c.-176G> C single nucleotide variant Uncertain significance rs886055095 GRCh38 Chromosome 2, 170816936: 170816936
43 GAD1 NM_000817.2(GAD1): c.*1008C> T single nucleotide variant Likely benign rs769399 GRCh37 Chromosome 2, 171717400: 171717400
44 GAD1 NM_000817.2(GAD1): c.*1008C> T single nucleotide variant Likely benign rs769399 GRCh38 Chromosome 2, 170860890: 170860890
45 GAD1 NM_000817.2(GAD1): c.*67A> G single nucleotide variant Likely benign rs769406 GRCh37 Chromosome 2, 171716459: 171716459
46 GAD1 NM_000817.2(GAD1): c.*67A> G single nucleotide variant Likely benign rs769406 GRCh38 Chromosome 2, 170859949: 170859949
47 GAD1 NM_000817.2(GAD1): c.1614G> C (p.Val538=) single nucleotide variant Uncertain significance rs886055099 GRCh37 Chromosome 2, 171716221: 171716221
48 GAD1 NM_000817.2(GAD1): c.1614G> C (p.Val538=) single nucleotide variant Uncertain significance rs886055099 GRCh38 Chromosome 2, 170859711: 170859711
49 GAD1 NM_000817.2(GAD1): c.682A> C (p.Ile228Leu) single nucleotide variant Uncertain significance rs45566933 GRCh37 Chromosome 2, 171700598: 171700598
50 GAD1 NM_000817.2(GAD1): c.682A> C (p.Ile228Leu) single nucleotide variant Uncertain significance rs45566933 GRCh38 Chromosome 2, 170844088: 170844088

Copy number variations for Spastic Quadriplegia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246804 9 125800000 132500000 Microdeletion STXBP1 Spastic Quadriplegia
2 247705 9 130689850 130689869 Microdeletion SPTAN1 Spastic Quadriplegia

Expression for Spastic Quadriplegia

Search GEO for disease gene expression data for Spastic Quadriplegia.

Pathways for Spastic Quadriplegia

Pathways related to Spastic Quadriplegia according to KEGG:

37
# Name Kegg Source Accession
1 GABAergic synapse hsa04727

Pathways related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.64 SDHA SDHD

GO Terms for Spastic Quadriplegia

Cellular components related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHA SDHD

Biological processes related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 8.96 SDHA SDHD
2 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.62 SDHA SDHD

Molecular functions related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.16 SDHA SDHD
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.96 SDHA SDHD
3 succinate dehydrogenase activity GO:0000104 8.62 SDHA SDHD

Sources for Spastic Quadriplegia

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
Content
Loading form....