HOKPP
MCID: HYP051
MIFTS: 56

Hypokalemic Periodic Paralysis (HOKPP) malady

Genetic diseases category

Summaries for Hypokalemic Periodic Paralysis

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life.

MalaCards: Hypokalemic Periodic Paralysis, also known as periodic hypokalemic paralysis, is related to hyperthyroidism and myopathy. An important gene associated with Hypokalemic Periodic Paralysis is SCN4A (sodium channel, voltage-gated, type IV, alpha subunit), and among its related pathways are Development Ligand-independent activation of ESR1 and ESR2 and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). The compounds fpl64176 and calciseptine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, thyroid and testes, and related mouse phenotypes are skeleton and muscle.

NIH Rare Diseases:42 Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. most often, these episodes involve a temporary inability to move muscles in the arms and legs. the duration and frequency of the episodes may vary. hypokalemic periodic paralysis is caused by mutations in the cacna1s and scn4a genes which are inherited in an autosomal dominant fashion. a small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. in these cases, the cause of the condition is unknown. paralytic crises can be treated with oral or iv potassium. other management includes prevention of crises and support of specific symptoms. last updated: 9/16/2009

Wikipedia:63 Hypokalemic periodic paralysis is a rare, autosomal dominant channelopathy characterized by muscle... more...

Description from OMIM:46 170400,613345

GeneReviews summary for hpp

Aliases & Classifications for Hypokalemic Periodic Paralysis

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 46OMIM, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

hypokalemic periodic paralysis 8 19 42 21 10 44 60
periodic hypokalemic paralysis 8 20 22
familial periodic paralysis 8 42 60
hypopp 19 42 21
hokpp 19 42 21
familial hypokalemic periodic paralysis 8 21
hypokalemic familial periodic paralysis 8
primary hypokalemic periodic paralysis 21
periodic paralysis i 8
westphall disease 21
hypokpp 21


Related Diseases for Hypokalemic Periodic Paralysis

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17GeneCards, 18GeneDecks
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Diseases in the Hypokalemic Periodic Paralysis Type 1 family:

hypokalemic periodic paralysis Hypokalemic Periodic Paralysis Type 2

Diseases related to Hypokalemic Periodic Paralysis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1hyperthyroidism30.8INS
2myopathy30.7CHKB, QDPR, CLCN1, RYR1, SCN4A, CACNA1S
3malignant hyperthermia30.6CACNA1S, SCN4A, RYR1, QDPR
4myasthenia gravis30.5RYR1
5hypokalemia30.5SLC12A3, SCN4A, CACNA1S, INS
6hyperkalemic periodic paralysis30.3SCN4A, KCNJ2, KCNE3, CLCN1
7normokalemic periodic paralysis30.1SCN4A
8renal tubular acidosis10.7
9thyrotoxicosis10.6
10hypokalemic periodic paralysis type 110.6
11graves' disease10.5
12hypokalemic periodic paralysis type 210.5
13multiple sclerosis10.5
14thyroiditis10.5
15sjogren's syndrome10.4
16hypophosphatemia10.4
17adenoma10.4
18thyrotoxic periodic paralysis 110.4
19westphal disease10.3
20hyperkalemic periodic paralysis type 210.2
21membranoproliferative glomerulonephritis10.2
22wolff-parkinson-white syndrome10.2
23hyperuricemia10.2
24andersen-tawil syndrome10.2
25superior mesenteric artery syndrome10.2
26diabetes insipidus10.2
27amelogenesis imperfecta10.2
28tropical sprue10.2
29gynecomastia10.2
30hypophosphatasia10.2
31nephrogenic diabetes insipidus10.2
32facial paralysis10.2
33glomerulonephritis10.2
34hepatitis10.2
35hyperaldosteronism10.2
36influenza10.2
37pituitary adenoma10.2
38respiratory failure10.2
39hypomyelination and congenital cataract10.2
40waardenburg's syndrome10.1
41infectious mononucleosis10.1
42charcot-marie-tooth disease10.1
43tooth disease10.1
44familial periodic paralyses10.1
45periodic paralyses10.1
46familial atrial fibrillation10.0KCNE3
47paramyotonia congenita10.0SCN4A
48thomsen disease10.0CLCN1
49malignant hyperthermia susceptibility10.0CACNA1S, RYR1
50bartter disease10.0KCNJ12

Graphical network of the top 20 diseases related to Hypokalemic Periodic Paralysis:



Diseases related to hypokalemic periodic paralysis

Clinical Features for Hypokalemic Periodic Paralysis

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46OMIM
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Clinical features from OMIM:

170400,613345

Drugs & Therapeutics for Hypokalemic Periodic Paralysis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hypokalemic Periodic Paralysis

Drug clinical trials:

Search ClinicalTrials for Hypokalemic Periodic Paralysis

Search NIH Clinical Center for Hypokalemic Periodic Paralysis

Search CenterWatch for Hypokalemic Periodic Paralysis

Genetic Tests for Hypokalemic Periodic Paralysis

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20GeneTests, 22GTR
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Genetic tests related to Hypokalemic Periodic Paralysis:

id Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis20 22 SCN4A

Anatomical Context for Hypokalemic Periodic Paralysis

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32MalaCards
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MalaCards organs/tissues related to Hypokalemic Periodic Paralysis:

32
Skeletal muscle, Thyroid, Testes, Pituitary

Animal Models for Hypokalemic Periodic Paralysis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypokalemic Periodic Paralysis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.3RYR1, INS, QDPR, CHKB, CACNA1S, KCNJ2
2MP:00053697.6RYR1, ABCC9, INS, CLCN1, CHKB, SCN4A
3MP:00053867.0CLCN1, KCNJ12, CACNA1S, RYR1, INS, CHKB
4MP:00053856.8KCNJ2, CACNA1C, CACNA1D, INS, RYR1, ABCC9
5MP:00053765.9INS, RYR1, ABCC9, SLC12A3, KCNE3, CLCN1

Publications for Hypokalemic Periodic Paralysis

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50PubMed
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Articles related to Hypokalemic Periodic Paralysis:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
Hypokalemic periodic paralysis as first sign of thyrotoxicosis. (23599824)
2013
2
V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman. (23948435)
2013
3
Unilateral gynecomastia and hypokalemic periodic paralysis as first manifestations of Graves' disease. (23276903)
2013
4
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. (23019082)
2013
5
Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. (22273473)
2012
6
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. (21845430)
2012
7
Hypokalemic periodic paralysis. (23833504)
2012
8
Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. (20068442)
2011
9
The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China]. (21774221)
2011
10
Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. (21665951)
2011
11
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. (22094484)
2011
12
Hypokalemic periodic paralysis: a case series, review of the literature and update of management. (20201128)
2010
13
Hypokalemic thyrotoxic periodic paralysis with thyrotoxic psychosis and hypercapnic respiratory failure. (20581656)
2010
14
Hypokalemic periodic paralysis due to Graves Disease. (19958876)
2009
15
Thyrotoxic hypokalemic periodic paralysis: a life-threatening syndrome. (19106719)
2009
16
Atypical arrhythmic complications in familial hypokalemic periodic paralysis. (19708131)
2009
17
Reversible electrophysiological abnormalities in hypokalemic periodic paralysis. (18250508)
2008
18
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation. (17587224)
2008
19
Hypokalemic periodic paralysis as a manifestation of thyrotoxicosis. (18843860)
2008
20
Thyrotoxic hypokalemic periodic paralysis in a Turkish male with graves' disease: a rare case report and review of the literature. (16077173)
2005
21
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G). (15716625)
2005
22
Hypokalemic periodic paralysis as a presenting manifestation of thyrotoxicosis. (23377367)
2004
23
From gene to diseases; hypokalemic periodic paralysis]. (15185439)
2004
24
Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]. (15611833)
2004
25
Hypokalemic thyrotoxic periodic paralysis: a case report and review. (11924072)
2002
26
Thyrotoxic hypokalemic periodic paralysis in a Native American patient: case report and literature review. (15259121)
2002
27
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. (11558801)
2001
28
Anesthetic management of familial hypokalemic periodic paralysis during parturition. (10320173)
1999
29
Amelogenesis imperfecta and distal renal tubular acidosis presenting as hypokalemic periodic paralysis. (11225229)
1999
30
Dysfunction of sensory nerves during attacks of hypokalemic periodic paralysis. (10399749)
1999
31
Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H. (9852570)
1998
32
The calcium channel blocker verapamil in hypokalemic periodic paralysis. (9771691)
1998
33
Spinal anesthesia for a patient with a calcium channel mutation causing hypokalemic periodic paralysis. (9024050)
1997
34
Renal tubular acidosis complicated with hypokalemic periodic paralysis. (7575850)
1995
35
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. (7847370)
1995
36
Hypokalemic periodic paralysis. (8413998)
1993
37
Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci. (1330884)
1992
38
Hyperthyroid hypokalemic periodic paralysis in a Hispanic male. (2304102)
1990
39
Hypokalemic periodic paralysis: two case reports. (3054823)
1988
40
Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis. (6855804)
1983
41
Hypokalemic periodic paralysis of thyrotoxic origin: a case complicated by cultural differences. (6831341)
1983
42
Familial hypokalemic periodic paralysis. (6654789)
1983
43
Familial hypokalemic periodic paralysis in blacks. (7129944)
1982
44
Hypokalemic periodic paralysis in chronic toluene exposure. (7425895)
1980
45
Modifications in the sarcoplasmic reticulum and subcellular calcium distribution in skeletal muscle in a case of Westphal's disease (hypokalemic periodic paralysis). (158876)
1979
46
Erythrocyte membrane studies in familial hypokalemic periodic paralysis. (150837)
1978
47
Anesthetic management of hypokalemic periodic paralysis. (1190518)
1975
48
Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness. (5433278)
1970
49
The sarcoplasmic reticulum in thyrotoxic hypokalemic periodic paralysis. (5766391)
1969
50
Hypokalemic periodic paralysis. Children with permanent myopathic weakness. (5816170)
1969

Genetic Variations for Hypokalemic Periodic Paralysis

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Expression for genes affiliated with Hypokalemic Periodic Paralysis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypokalemic Periodic Paralysis

Search GEO for disease gene expression data for Hypokalemic Periodic Paralysis.

Pathways for genes affiliated with Hypokalemic Periodic Paralysis

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Sources:
12EMD Millipore, 49PharmGKB, 53Reactome, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Ligand-independent activation of ESR1 and ESR2
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10.3CACNA1S
29.8CACNA1D, CACNA1C
39.8CACNA1D, CACNA1C
4
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9.8CACNA1D, CACNA1C
5
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9.6CACNA1S, CACNA1C, CACNA1D
69.6CACNA1S, CACNA1C, CACNA1D
79.6CACNA1S, CACNA1C, CACNA1D
89.6CACNA1S, CACNA1C, CACNA1D
9
Hide members
9.6CACNA1D, CACNA1C, CACNA1S
109.6CACNA1D, CACNA1C, CACNA1S
119.6CACNA1D, CACNA1C, CACNA1S
12
Hide members
9.6CACNA1D, CACNA1C, CACNA1S
13
Hide members
9.6CACNA1D, CACNA1C, CACNA1S
14
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9.6CACNA1D, CACNA1C, CACNA1S
15
Hide members
9.6CACNA1D, CACNA1C, CACNA1S
169.4KCNJ12, KCNJ2
17
Hide members
9.3CACNA1C, CACNA1D, INS
18
Hide members
9.3CACNA1C, CACNA1D, INS
199.3CACNA1S, CACNA1C, CACNA1D, RYR1
209.3CACNA1S, CACNA1C, CACNA1D, RYR1
219.3RYR1, CACNA1D, CACNA1C, CACNA1S
22
Hide members
9.3RYR1, CACNA1D, CACNA1C, CACNA1S
23
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9.1CACNA1S, CACNA1C, CACNA1D, INS
249.1INS, CACNA1D, CACNA1C, CACNA1S
25
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9.0RYR1, QDPR, CACNA1D, CACNA1C, CACNA1S
26
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8.9SCN4A, SCN7A, CLCN1, SLC12A3
27
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8.8CACNA1S, CACNA1C, CACNA1D, INS, RYR1
28
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8.8ABCC9, KCNJ2, KCNJ12
29
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8.7CACNA1S, CACNA1C, CACNA1D, CLCN1, INS
30
Hide members
8.7CACNA1S, CACNA1C, CACNA1D, SCN4A, SCN7A
31
Hide members
8.7CACNA1S, CACNA1C, CACNA1D, SCN4A, SCN7A
328.7ABCC9, CACNA1D, CACNA1C, KCNJ2, KCNE3
338.6ABCC9, KCNJ2, KCNE3, KCNJ12
348.2KCNJ12, KCNE3, KCNJ2, CACNA1S, CACNA1C, CACNA1D
35
Hide members
8.2KCNJ12, KCNJ2, CACNA1S, CACNA1C, CACNA1D, RYR1
36
Hide members
8.1CACNA1S, CACNA1C, CACNA1D, SCN4A, SCN7A, CLCN1

Compounds for genes affiliated with Hypokalemic Periodic Paralysis

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28IUPHAR, 11DrugBank, 44Novoseek, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1fpl641762810.3CACNA1S, CACNA1C
2calciseptine2810.3CACNA1S, CACNA1C
3sz(+)-(s)-202-7912810.3CACNA1S, CACNA1C
4Magnesium Sulfate1110.3CACNA1C, CACNA1S
5dantrolene44 28 1112.1RYR1, CHKB
6succinylcholine44 28 1112.1SCN4A, CHKB, RYR1
7[3h](+)-isradipine2810.0CACNA1D, CACNA1C, CACNA1S
8(-)-(s)-bayk86442810.0CACNA1S, CACNA1C, CACNA1D
9Clevidipine1110.0CACNA1S, CACNA1C, CACNA1D
10nisoldipine44 28 1112.0CACNA1S, CACNA1C, CACNA1D
11(+-)-bay k 86445910.0CACNA1S, CACNA1C, CACNA1D
12nnc 55-0396 dihydrochloride5910.0CACNA1S, CACNA1C, CACNA1D
13ryanodine44 28 5912.0CACNA1S, QDPR, RYR1
14mibefradil dihydrochloride5910.0CACNA1S, CACNA1C, CACNA1D
15omega-conotoxin gvia5910.0CACNA1S, CACNA1C, CACNA1D
16pregabalin59 44 1112.0CACNA1S, CACNA1C, CACNA1D
17Cinnarizine1110.0CACNA1S, CACNA1C, CACNA1D
18diltiazem44 28 1112.0CHKB, CACNA1C, CACNA1S
19nilvadipine44 1111.0CACNA1S, CACNA1C, CACNA1D
20isradipine44 28 1112.0CACNA1S, CACNA1C, CACNA1D
21nimodipine44 28 1112.0CACNA1S, CACNA1C, CACNA1D
22Dronedarone119.9CACNA1D, CACNA1C, CACNA1S
23nitrendipine44 49 28 1112.9CACNA1S, CACNA1C, CACNA1D
24felodipine44 28 1111.9CACNA1D, CACNA1C, CACNA1S
25mibefradil44 28 1111.9CACNA1S, CACNA1C, CACNA1D
26amlodipine44 49 11 2412.9CACNA1S, CACNA1C, CACNA1D
27mgadp449.9ABCC9, CHKB
28lead449.8CHKB, QDPR, RYR1
29meglitinide449.8ABCC9, INS
30beta-hydroxybutyrate449.7CHKB, INS
31dihydropyridine449.7RYR1, QDPR, SCN4A, CACNA1C, CACNA1S
32mgatp449.7CHKB, RYR1, ABCC9
33chloride449.6SCN4A, CLCN1, RYR1, SLC12A3
34chlorine44 2410.5KCNE3, CLCN1, SLC12A3
35p1075599.5KCNJ12, KCNJ2
36levcromakalim599.5KCNJ12, KCNJ2
37gliclazide44 49 1111.5ABCC9, INS
38nifedipine44 49 28 1112.5RYR1, QDPR, CACNA1D, CACNA1C, CACNA1S
39mg2+289.5KCNJ12, KCNJ2, RYR1
40tertiapin-q599.5KCNJ12, KCNJ2
41verapamil44 49 28 11 2413.5CACNA1D, CACNA1C, CACNA1S
42tacrolimus44 49 1111.5CHKB, QDPR, INS, RYR1
43norepinephrine44 11 2411.4RYR1, INS, QDPR, CHKB
44glimepiride44 49 1111.2ABCC9, INS
45arginine449.0KCNJ2, CACNA1S, SCN4A, CHKB, INS, RYR1
46glibenclamide44 28 49 5911.8KCNJ12, KCNJ2, INS, ABCC9
47sodium44 249.7CACNA1S, CACNA1D, SCN4A, SCN7A, CLCN1, SLC12A3
48diazoxide44 59 28 1111.5KCNJ12, KCNJ2, INS, ABCC9, SLC12A3
49potassium44 11 249.9KCNJ12, KCNE3, KCNJ2, SCN4A, CHKB, RYR1
50calcium44 49 11 2410.6KCNJ2, CACNA1S, CACNA1C, CACNA1D, SCN4A, SCN7A

GO Terms for genes affiliated with Hypokalemic Periodic Paralysis

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16Gene Ontology
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Cellular components related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:03167410.0RYR1, CACNA1S
2voltage-gated calcium channel complexGO:0058919.6CACNA1D, CACNA1C, CACNA1S
3voltage-gated sodium channel complexGO:0015189.3SCN7A, SCN4A
4intrinsic to membraneGO:0312249.3KCNJ12, KCNJ2
5plasma membraneGO:0058866.7KCNJ18, KCNJ12, KCNJ2, CACNA1S, CACNA1C, CACNA1D

Biological processes related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.0KCNJ2, CACNA1D
2potassium ion importGO:0101079.8ABCC9, KCNJ2
3regulation of heart rate by cardiac conductionGO:0860919.8CACNA1D, KCNJ2
4calcium ion transportGO:0068169.6RYR1, CACNA1D, CACNA1S
5sodium ion transportGO:0068149.5SLC12A3, SCN7A, SCN4A
6regulation of insulin secretionGO:0507969.4CACNA1C, CACNA1D, INS
7energy reserve metabolic processGO:0061129.2CACNA1C, CACNA1D, INS
8potassium ion transportGO:0068138.8ABCC9, KCNJ2, KCNJ12
9synaptic transmissionGO:0072688.2ABCC9, CACNA1C, KCNJ2, KCNJ12
10muscle contractionGO:0069368.2RYR1, CLCN1, SCN7A, SCN4A, CACNA1S, KCNJ12

Molecular functions related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:0052489.6SCN7A, SCN4A
2high voltage-gated calcium channel activityGO:0083319.6CACNA1D, CACNA1C, CACNA1S
3alpha-actinin bindingGO:0513939.5CACNA1D, CACNA1C
4voltage-gated calcium channel activityGO:0052459.4RYR1, CACNA1D, CACNA1C, CACNA1S
5inward rectifier potassium channel activityGO:0052429.0KCNJ18, KCNJ12, KCNJ2

Products for genes affiliated with Hypokalemic Periodic Paralysis

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Sources for Hypokalemic Periodic Paralysis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet