Aliases & Classifications for Isolated Hyperckemia

MalaCards integrated aliases for Isolated Hyperckemia:

Name: Isolated Hyperckemia 26
Elevated Serum Creatine Phosphokinase 26 30 6
Idiopathic Hyperckemia 26 38
Idiopathic Persistent Elevation of Serum Creatine Kinase 26
Elevated Serum Cpk 26
H-Ck 26

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KEGG 38 H02181

Summaries for Isolated Hyperckemia

Genetics Home Reference : 26 Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.

MalaCards based summary : Isolated Hyperckemia, also known as elevated serum creatine phosphokinase, is related to creatine phosphokinase, elevated serum and limb-girdle muscular dystrophy. An important gene associated with Isolated Hyperckemia is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. Affiliated tissues include skeletal muscle and testes, and related phenotypes are behavior/neurological and cellular

Related Diseases for Isolated Hyperckemia

Diseases related to Isolated Hyperckemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 creatine phosphokinase, elevated serum 30.1 ANO5 CAV3 DMD GAA GDAP1 LAMA2
2 limb-girdle muscular dystrophy 28.4 ANO5 CAPN3 CAV3 DMD FKRP LAMA2
3 muscular dystrophy 28.1 ANO5 CAPN3 CAV3 DMD FKRP GAA
4 rippling muscle disease 2 11.3
5 paresthesia 10.3 CAPN3 FKRP
6 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 CAPN3 FKRP
7 autosomal recessive limb-girdle muscular dystrophy type 2d 10.3 CAPN3 FKRP
8 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 CAPN3 FKRP
9 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 CAPN3 FKRP
10 muscular dystrophy, duchenne type 10.2
11 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 CAPN3 DMD
12 autosomal recessive limb-girdle muscular dystrophy type 2g 10.2 CAPN3 TCAP
13 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 ANO5 FKRP
14 muscular dystrophy-dystroglycanopathy , type c, 4 10.1 ANO5 FKRP
15 ocular motor apraxia 10.1
16 mcleod syndrome 10.1
17 neuroleptic malignant syndrome 10.1
18 malignant hyperthermia 10.1
19 glycogen storage disease ii 10.1 DMD GAA
20 myopathy 10.1 CAPN3 CAV3 GAA
21 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 DMD FKRP
22 cardiomyopathy, dilated, 1b 10.0 DMD LAMA2
23 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAPN3 CAV3 DMD
24 facioscapulohumeral muscular dystrophy 1 10.0 DMD GAA
25 bethlem myopathy 1 10.0 CAPN3 DMD
26 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 CAPN3 FKRP TCAP
27 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD LAMA2
28 familial isolated dilated cardiomyopathy 10.0 DMD TCAP
29 cardiomyopathy, dilated, 1d 10.0 DMD LAMA2
30 atrial standstill 1 10.0 DMD FKRP GAA
31 restless legs syndrome 9.9
32 malignant hyperthermia susceptibility 9.9
33 cardiomyopathy, dilated, 1a 9.9 DMD LAMA2
34 ullrich congenital muscular dystrophy 1 9.9 CAPN3 LAMA2
35 muscular dystrophy, becker type 9.9 DMD LAMA2
36 myopathy, congenital 9.9 DMD GAA
37 muscular dystrophy, congenital, 1b 9.9 DMD FKRP LAMA2
38 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 DMD FKRP LAMA2
39 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DMD FKRP LAMA2
40 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DMD FKRP LAMA2
41 muscular dystrophy, congenital, lmna-related 9.8 DMD FKRP LAMA2
42 walker-warburg syndrome 9.8 DMD FKRP LAMA2
43 myopathy, x-linked, with excessive autophagy 9.8 DMD GAA LAMA2
44 rigid spine muscular dystrophy 1 9.8 DMD GAA LAMA2
45 neuromuscular disease 9.8 DMD GAA LAMA2
46 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 CAPN3 CAV3 FKRP TCAP
47 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 CAPN3 DMD FKRP TCAP
48 muscular dystrophy, limb-girdle, autosomal recessive 6 9.7 CAPN3 DMD FKRP TCAP
49 myofibrillar myopathy 9.7 DMD TCAP
50 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 CAV3 DMD FKRP LAMA2

Graphical network of the top 20 diseases related to Isolated Hyperckemia:



Diseases related to Isolated Hyperckemia

Symptoms & Phenotypes for Isolated Hyperckemia

MGI Mouse Phenotypes related to Isolated Hyperckemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 ANO5 DMD FKRP GAA GDAP1 LAMA2
2 cellular MP:0005384 9.76 ANO5 CAV3 DMD FKRP GAA GDAP1
3 cardiovascular system MP:0005385 9.73 CAPN3 CAV3 DMD FKRP GAA TCAP
4 homeostasis/metabolism MP:0005376 9.61 ANO5 CAPN3 CAV3 DMD FKRP GAA
5 muscle MP:0005369 9.23 ANO5 CAPN3 CAV3 DMD FKRP GAA

Drugs & Therapeutics for Isolated Hyperckemia

Search Clinical Trials , NIH Clinical Center for Isolated Hyperckemia

Genetic Tests for Isolated Hyperckemia

Genetic tests related to Isolated Hyperckemia:

# Genetic test Affiliating Genes
1 Elevated Serum Creatine Phosphokinase 30 CAV3

Anatomical Context for Isolated Hyperckemia

MalaCards organs/tissues related to Isolated Hyperckemia:

42
Skeletal Muscle, Testes

Publications for Isolated Hyperckemia

Articles related to Isolated Hyperckemia:

(show all 30)
# Title Authors Year
1
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. ( 30055862 )
2018
2
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
5
Elevated serum creatine phosphokinase is associated with mortality and inotropic requirement in critically injured adults. ( 25441175 )
2014
6
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
7
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
8
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 21956720 )
2011
9
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. ( 19820980 )
2010
10
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. ( 18930476 )
2009
11
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. ( 17702496 )
2007
12
Molecular and muscle pathology in a series of caveolinopathy patients. ( 15580566 )
2005
13
Elevated serum creatine phosphokinase in choline-deficient humans: mechanistic studies in C2C12 mouse myoblasts. ( 15213044 )
2004
14
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. ( 12939441 )
2003
15
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. ( 14663034 )
2003
16
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. ( 11805270 )
2002
17
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. ( 12082049 )
2002
18
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. ( 11431690 )
2001
19
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. ( 11756609 )
2001
20
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. ( 11001938 )
2000
21
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. ( 10746614 )
2000
22
Phenotypic variability in rippling muscle disease. ( 10227634 )
1999
23
Muscle cramps and elevated serum creatine phosphokinase levels induced by beta-adrenoceptor blockers. ( 7621844 )
1995
24
The myth of elevated serum creatine phosphokinase level and neuroleptic malignant syndrome. ( 1677602 )
1991
25
Hyponatremic coma and elevated serum creatine phosphokinase following excessive caffeine intake. ( 3526374 )
1986
26
Elevated serum creatine phosphokinase in subjects with McLeod syndrome. ( 7197431 )
1981
27
A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen. ( 1146501 )
1975
28
Letter: Elevated serum creatine phosphokinase levels in healthy teen-aged boys. ( 1156218 )
1975
29
Elevated serum-creatine phosphokinase activity in a family with malignant hyperpyrexia. ( 5062123 )
1972
30
Elevated serum creatine phosphokinase activity in diseases of the central nervous system in sheep. ( 5691207 )
1968

Variations for Isolated Hyperckemia

ClinVar genetic disease variations for Isolated Hyperckemia:

6 (show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
2 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
3 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
4 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
5 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
6 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
7 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
8 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh38 Chromosome 3, 8745547: 8745547
9 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
10 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
11 CAV3 NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del) deletion Uncertain significance rs199476335 GRCh37 Chromosome 3, 8787387: 8787389
12 CAV3 NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del) deletion Uncertain significance rs199476335 GRCh38 Chromosome 3, 8745701: 8745703
13 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh37 Chromosome 3, 8775648: 8775648
14 CAV3 NM_033337.2(CAV3): c.86C> T (p.Pro29Leu) single nucleotide variant Pathogenic rs116840786 GRCh38 Chromosome 3, 8733962: 8733962
15 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
16 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
17 CAPN3 NM_000070.2(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 GRCh37 Chromosome 15, 42695919: 42695919
18 CAPN3 NM_000070.2(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 GRCh38 Chromosome 15, 42403721: 42403721
19 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123383 GRCh37 Chromosome 6, 129781432: 129781432
20 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123383 GRCh38 Chromosome 6, 129460287: 129460287
21 OPA1 NM_130837.2(OPA1): c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
22 OPA1 NM_130837.2(OPA1): c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
23 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 GRCh37 Chromosome 19, 39027398: 39027398
24 RYR1 NM_000540.2(RYR1): c.11599C> T (p.Arg3867Cys) single nucleotide variant Uncertain significance rs138593495 GRCh38 Chromosome 19, 38536758: 38536758
25 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 GRCh37 Chromosome 11, 22283708: 22283708
26 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 GRCh38 Chromosome 11, 22262162: 22262162
27 CAV3 NM_033337.2(CAV3): c.400G> A (p.Ala134Thr) single nucleotide variant Uncertain significance rs773309037 GRCh37 Chromosome 3, 8787497: 8787497
28 CAV3 NM_033337.2(CAV3): c.400G> A (p.Ala134Thr) single nucleotide variant Uncertain significance rs773309037 GRCh38 Chromosome 3, 8745811: 8745811
29 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dup (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh37 Chromosome 9, 119461386: 119461387
30 ASTN2; TRIM32 NM_012210.3(TRIM32): c.1365_1366dup (p.Thr456Ilefs) duplication Pathogenic rs886044913 GRCh38 Chromosome 9, 116699107: 116699108
31 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 GRCh38 Chromosome 11, 22236272: 22236272
32 ANO5 NM_213599.2(ANO5): c.758A> C (p.His253Pro) single nucleotide variant Likely pathogenic rs886044915 GRCh37 Chromosome 11, 22257818: 22257818
33 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 GRCh37 Chromosome X, 31227651: 31227651
34 DMD NM_004006.2(DMD): c.9527A> G (p.Asp3176Gly) single nucleotide variant Likely pathogenic rs886044916 GRCh38 Chromosome X, 31209534: 31209534
35 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh37 Chromosome X, 32305797: 32305797
36 DMD NM_004006.2(DMD): c.6139C> T (p.Gln2047Ter) single nucleotide variant Pathogenic rs1057516028 GRCh38 Chromosome X, 32287680: 32287680
37 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 GRCh37 Chromosome 19, 38976295: 38976295
38 RYR1 NM_000540.2(RYR1): c.5000G> A (p.Arg1667His) single nucleotide variant Uncertain significance rs138978909 GRCh38 Chromosome 19, 38485655: 38485655
39 DMD NM_004006.2(DMD): c.10211delA (p.Asp3404Alafs) deletion Likely pathogenic rs1114167437 GRCh38 Chromosome X, 31178681: 31178681
40 DMD NM_004006.2(DMD): c.10211delA (p.Asp3404Alafs) deletion Likely pathogenic rs1114167437 GRCh37 Chromosome X, 31196798: 31196798
41 DMD NM_004006.2(DMD): c.4071+1delG deletion Likely pathogenic rs1114167439 GRCh38 Chromosome X, 32438240: 32438240
42 DMD NM_004006.2(DMD): c.4071+1delG deletion Likely pathogenic rs1114167439 GRCh37 Chromosome X, 32456358: 32456358
43 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic rs1555606976 GRCh38 Chromosome 17, 39665449: 39665450
44 TCAP NM_003673.3(TCAP): c.90_91delGT (p.Ser31Hisfs) deletion Pathogenic rs1555606976 GRCh37 Chromosome 17, 37821702: 37821703
45 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic rs1556980528 GRCh37 Chromosome X, 32756908: 32756908
46 DMD NM_004006.2(DMD): c.650-39498A> G single nucleotide variant Likely pathogenic rs1556980528 GRCh38 Chromosome X, 32738791: 32738791
47 ANO5 NM_213599.2(ANO5): c.364-2A> G single nucleotide variant Likely pathogenic rs776474397 GRCh38 Chromosome 11, 22227300: 22227300
48 ANO5 NM_213599.2(ANO5): c.364-2A> G single nucleotide variant Likely pathogenic rs776474397 GRCh37 Chromosome 11, 22248846: 22248846
49 LAMA2 NM_000426.3(LAMA2): c.2450+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1024374408 GRCh37 Chromosome 6, 129591912: 129591912
50 LAMA2 NM_000426.3(LAMA2): c.2450+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1024374408 GRCh38 Chromosome 6, 129270767: 129270767

Expression for Isolated Hyperckemia

Search GEO for disease gene expression data for Isolated Hyperckemia.

Pathways for Isolated Hyperckemia

Pathways related to Isolated Hyperckemia according to KEGG:

38
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

Pathways related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 CAPN3 DMD LAMA2
2 11.01 DMD TCAP
3 9.9 DMD LAMA2

GO Terms for Isolated Hyperckemia

Cellular components related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.46 CAPN3 CAV3 DMD TCAP
2 neuromuscular junction GO:0031594 9.37 CAV3 LAMA2
3 myofibril GO:0030016 9.32 CAPN3 DMD
4 T-tubule GO:0030315 9.26 CAPN3 CAV3
5 sarcolemma GO:0042383 9.26 CAV3 DMD FKRP LAMA2
6 dystrophin-associated glycoprotein complex GO:0016010 8.62 CAV3 DMD

Biological processes related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.48 CAPN3 TCAP
2 muscle filament sliding GO:0030049 9.46 DMD TCAP
3 regulation of heart rate GO:0002027 9.43 CAV3 DMD
4 response to muscle stretch GO:0035994 9.4 DMD TCAP
5 nucleus localization GO:0051647 9.37 CAV3 DMD
6 cardiac muscle contraction GO:0060048 9.33 DMD GAA TCAP
7 detection of muscle stretch GO:0035995 9.32 CAV3 TCAP
8 regulation of skeletal muscle contraction GO:0014819 9.26 CAV3 DMD
9 muscle organ development GO:0007517 9.26 CAPN3 CAV3 DMD LAMA2
10 muscle cell cellular homeostasis GO:0046716 8.92 CAPN3 CAV3 DMD GAA

Molecular functions related to Isolated Hyperckemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex scaffold activity GO:0032947 9.32 CAPN3 CAV3
2 nitric-oxide synthase binding GO:0050998 9.26 CAV3 DMD
3 titin binding GO:0031432 9.16 CAPN3 TCAP
4 dystroglycan binding GO:0002162 8.96 DMD FKRP
5 structural constituent of muscle GO:0008307 8.8 CAPN3 DMD TCAP

Sources for Isolated Hyperckemia

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
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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