RMD2
MCID: RPP006
MIFTS: 44

Rippling Muscle Disease 2 (RMD2)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rippling Muscle Disease 2

MalaCards integrated aliases for Rippling Muscle Disease 2:

Name: Rippling Muscle Disease 2 57 12 72 29 6 15 70
Rippling Muscle Disease 57 20 43 58 36 29 13 54 70
Rmd 57 20 43
Muscular Dystrophy, Limb-Girdle, Type 1c 72 70
Limb-Girdle Muscular Dystrophy 1c 72 36
Rmd2 57 72
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly; Lgmd1c, Formerly 57
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 12
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly 57
Rippling Muscle Disease; Rmd 57
Rippling Muscle Disease 1 70
Disease, Muscle, Rippling 39
Rippling Muscle Syndrome 43
Lgmd1c, Formerly 57
Lgmd1c 72

Characteristics:

Orphanet epidemiological data:

58
rippling muscle disease
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 22 years (range 5-54)
genetic heterogeneity (see rmd1, )
autosomal recessive inheritance has been reported (see )
allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, )


HPO:

31
rippling muscle disease 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060255
OMIM® 57 606072
MeSH 44 D009135
SNOMED-CT 67 709281006
MESH via Orphanet 45 C535685
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 71 C1853698
Orphanet 58 ORPHA97238
SNOMED-CT via HPO 68 263681008 274523007
UMLS 70 C1832560 C1832567 C1838254 more

Summaries for Rippling Muscle Disease 2

GARD : 20 Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. Signs and symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely. It is characterized by signs of increased muscle irritability, including percussion-induced rapid contractions (repetitive tensing of the muscle), percussion-induced muscle mounding ("bunching up" of the muscle), and/or visible rippling of the muscles. Fatigue, cramps, and/or muscle stiffness are common, especially after strenuous activity or exposure to cold temperatures. Some affected people may also have hypertrophy (overgrowth) of some muscles and an unusual gait. Treatment is said to be supportive and based on the signs and symptoms present in each person. Rippling muscle disease can be caused by changes ( mutations ) in the CAV3 gene. Inheritance is usually autosomal dominant, but can be autosomal recessive. In addition to RMD, CAV3 gene mutations can cause features of the other caveolinopathies, even within the same family. The other caveolinopathies are: limb-girdle muscular dystrophy 1C, isolated hyperCKemia, CAV3-related distal myopathy, and hypertrophic cardiomyopathy. There have also been reported cases of an acquired, autoimmune form of RMD that occurs concurrently with myasthenia gravis. In this form, there is no family history of RMD and CAV3 testing is negative.

MalaCards based summary : Rippling Muscle Disease 2, also known as rippling muscle disease, is related to cav3-related distal myopathy and myopathy, distal, tateyama type, and has symptoms including myalgia, exercise-induced myalgia and muscle cramp. An important gene associated with Rippling Muscle Disease 2 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. Affiliated tissues include skeletal muscle, eye and lung, and related phenotypes are elevated serum creatine kinase and emg abnormality

Disease Ontology : 12 A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has material basis in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

MedlinePlus Genetics : 43 Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially in the calf. Some affected individuals have an abnormal pattern of walking (gait), such as walking on tiptoe. They may experience fatigue, cramps, or muscle stiffness, especially after exercise or in cold temperatures.The age of onset of rippling muscle disease varies widely, but it often begins in late childhood or adolescence. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy.

OMIM® : 57 Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005). (606072) (Updated 20-May-2021)

KEGG : 36 Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been reported that loss-of-function mutations in caveolin-3 gene are associated with a form of muscular dystrophy, LGMD1C. Caveolins are the principal protein components of caveolae which represent appendages or sub-compartments of plasma membranes.

UniProtKB/Swiss-Prot : 72 Rippling muscle disease 2: A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive.

Related Diseases for Rippling Muscle Disease 2

Diseases in the Rippling Muscle Disease 2 family:

Rippling Muscle Disease 1

Diseases related to Rippling Muscle Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 cav3-related distal myopathy 30.8 SSUH2 CAV3
2 myopathy, distal, tateyama type 30.8 SSUH2 CAV3
3 limb-girdle muscular dystrophy type 1c 30.7 SSUH2 DYSF CAV3
4 creatine phosphokinase, elevated serum 30.5 SSUH2 CAV3
5 muscular dystrophy 30.2 SSUH2 SSPN DYSF CAV3
6 isolated elevated serum creatine phosphokinase levels 29.7 SSUH2 FIBIN DYSF CAV3 CAV2
7 rippling muscle disease 1 11.7
8 rippling muscle disease with myasthenia gravis 11.5
9 myopathy 10.6
10 myasthenia gravis 10.6
11 long qt syndrome 10.5
12 limb-girdle muscular dystrophy 10.3
13 neuromuscular disease 10.3
14 qualitative or quantitative defects of caveolin-3 10.3
15 muscular dystrophy, duchenne type 10.2
16 thymoma, familial 10.2
17 monocular esotropia 10.2
18 thymoma 10.2
19 esotropia 10.2
20 limb-girdle muscular dystrophy type 1a 10.1 DYSF CAV3
21 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 DYSF CAV3
22 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 DYSF CAV3
23 long qt syndrome 9 10.1 SSUH2 CAV3
24 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 DYSF CAV3
25 muscular dystrophy, limb-girdle, autosomal dominant 2 10.1 DYSF CAV3
26 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 DYSF CAV3
27 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1 SSPN DYSF
28 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 DYSF CAV3
29 cardiomyopathy, dilated, 3b 10.1 SSPN DYSF
30 lipodystrophy, congenital generalized, type 3 10.0 FIBIN CAV2
31 covid-19 10.0
32 atrial standstill 1 10.0
33 hypercholesterolemia, familial, 1 10.0
34 glycogen storage disease ii 10.0
35 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
36 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
37 miyoshi muscular dystrophy 10.0
38 dilated cardiomyopathy 10.0
39 hypothyroidism 10.0
40 malignant hyperthermia 10.0
41 alopecia areata 10.0
42 alopecia 10.0
43 malignant hyperthermia susceptibility 10.0
44 myotonia 10.0
45 autosomal recessive limb-girdle muscular dystrophy 10.0 SSPN DYSF CAV3
46 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 SSPN DYSF CAV3
47 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 SSPN DYSF CAV3
48 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DYSF CAV3
49 familial long qt syndrome 9.9 SSUH2 CAV3
50 muscular dystrophy, congenital, lmna-related 9.9 SSPN DYSF CAV3

Graphical network of the top 20 diseases related to Rippling Muscle Disease 2:



Diseases related to Rippling Muscle Disease 2

Symptoms & Phenotypes for Rippling Muscle Disease 2

Human phenotypes related to Rippling Muscle Disease 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 emg abnormality 31 HP:0003457
3 skeletal muscle hypertrophy 31 HP:0003712
4 exercise-induced myalgia 31 HP:0003738
5 exercise-induced muscle cramps 31 HP:0003710
6 percussion-induced rapid rolling muscle contractions 31 HP:0003760
7 exercise-induced muscle stiffness 31 HP:0008967
8 muscle hyperirritability 31 HP:0003559
9 muscle mounding 31 HP:0003719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle hyperirritability
muscle mounding
muscle hypertrophy
muscle cramps with exercise
muscle pain with exercise
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

606072 (Updated 20-May-2021)

UMLS symptoms related to Rippling Muscle Disease 2:


myalgia; exercise-induced myalgia; muscle cramp

Drugs & Therapeutics for Rippling Muscle Disease 2

Search Clinical Trials , NIH Clinical Center for Rippling Muscle Disease 2

Genetic Tests for Rippling Muscle Disease 2

Genetic tests related to Rippling Muscle Disease 2:

# Genetic test Affiliating Genes
1 Rippling Muscle Disease 2 29 CAV3
2 Rippling Muscle Disease 29

Anatomical Context for Rippling Muscle Disease 2

MalaCards organs/tissues related to Rippling Muscle Disease 2:

40
Skeletal Muscle, Eye, Lung, Breast

Publications for Rippling Muscle Disease 2

Articles related to Rippling Muscle Disease 2:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 54 61 57 6
15668980 2005
2
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 54 57 6 61
12939441 2003
3
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 61 54 6 57
12666119 2003
4
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 6 57 54 61
11756609 2001
5
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 54 61 6 57
11431690 2001
6
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. 61 57 6
16247063 2005
7
Phenotypic variability in rippling muscle disease. 61 57 6
10227634 1999
8
Rippling muscle disease. 61 57 6
2705900 1989
9
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57 6
30055862 2018
10
Mutations in the caveolin-3 gene: When are they pathogenic? 6 57
11251997 2001
11
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 57 6
11001938 2000
12
Caveolin-3 in muscular dystrophy. 57 6
9536092 1998
13
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 57 6
9537420 1998
14
A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen. 57 6
1146501 1975
15
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 6 61 54
14663034 2003
16
Consequences of a novel caveolin-3 mutation in a large German family. 6 54 61
12557291 2003
17
Rippling muscle disease: variable phenotype in a family with five afflicted members. 61 6
19697367 2010
18
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. 61 57
7936247 1994
19
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
20
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 6
18930476 2009
21
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
22
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 6
11805270 2002
23
Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity. 57
11159934 2001
24
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 6
10746614 2000
25
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. 6
10464299 1999
26
Caveolinopathies: from the biology of caveolin-3 to human diseases. 54 61
19584897 2010
27
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. 61 54
19773168 2009
28
Caveolin-3 regulates myostatin signaling. Mini-review. 54 61
19108573 2008
29
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. 61 54
18487559 2008
30
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. 54 61
17524427 2007
31
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 61 54
16730439 2006
32
Rippling muscle disease. 61 54
16723230 2006
33
Two novel CAV3 gene mutations in Japanese families. 61 54
15564037 2004
34
Phenotypic variability associated with Arg26Gln mutation in caveolin3. 61 54
15318349 2004
35
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. 61 54
14981167 2004
36
The biology of caveolae: lessons from caveolin knockout mice and implications for human disease. 61 54
14993453 2003
37
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 61 54
12839838 2003
38
Inhibition of lipid raft-dependent signaling by a dystrophy-associated mutant of caveolin-3. 61 54
11884389 2002
39
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. 61
30723005 2019
40
Peripheral nerve hyperexcitability. 61
31307606 2019
41
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
42
Teaching Video NeuroImages: Rippling muscle disease with caveolin myopathy. 61
30373930 2018
43
Immune-mediated rippling muscle disease in a patient with treated hypothyroidism. 61
29246623 2017
44
Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association. 61
28807458 2017
45
Immune-mediated rippling muscle disease and myasthenia gravis. 61
27725122 2016
46
Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. 61
26947586 2016
47
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. 61
27312022 2016
48
Caveolinopathies in Greece. 61
26185955 2015
49
Autoimmune acquired rippling muscle disease and myasthenia gravis. 61
25534474 2015
50
Elevated serum aminotransferases secondary to rippling muscle disease. 61
23798914 2013

Variations for Rippling Muscle Disease 2

ClinVar genetic disease variations for Rippling Muscle Disease 2:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV3 NM_033337.2(CAV3):c.314C>T (p.Pro105Leu) SNV Pathogenic 8276 rs116840805 GRCh37: 3:8787411-8787411
GRCh38: 3:8745725-8745725
2 CAV3 NM_033337.2(CAV3):c.189_197delCACCTTCAC (p.Thr64_Thr66del) Deletion Pathogenic 8277 rs199476331 GRCh37: 3:8787286-8787294
GRCh38: 3:8745597-8745605
3 CAV3 , SSUH2 NM_033337.2(CAV3):c.84C>A (p.Asp28Glu) SNV Pathogenic 8280 rs116840782 GRCh37: 3:8775646-8775646
GRCh38: 3:8733960-8733960
4 CAV3 NM_033337.2(CAV3):c.136G>A (p.Ala46Thr) SNV Pathogenic 8281 rs116840789 GRCh37: 3:8787233-8787233
GRCh38: 3:8745547-8745547
5 CAV3 NM_033337.2(CAV3):c.137C>T (p.Ala46Val) SNV Pathogenic 8282 rs116840773 GRCh37: 3:8787234-8787234
GRCh38: 3:8745548-8745548
6 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) SNV Pathogenic 8283 rs116840778 GRCh37: 3:8775642-8775642
GRCh38: 3:8733956-8733956
7 CAV3 NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) SNV Pathogenic 8284 rs28936685 GRCh37: 3:8787357-8787357
GRCh38: 3:8745671-8745671
8 CAV3 NM_001234.5(CAV3):c.290_292del (p.Phe97del) Deletion Pathogenic 8286 rs199476335 GRCh37: 3:8787385-8787387
GRCh38: 3:8745699-8745701
9 CAV3 NM_033337.2(CAV3):c.139G>A (p.Glu47Lys) SNV Pathogenic 8290 rs116840793 GRCh37: 3:8787236-8787236
GRCh38: 3:8745550-8745550
10 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Pathogenic 8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
11 CAV3 NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) SNV Likely pathogenic 8285 rs28936686 GRCh37: 3:8787374-8787374
GRCh38: 3:8745688-8745688
12 CAV3 NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) SNV Likely pathogenic 973213 GRCh37: 3:8787396-8787396
GRCh38: 3:8745710-8745710
13 CAV3 , SSUH2 NM_001234.5(CAV3):c.100G>A (p.Glu34Lys) SNV Likely pathogenic 31730 rs199476325 GRCh37: 3:8775662-8775662
GRCh38: 3:8733976-8733976
14 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr) SNV Uncertain significance 288112 rs773309037 GRCh37: 3:8787497-8787497
GRCh38: 3:8745811-8745811
15 CAV3 , SSUH2 NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) SNV Uncertain significance 931376 GRCh37: 3:8775627-8775627
GRCh38: 3:8733941-8733941
16 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Uncertain significance 8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
17 CAV3 NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) SNV Uncertain significance 8278 rs72546667 GRCh37: 3:8787263-8787263
GRCh38: 3:8745577-8745577
18 CAV3 , SSUH2 NM_033337.3(CAV3):c.27C>T (p.Leu9=) SNV Benign 31716 rs1974763 GRCh37: 3:8775589-8775589
GRCh38: 3:8733903-8733903

UniProtKB/Swiss-Prot genetic disease variations for Rippling Muscle Disease 2:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Pro105Leu VAR_001403 rs116840805
2 CAV3 p.Arg27Gln VAR_011512 rs116840778
3 CAV3 p.Ala46Thr VAR_011513 rs116840789
4 CAV3 p.Ala46Val VAR_011514 rs116840773
5 CAV3 p.Asp28Glu VAR_015374 rs116840782
6 CAV3 p.Leu87Pro VAR_016207 rs28936685
7 CAV3 p.Ala93Thr VAR_016208 rs28936686
8 CAV3 p.Asn33Lys VAR_021016 rs1008642
9 CAV3 p.Val44Glu VAR_021017 rs116840788
10 CAV3 p.Thr64Pro VAR_021018 rs199476332
11 CAV3 p.Ser53Gly VAR_029541 rs116840794

Expression for Rippling Muscle Disease 2

Search GEO for disease gene expression data for Rippling Muscle Disease 2.

Pathways for Rippling Muscle Disease 2

Pathways related to Rippling Muscle Disease 2 according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

Pathways related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 DYSF CAV3

GO Terms for Rippling Muscle Disease 2

Cellular components related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 DYSF CAV3
2 dystrophin-associated glycoprotein complex GO:0016010 8.96 SSPN CAV3
3 sarcolemma GO:0042383 8.92 SSPN DYSF CAV3 CAV2

Biological processes related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cytosolic calcium ion concentration GO:0051480 9.43 CAV3 CAV2
2 vesicle fusion GO:0006906 9.4 DYSF CAV2
3 plasma membrane organization GO:0007009 9.37 DYSF CAV3
4 muscle contraction GO:0006936 9.33 SSPN DYSF CAV3
5 fatty acid transport GO:0015908 9.32 SLC27A3 CROT
6 plasma membrane repair GO:0001778 9.26 DYSF CAV3
7 T-tubule organization GO:0033292 8.96 DYSF CAV3
8 caveola assembly GO:0070836 8.62 CAV3 CAV2

Sources for Rippling Muscle Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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