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, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 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:00053908.3CACNA1S, CHKB, QDPR, CLCN1, INS, RYR1
2MP:00053697.6ABCC9, KCNJ2, CACNA1S, CACNA1C, SCN4A, CHKB
3MP:00053867.0KCNJ12, CACNA1S, CACNA1C, CACNA1D, SCN4A, CHKB
4MP:00053856.8KCNJ12, KCNJ2, CACNA1C, CACNA1D, INS, RYR1
5MP:00053765.9CACNA1C, CACNA1S, KCNJ2, KCNE3, KCNJ12, CACNA1D

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
Sjogren's syndrome presenting with hypokalemic periodic paralysis. (23405545)
2012
2
Betamethasone-induced hypokalemic periodic paralysis in pregnancy. (21252779)
2011
3
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis. (21881211)
2011
4
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations. (20660662)
2010
5
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (19118277)
2009
6
Anaesthetic management of a patient with hypokalemic periodic paralysis- a case report. (20640129)
2009
7
Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency. (17556873)
2007
8
Potassium chloride supplementation alone may not improve hypokalemia in thyrotoxic hypokalemic periodic paralysis. (17394988)
2007
9
Myasthenia gravis accompanied with hypokalemic periodic paralysis. (16756062)
2006
10
Thyrotoxic hypokalemic periodic paralysis as the first manifestation of interferon-alpha-induced Graves disease. (17016146)
2006
11
A case of Gitelman's syndrome presenting with severe hypocalcaemia and hypokalemic periodic paralysis]. (16078592)
2005
12
Inadvertent iodine excess causing thyrotoxic hypokalemic periodic paralysis. (16314553)
2005
13
Thyrotropin-secreting pituitary adenoma presenting as hypokalemic periodic paralysis. (12544087)
2003
14
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. (12414843)
2002
15
Hypokalemic periodic paralysis associated with malignant hyperthermia. (11870726)
2002
16
Acetazolamide-induced muscle weakness in hypokalemic periodic paralysis. (12322805)
2002
17
A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree]. (11808349)
2001
18
Thyrotoxic hypokalemic periodic paralysis reversed by propranolol without rebound hyperkalemia. (11275839)
2001
19
Hypokalemic periodic paralysis in pregnancy after 1-hour glucose screen. (10808024)
2000
20
Nonfamilial hypokalemic periodic paralysis and thyrotoxicosis in a 16-year-old male. (9282719)
1997
21
Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families]. (9436445)
1997
22
Secondary hypokalemic periodic paralysis. (10999069)
1996
23
Triiodothyronine (T3) toxicosis with hypokalemic periodic paralysis and ventricular tachycardia. (7616149)
1995
24
A calcium channel mutation causing hypokalemic periodic paralysis. (7987325)
1994
25
Hypokalemic Periodic Paralysis (20301512)
1993
26
A 23Na-NMR study on cation transport systems in a patient with hypokalemic periodic paralysis. (8390085)
1993
27
Diagnosis of familial hypokalemic periodic paralysis: role of the potassium exercise test. (1436528)
1992
28
Chronic active hepatitis with renal tubular acidosis presenting as hypokalemic periodic paralysis with respiratory failure. (1392378)
1992
29
Thyrotoxic hypokalemic periodic paralysis in a white man. (1948235)
1991
30
Enhancement of K+ conductance improves in vitro the contraction force of skeletal muscle in hypokalemic periodic paralysis. (2345562)
1990
31
Hypokalemic periodic paralysis due to the SjAPgren syndrome in Chinese patients. (2916810)
1989
32
Long-standing bidirectional tachycardia in a patient with hypokalemic periodic paralysis. (3351412)
1988
33
Familial hypokalemic periodic paralysis. (3185605)
1988
34
Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (2). (3550012)
1987
35
Hypokalemic periodic paralysis. (3794279)
1986
36
Angiotensin I level and sporadic hypokalemic periodic paralysis. (3021078)
1986
37
Dissociation of glucose and potassium arterial-venous differences across the forearm by acetazolamide. A possible relationship to acetazolamide's beneficial effect in hypokalemic periodic paralysis. (6689885)
1984
38
Generalized epilepsy in a patient with hypokalemic periodic paralysis and cardiac arrhythmia. (6865105)
1983
39
The relationship of insulin receptors to hypokalemic periodic paralysis. (6341831)
1983
40
Multiple sclerosis and hypokalemic periodic paralysis in the same patient. (7103806)
1982
41
Hypokalemic periodic paralysis in SjAPgren's syndrome. (7305577)
1981
42
Postoperative hypokalemic periodic paralysis: case report. (7383231)
1980
43
Hypokalemic periodic paralysis in primary hyperaldosteronism. Subclinical myopathy with atrophy of the type 2A muscle fibers. (546663)
1979
44
Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis. (421555)
1979
45
The effect of acidosis in hypokalemic periodic paralysis. (985160)
1976
46
Acetazolamide treatment in hypokalemic periodic paralysis: a metabolic and electromyographic study. (4742365)
1973
47
Ultrastructural changes in hypokalemic periodic paralysis. (4334608)
1971
48
Thyrotoxicosis and hypokalemic periodic paralysis. (5361477)
1969
49
Thyrotoxic hypokalemic periodic paralysis. Muscle morphology and functional assay of sarcoplasmic reticulum. (5772547)
1969
50
CLINICAL AND ELECTROMYOGRAPHIC STUDIES IN A PATIENT WITH PRIMARY HYPOKALEMIC PERIODIC PARALYSIS. (14271747)
1965

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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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
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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
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9.3CACNA1C, CACNA1D, INS
199.3CACNA1S, CACNA1C, CACNA1D, RYR1
209.3CACNA1S, CACNA1C, CACNA1D, RYR1
219.3RYR1, CACNA1D, CACNA1C, CACNA1S
22
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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
Hide members
8.7CACNA1S, CACNA1C, CACNA1D, CLCN1, INS
30
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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 1112.1CHKB, RYR1
6succinylcholine44 28 1112.1RYR1, CHKB, SCN4A
7[3h](+)-isradipine2810.0CACNA1S, CACNA1C, CACNA1D
8(-)-(s)-bayk86442810.0CACNA1S, CACNA1C, CACNA1D
9Clevidipine1110.0CACNA1S, CACNA1C, CACNA1D
10nisoldipine44 28 1112.0CACNA1S, CACNA1D, CACNA1C
11(+-)-bay k 86445910.0CACNA1C, CACNA1S, CACNA1D
12nnc 55-0396 dihydrochloride5910.0CACNA1C, CACNA1D, CACNA1S
13ryanodine44 28 5912.0RYR1, QDPR, CACNA1S
14mibefradil dihydrochloride5910.0CACNA1S, CACNA1C, CACNA1D
15omega-conotoxin gvia5910.0CACNA1S, CACNA1C, CACNA1D
16pregabalin59 44 1112.0CACNA1S, CACNA1C, CACNA1D
17isradipine44 28 1112.0CACNA1C, CACNA1D, CACNA1S
18diltiazem44 28 1112.0CHKB, CACNA1C, CACNA1S
19nilvadipine44 1111.0CACNA1D, CACNA1C, CACNA1S
20Cinnarizine1110.0CACNA1S, CACNA1D, CACNA1C
21nimodipine44 28 1112.0CACNA1S, CACNA1D, CACNA1C
22Dronedarone119.9CACNA1C, CACNA1S, CACNA1D
23nitrendipine44 49 28 1112.9CACNA1D, CACNA1C, CACNA1S
24felodipine44 28 1111.9CACNA1S, CACNA1C, CACNA1D
25mibefradil44 28 1111.9CACNA1D, CACNA1C, CACNA1S
26amlodipine44 49 11 2412.9CACNA1S, CACNA1C, CACNA1D
27mgadp449.9CHKB, ABCC9
28beta-hydroxybutyrate449.9INS, CHKB
29lead449.8CHKB, QDPR, RYR1
30meglitinide449.8INS, ABCC9
31dihydropyridine449.7RYR1, QDPR, SCN4A, CACNA1C, CACNA1S
32mgatp449.7CHKB, RYR1, ABCC9
33chloride449.6CLCN1, RYR1, SLC12A3, SCN4A
34chlorine44 2410.5CLCN1, KCNE3, SLC12A3
35levcromakalim599.5KCNJ2, KCNJ12
36gliclazide44 49 1111.5INS, ABCC9
37nifedipine44 49 28 1112.5CACNA1S, CACNA1C, CACNA1D, RYR1, QDPR
38mg2+289.5KCNJ12, KCNJ2, RYR1
39p1075599.5KCNJ12, KCNJ2
40verapamil44 49 28 11 2413.5CACNA1C, CACNA1D, CACNA1S
41tacrolimus44 49 1111.5CHKB, INS, RYR1, QDPR
42tertiapin-q599.4KCNJ2, KCNJ12
43norepinephrine44 11 2411.4INS, RYR1, QDPR, CHKB
44glimepiride44 49 1111.2INS, ABCC9
45arginine449.0SCN4A, CHKB, INS, RYR1, KCNJ2, CACNA1S
46glibenclamide44 28 49 5911.8KCNJ12, INS, ABCC9, KCNJ2
47sodium44 249.7CACNA1D, SCN7A, CLCN1, SLC12A3, SCN4A, CACNA1S
48diazoxide44 59 28 1111.5ABCC9, KCNJ2, KCNJ12, SLC12A3, INS
49potassium44 11 249.9ABCC9, RYR1, CHKB, SCN4A, KCNJ2, KCNJ12
50calcium44 49 11 2410.6SCN7A, SCN4A, SLC12A3, KCNJ2, CHKB, CACNA1C

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