MCID: PCH001
MIFTS: 54

Pachyonychia Congenita malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases categories

Summaries for Pachyonychia Congenita

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NIH Rare Diseases:41 Pachyonychia congenita (pc) is a rare inherited condition that primarily affects the nails and skin. the fingernails and toenails may be thickened and abnormally shaped. affected individuals also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. features may vary among affected individuals depending on their specific mutation. pc is divided into 5 types based on the specific keratin gene involved: pc-k6a, pc-k6b, pc-k6c, pc-k16, and pc-k17. more than 100 mutations in these genes have been found to cause pc. last updated: 6/5/2014

MalaCards based summary: Pachyonychia Congenita, also known as pachyonychia congenita syndrome, is related to steatocystoma multiplex and pachyonychia congenita 2, and has symptoms including hyperhidrosis, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Pachyonychia Congenita is KRT6B (keratin 6B), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compounds acitretin and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and liver, and related mouse phenotypes are pigmentation and digestive/alimentary.

Genetics Home Reference:21 Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life, although a rare form of the condition known as pachyonychia congenita tarda appears in adolescence or early adulthood.

Wikipedia:63 Pachyonychia congenita is an autosomal dominant skin disorder. more...

GeneReviews summary for pc

Aliases & Classifications for Pachyonychia Congenita

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Sources:
9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pachyonychia Congenita, Aliases & Descriptions:

Name: Pachyonychia Congenita 9 19 41 21 11 47 60
Pachyonychia Congenita Syndrome 41 20 21
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 9 10
Pachyonychia Congenita, Type 1 43 22
Congenital Pachyonychia 41 21
Pc 41 47
Pachyonychia Congenita, Jadassohn Lewandowsky Type 60
 
Pachyonychia Congenita, Jackson-Lawler Type 10
Jackson-Lawler Type Pachyonychia Congenita 9
Jadassohn-Lewandowsky Syndrome 9
Pachyonychia Congenita, Type 2 60
Jadassohn-Lewandowski Syndrome 21
Pachyonychia Congenita Type 1 9
Jackson-Lawler Syndrome 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

47
pachyonychia congenita:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0050449
MeSH33 D053549
Orphanet47 2309
MESH via Orphanet34 D053549
ICD10 via Orphanet26 Q84.5
UMLS via Orphanet61 C0265334

Related Diseases for Pachyonychia Congenita

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Diseases in the Pachyonychia Congenita family:

Pachyonychia Congenita 3 Pachyonychia Congenita 4
Pachyonychia Congenita 1 Pachyonychia Congenita 2
Krt16-Related Pachyonychia Congenita Krt17-Related Pachyonychia Congenita
Krt6a-Related Pachyonychia Congenita Krt6b-Related Pachyonychia Congenita

Diseases related to Pachyonychia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1steatocystoma multiplex31.6KRT16, KRT17
2pachyonychia congenita 231.6KRT17, KRT6B
3pachyonychia congenita 131.5KRT6A, KRT16
4keratoderma31.1KRT16, KRT9, KRT17
5median rhomboid glossitis30.8KRT6B, KRT6A
6epidermolysis bullosa30.5KRT5, FLG
7epidermolysis bullosa simplex29.2KRT5, KRT16, KRT9, KRT86, KRT2, KRT81
8pachyonychia congenita 310.6
9pachyonychia congenita 410.6
10laryngitis10.5
11ectodermal dysplasia10.4KRT17
12alopecia10.4
13krt16-related pachyonychia congenita10.4
14krt17-related pachyonychia congenita10.4
15krt6a-related pachyonychia congenita10.4
16krt6b-related pachyonychia congenita10.4
17focal palmoplantar keratoderma10.4
18palmoplantar keratoderma, nonepidermolytic10.4KRTAP11-1
19hidradenitis suppurativa10.3
20hidradenitis10.3
21ichthyosis, x-linked10.3FLG
22monilethrix10.3KRT81, KRT86
23congenital ichthyosiform erythroderma10.3FLG
24contact dermatitis10.2KRT16, FLG
25palmoplantar keratosis10.2GJB6, KRT9
26epidermolytic hyperkeratosis10.2KRT5, FLG
27unna-thost palmoplantar keratoderma10.2KRT17, KRT9, KRT16
28palmoplantar keratoderma, epidermolytic10.2KRT17, KRT9, KRT16
29b-cell lymphomas10.2
30fissured tongue10.2
31tuberous sclerosis10.2
32atopic dermatitis10.2
33patent ductus arteriosus10.2
34amyloidosis10.2
35candidiasis10.2
36cheilitis10.2
37corneal dystrophy10.2
38dermatitis10.2
39glossitis10.2
40twenty-nail dystrophy10.2
41bowen syndrome10.1FLG, KRT17, KRT16
42lichen planus10.1KRT16, FLG
43hypertrophic scars10.1KRT5, KRT16, FLG
44cholesteatoma10.1FLG, KRT16
45sebocystomatosis10.1
46papilloma10.1KRT5, FLG
47bullous pemphigoid10.0KRT5, FLG
48psoriasis10.0KRT5, KRT16, KRT17, FLG
49white sponge nevus 19.9KRT6B, KRT2, KRTAP11-1, KRT9, KRT6A
50keratosis9.9FLG, KRT6B, KRT86, KRT6A, KRT16

Graphical network of the top 20 diseases related to Pachyonychia Congenita:



Diseases related to pachyonychia congenita

Symptoms for Pachyonychia Congenita

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Symptoms:

 47 (show all 25)
  • hyperhidrosis/increased sweating
  • palmoplantar hyperkeratosis/keratoderma
  • enanthema/aphtosa/aphta/leukoplakia
  • hair and scalp anomalies
  • nails anomalies
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • abnormal nails colour/leukonychia/melanonychia
  • autosomal dominant inheritance
  • anomalies of teeth and dentition
  • multiple caries
  • ichthyosis/ichthyosiform dermatitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • skin tumors/lumps/epidermal cysts
  • absent/small fingernails/anonychia of hands
  • corneal dystrophy
  • cataract/lens opacification
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • abnormal fingernails
  • hepatomegaly/liver enlargement (excluding storage disease)
  • laryngomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance

HPO human phenotypes related to Pachyonychia Congenita:

(show all 18)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 palmoplantar keratoderma hallmark (90%) HP:0000982
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 abnormality of the toenail hallmark (90%) HP:0008388
5 abnormality of nail color hallmark (90%) HP:0100643
6 carious teeth typical (50%) HP:0000670
7 anonychia typical (50%) HP:0001798
8 ichthyosis typical (50%) HP:0008064
9 abnormal blistering of the skin typical (50%) HP:0008066
10 neoplasm of the skin typical (50%) HP:0008069
11 cataract occasional (7.5%) HP:0000518
12 corneal dystrophy occasional (7.5%) HP:0001131
13 abnormality of the fingernails occasional (7.5%) HP:0001231
14 alopecia occasional (7.5%) HP:0001596
15 laryngomalacia occasional (7.5%) HP:0001601
16 respiratory insufficiency occasional (7.5%) HP:0002093
17 hepatomegaly occasional (7.5%) HP:0002240
18 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Pachyonychia Congenita

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Drug clinical trials:

Search ClinicalTrials for Pachyonychia Congenita

Search NIH Clinical Center for Pachyonychia Congenita

Genetic Tests for Pachyonychia Congenita

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Genetic tests related to Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita20 KRT6B
2 Pachyonychia Congenita, Type 122

Anatomical Context for Pachyonychia Congenita

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MalaCards organs/tissues related to Pachyonychia Congenita:

31
Skin, Tongue, Liver, Lung, B cells

Animal Models for Pachyonychia Congenita or affiliated genes

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MGI Mouse Phenotypes related to Pachyonychia Congenita:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6KRT9, KRT2, KRT17
2MP:00053818.9KRT16, PCSK5, KRT6B, KRT6A, KRT17, KRT5
3MP:00053778.9KRT2, GJB6, FZD6, FLG
4MP:00053718.6KRT2, PCSK5, KRT5, FZD6, KRT9
5MP:00053868.5KRT16, GJB6, KRT6B, KRT9, KRT6A, KRT5
6MP:00053828.2KRT6B, KRT17, FLG, KRT2, KRT6A, KRT16
7MP:00107687.9FZD6, KRT6B, KRT6A, PCSK5, KRT16, FLG
8MP:00107717.8KRT16, KRT9, KRT6B, KRT17, FZD6, FLG

Publications for Pachyonychia Congenita

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Articles related to Pachyonychia Congenita:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. (24842198)
2014
2
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. (23855588)
2013
3
Pachyonychia congenita type 2: an unusual presentation. (23249838)
2013
4
Pachyonychia congenita tarda: A rare case report. (24124319)
2013
5
Best treatment practices for pachyonychia congenita. (23363249)
2013
6
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. (22264670)
2012
7
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. (22098151)
2012
8
Pachyonychia congenita-associated alopecia. (23056978)
2012
9
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. (22668561)
2012
10
Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting. (21494242)
2011
11
Development of skin-humanized mouse models of pachyonychia congenita. (21150925)
2011
12
Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. (21576551)
2011
13
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. (21160496)
2011
14
Do you know this syndrome? Pachyonychia congenita. (22281922)
2011
15
Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. (21390048)
2011
16
The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]. (20140871)
2010
17
Oral manifestations of pachyonychia congenita. (21062597)
2010
18
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (19416275)
2009
19
Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. (19699613)
2009
20
Pachyonychia congenita tarda affecting only the nails. (18700115)
2008
21
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (17851587)
2008
22
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. (18495438)
2008
23
Therapeutic interference: a step closer for pachyonychia congenita? (18071332)
2008
24
Pachyonychia congenita with unusual dental findings: a case report. (17577549)
2007
25
Mouse models in preclinical studies for pachyonychia congenita. (16250208)
2005
26
Pachyonychia congenita. Case report. (16456523)
2005
27
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. (15102078)
2004
28
Clouston syndrome can mimic pachyonychia congenita. (14708603)
2003
29
Pachyonychia congenita affecting only the nails. (11860585)
2002
30
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (11874497)
2002
31
Pachyonychia congenita: a case report. (11841652)
2001
32
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
33
Avoiding Pachyonychia congenita using oocyte donation. (10026421)
1999
34
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
35
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (7539673)
1995
36
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (7545493)
1995
37
Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. (7729988)
1995
38
Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. (1827243)
1991
39
Etretinate-responsive pachyonychia congenita. (3191023)
1988
40
Pachyonychia congenita (Jadassohn-Lewandowsky syndrome). A review of 14 cases in Slovenia. (6456161)
1981
41
The pachyonychia congenita syndrome. (6153833)
1980
42
Cornoid lamella in pachyonychia congenita. (736589)
1978
43
Pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization. (74170)
1977
44
Pachyonychia congenita and steatocystoma multiplex. (577197)
1977
45
Pachyonychia congenita with cardiac involvement. (140628)
1977
46
Pachyonychia congenita in father and son. (5173283)
1971
47
Pachyonychia congenita with metacarpal-phalangeal agenesis in a dog. (5199077)
1970
48
Sodium laevothyroxine in pachyonychia congenita. (5705304)
1968
49
Oral lesions accompanying pachyonychia congenita. (13553304)
1958
50
Pachyonychia Congenita (Jadassohn and Lewandowski). (19991775)
1939

Variations for Pachyonychia Congenita

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Clinvar genetic disease variations for Pachyonychia Congenita:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1KRT17NM_000422.2(KRT17): c.274A> G (p.Asn92Asp)single nucleotide variantPathogenicrs28928896GRCh37Chr 17, 39780488: 39780488
2KRT17NM_000422.2(KRT17): c.275A> G (p.Asn92Ser)single nucleotide variantPathogenicrs59151893GRCh37Chr 17, 39780487: 39780487
3KRT17NM_000422.2(KRT17): c.292T> G (p.Tyr98Asp)single nucleotide variantPathogenicrs28933088GRCh37Chr 17, 39780470: 39780470
4KRT17NM_000422.2(KRT17): c.281G> A (p.Arg94His)single nucleotide variantPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
5KRT17NM_000422.2(KRT17): c.280C> T (p.Arg94Cys)single nucleotide variantPathogenicrs58730926GRCh37Chr 17, 39780482: 39780482
6KRT17NM_000422.2(KRT17): c.263T> C (p.Met88Thr)single nucleotide variantPathogenicrs28928898GRCh37Chr 17, 39780499: 39780499
7KRT17NM_000422.2(KRT17): c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del)deletionPathogenicGRCh37Chr 17, 39780467: 39780481
8KRT17NM_000422.2(KRT17): c.281G> C (p.Arg94Pro)single nucleotide variantPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
9KRT17NM_000422.2(KRT17): c.284T> A (p.Leu95Gln)single nucleotide variantPathogenicrs28928899GRCh37Chr 17, 39780478: 39780478
10KRT17NM_000422.2(KRT17): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs28928899GRCh37Chr 17, 39780478: 39780478
11KRT17NM_000422.2(KRT17): c.289_291delTCC (p.Ser97del)deletionPathogenicrs121912478GRCh37Chr 17, 39780471: 39780473
12KRT17NM_000422.2(KRT17): c.296T> C (p.Leu99Pro)single nucleotide variantPathogenicrs28933089GRCh37Chr 17, 39780466: 39780466
13KRT17NM_000422.2(KRT17): c.304G> A (p.Val102Met)single nucleotide variantPathogenicrs59977263GRCh37Chr 17, 39780458: 39780458
14KRT16NM_005557.3(KRT16): c.395T> C (p.Leu132Pro)single nucleotide variantPathogenicrs60944949GRCh37Chr 17, 39768546: 39768546
15KRT16NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del)deletionPathogenicrs58181827GRCh37Chr 17, 39768550: 39768552
16KRT16NM_005557.3(KRT16): c.380G> C (p.Arg127Pro)single nucleotide variantPathogenicrs57424749GRCh37Chr 17, 39768561: 39768561
17KRT16NM_005557.3(KRT16): c.365A> C (p.Gln122Pro)single nucleotide variantPathogenicrs59349773GRCh37Chr 17, 39768576: 39768576
18KRT16NM_005557.3(KRT16): c.371T> G (p.Leu124Arg)single nucleotide variantPathogenicrs58293603GRCh37Chr 17, 39768570: 39768570
19KRT16NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn)single nucleotide variantPathogenicrs59328451GRCh37Chr 17, 39766801: 39766801
20KRT16NM_005557.3(KRT16): c.362T> C (p.Met121Thr)single nucleotide variantPathogenicrs28928894GRCh37Chr 17, 39768579: 39768579
21KRT16NM_005557.3(KRT16): c.383T> A (p.Leu128Gln)single nucleotide variantPathogenicrs28928895GRCh37Chr 17, 39768558: 39768558
22KRT6BNM_005555.3(KRT6B): c.1414G> A (p.Glu472Lys)single nucleotide variantPathogenicrs60627726GRCh37Chr 12, 52841572: 52841572
23KRT6ANM_005554.3(KRT6A): c.516_518delCAA (p.Asn172del)deletionPathogenicrs267607459GRCh37Chr 12, 52886455: 52886457
24KRT6ANM_005554.3(KRT6A): c.520T> G (p.Phe174Val)single nucleotide variantPathogenicrs28933087GRCh37Chr 12, 52886453: 52886453
25KRT6ANM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys)single nucleotide variantPathogenicrs60554162GRCh37Chr 12, 52882122: 52882122
26KRT6ANM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg)single nucleotide variantPathogenicrs57052654GRCh37Chr 12, 52882130: 52882130
27KRT6ANM_005554.3(KRT6A): c.511A> G (p.Asn171Asp)single nucleotide variantPathogenicrs62635294GRCh37Chr 12, 52886462: 52886462
28KRT6ANM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr)single nucleotide variantPathogenicrs62635294GRCh37Chr 12, 52886462: 52886462
29KRT6ANM_005554.3(KRT6A): c.512A> G (p.Asn171Ser)single nucleotide variantPathogenicrs58556099GRCh37Chr 12, 52886461: 52886461
30KRT6ANM_005554.3(KRT6A): c.513C> A (p.Asn171Lys)single nucleotide variantPathogenicrs59685571GRCh37Chr 12, 52886460: 52886460

Expression for genes affiliated with Pachyonychia Congenita

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Search GEO for disease gene expression data for Pachyonychia Congenita.

Pathways for genes affiliated with Pachyonychia Congenita

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Pathways related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KRT5, KRT6A, KRT6B, KRT17
29.2KRT5, KRT16, KRT6A, KRT2, KRT17

Compounds for genes affiliated with Pachyonychia Congenita

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Sources:
43Novoseek, 12DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
See all sources

Compounds related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1acitretin43 1211.0KRT17, KRT5
2dithranol439.9FLG, KRT16
3paraffin439.7KRT16, KRT5, KRT17
4calcipotriol43 59 28 1212.7KRT5, KRT16, FLG
5histidine439.3FLG, KRT9, KRT5
6retinoid439.2KRT16, KRT2, KRT17, FLG, KRT5
7retinoic acid43 2410.1KRT5, KRT16, KRT2, KRT17, FLG
8serine438.6KRT5, KRT16, KRT17, FLG, PCSK5

GO Terms for genes affiliated with Pachyonychia Congenita

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Cellular components related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.7PCSK5, KRT81, KRT2, KRT86, KRT9
2extracellular vesicular exosomeGO:00700628.3KRT16, KRT6A, KRT9, KRT2, KRT6B, KRT5
3intermediate filamentGO:00058827.7KRT17, FLG, KRT2, KRTAP17-1, KRT5, KRT16
4keratin filamentGO:00450957.4KRT6A, KRT5, KRTAP11-1, KRT72, KRT86, KRT2

Biological processes related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.9KRT2, KRT17
2intermediate filament organizationGO:00451099.8KRT9, KRT17
3ectoderm developmentGO:00073989.7KRT6B, KRT6A
4epidermis developmentGO:00085449.1KRT2, KRT5, KRT16, KRT9, KRT17

Molecular functions related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052008.3KRT17, KRT6B, KRT2, KRT9, KRT6A, KRT16
2structural molecule activityGO:00051988.1FLG, KRT81, KRT86, KRT72, KRTAP11-1

Products for genes affiliated with Pachyonychia Congenita

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pachyonychia Congenita

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet