MCID: NTH001
MIFTS: 52

Netherton Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases

Aliases & Classifications for Netherton Syndrome

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Aliases & Descriptions for Netherton Syndrome:

Name: Netherton Syndrome 50 11 46 23 24 13 52 68 12 48 37
Netherton Disease 46 23 24 68 25
Neth 46 23 24 68
Ns 23 24 52 68
Ichthyosis Linearis Circumflexa 23 24 66
Comel-Netherton Syndrome 24 68
 
Bamboo Hair Syndrome 24 52
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 68
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 24
Comèl-Netherton Syndrome 52
Ilc 24
Nts 68

Characteristics:

Orphanet epidemiological data:

52
netherton syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
netherton syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 256500
Disease Ontology11 DOID:0050474
MeSH37 D056770
NCIt43 C84922
Orphanet52 ORPHA634
ICD10 via Orphanet29 Q80.8
MedGen35 C0265962

Summaries for Netherton Syndrome

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Genetics Home Reference:24 Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.

MalaCards based summary: Netherton Syndrome, also known as netherton disease, is related to ichthyosis vulgaris and colorectal cancer, and has symptoms including acanthosis nigricans, eczema and urticaria. An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5), and among its related pathways are Matrix Metalloproteinases and Degradation of the extracellular matrix. Affiliated tissues include skin, kidney and eye.

NIH Rare Diseases:46 Netherton syndrome is a type of ichthyosis. symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma).  symptoms may be mild or severe and tend to present in infancy. failure to thrive and recurrent infection are possible complications in infants with this syndrome. netherton syndrome is caused by mutations in the spink5 gene. it is inherited in an autosomal recessive fashion. the goals of treatment are to manage symptoms and prevent skin infections and other complications. this may include the use of lotions and creams, antibiotics, topical steroids and other therapies. last updated: 4/21/2016

UniProtKB/Swiss-Prot:68 Netherton syndrome: An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.

Wikipedia:69 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Description from OMIM:50 256500

Related Diseases for Netherton Syndrome

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Diseases related to Netherton Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris29.9FLG, TGM1
2colorectal cancer11.5
3pancreatic cancer11.1
4schizophrenia11.0
5gastroesophageal reflux11.0
65-nucleotidase syndrome11.0
7sudden infant death syndrome11.0
8zollinger-ellison syndrome11.0
9short bowel syndrome11.0
10obstructive jaundice11.0
11dumping syndrome11.0
12neuroendocrine tumor11.0
13constipation11.0
14duodenogastric reflux11.0
15vipoma11.0
16pancreatoblastoma11.0
17hypertension, essential10.9
18parkinson disease, late-onset10.9
19nicotine dependence, protection against10.9
20autistic disorder10.9
21foodborne botulism10.9
22infant botulism10.9
23oropouche fever10.9
24neuronal intestinal dysplasia10.9
25functional diarrhea10.9
26duodenal benign neoplasm10.9
27space motion sickness10.9
28hepatocellular fibrolamellar carcinoma10.9
29amphetamine abuse10.9
30postgastrectomy syndrome10.9
31carcinoid syndrome10.9
32pancreatic islet cell tumors10.9
33pain agnosia10.7
34peripheral nervous system neoplasm10.7
35autonomic nervous system neoplasm10.7
36agnosia10.7
37rectosigmoid junction neoplasm10.4FLG, PI3
38ichthyosis, autosomal recessive 4b10.3FLG, TGM1
39haim-munk syndrome10.2CTSG, SPINK5
40dermatitis herpetiformis10.2ELANE, PI3
41placenta praevia10.2ELANE, PI3
42brucella abortus brucellosis10.2ELANE, PI3
43lemierre's syndrome10.2ELANE, PI3
44cardiomyopathy10.1
45marchiafava bignami disease10.1ELANE, PI3
46hepatic angiomyolipoma10.1FLG, KLK7, SPINK5
47complex partial epilepsy10.1ELANE, PI3
48freemartinism10.1ELANE, FLG
49bscl2-related neurologic disorders/seipinopathy10.1SPINK5, TGM1
50myocardial infarction10.1

Graphical network of the top 20 diseases related to Netherton Syndrome:



Diseases related to netherton syndrome

Symptoms for Netherton Syndrome

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Symptoms by clinical synopsis from OMIM:

256500

Clinical features from OMIM:

256500

Symptoms:

 52 (show all 31)
  • ectopic kidney
  • hydronephrosis
  • sparse eyebrow
  • sparse eyelashes
  • acanthosis nigricans
  • dry skin
  • eczema
  • skin rash
  • erythroderma
  • urticaria
  • intellectual disability
  • seizures
  • global developmental delay
  • abnormality of the hair
  • dehydration
  • malabsorption
  • emphysema
  • asthma
  • recurrent respiratory infections
  • sparse scalp hair
  • fine hair
  • recurrent infections
  • increased ige level
  • aminoaciduria
  • hypogammaglobulinemia
  • short stature
  • irregular hyperpigmentation
  • congenital nonbullous ichthyosiform erythroderma
  • ichthyosis
  • trichorrhexis nodosa
  • immunologic hypersensitivity

HPO human phenotypes related to Netherton Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 acanthosis nigricans hallmark (90%) HP:0000956
2 eczema hallmark (90%) HP:0000964
3 urticaria hallmark (90%) HP:0001025
4 malabsorption hallmark (90%) HP:0002024
5 asthma hallmark (90%) HP:0002099
6 fine hair hallmark (90%) HP:0002213
7 irregular hyperpigmentation hallmark (90%) HP:0007400
8 abnormal hair quantity hallmark (90%) HP:0011362
9 cognitive impairment hallmark (90%) HP:0100543
10 seizures typical (50%) HP:0001250
11 emphysema typical (50%) HP:0002097
12 recurrent respiratory infections typical (50%) HP:0002205
13 decreased antibody level in blood typical (50%) HP:0004313
14 dry skin occasional (7.5%) HP:0000958
15 skin rash occasional (7.5%) HP:0000988
16 dehydration occasional (7.5%) HP:0001944
17 aminoaciduria occasional (7.5%) HP:0003355
18 short stature occasional (7.5%) HP:0004322
19 abnormal localization of kidney occasional (7.5%) HP:0100542
20 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
21 sparse and thin eyebrow HP:0000535
22 erythroderma HP:0001019
23 urticaria HP:0001025
24 global developmental delay HP:0001263
25 failure to thrive HP:0001508
26 asthma HP:0002099
27 sparse scalp hair HP:0002209
28 brittle hair HP:0002299
29 recurrent infections HP:0002719
30 abnormality of the musculature HP:0003011
31 increased ige level HP:0003212
32 hypernatremic dehydration HP:0004906
33 congenital nonbullous ichthyosiform erythroderma HP:0007479
34 villous atrophy HP:0011473
35 angioedema HP:0100665

UMLS symptoms related to Netherton Syndrome:


trichorrhexis invaginata, disturbance of thermoregulation of newborn

Drugs & Therapeutics for Netherton Syndrome

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Drugs for Netherton Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PimecrolimusPhase 1, Phase 262137071-32-06447131, 17753757
Synonyms:
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-3-((E)-2-((1R,3R,4S)-4-chloro-3-methoxycyclohexyl)-1-methylvinyl)-8-ethyl-5,6,8,11,12,13,14,15,16,17,18,19,24,26,26a-hexadecahydro-5,19-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,17,20,21(4H,23H)-tetrone
137071-32-0
33-Epi-chloro-33-desoxyascomycin
33-epi-Chloro-33-desoxyascomycin
ASM 981
ASM-981
ASM-998
CHEMBL1200686
CID6447131
CID6509979
CID6916008
D05480
DB00337
 
Elidel
Elidel (TN)
I06-1252
LS-181798
MolPort-003-666-749
NCGC00167506-01
Pimecrolimus
Pimecrolimus (JAN/USAN/INN)
Pimecrolimus [USAN:INN:BAN]
Pimecrolimusum
S5004_Selleck
SDZ ASM 981
SDZ-ASM 981
SDZ-ASM-981
UNII-7KYV510875
2
TacrolimusPhase 1, Phase 21058104987-11-3445643, 439492
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
 
FR900506
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
3
adalimumabPhase 2466331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeCompletedNCT00208026Phase 1, Phase 2
2Clinical Trial Using Humira in Netherton SyndromeActive, not recruitingNCT02113904Phase 2
3A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
4Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
5Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
6Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic PathwaysRecruitingNCT01164241

Search NIH Clinical Center for Netherton Syndrome


Cochrane evidence based reviews: netherton syndrome

Genetic Tests for Netherton Syndrome

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Genetic tests related to Netherton Syndrome:

id Genetic test Affiliating Genes
1 Netherton Syndrome25 23 SPINK5

Anatomical Context for Netherton Syndrome

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MalaCards organs/tissues related to Netherton Syndrome:

34
Skin, Kidney, Eye, Testes, Thymus

Animal Models for Netherton Syndrome or affiliated genes

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Publications for Netherton Syndrome

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Articles related to Netherton Syndrome:

(show top 50)    (show all 137)
idTitleAuthorsYear
1
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. (26889743)
2016
2
Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. (27086664)
2016
3
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. (27543783)
2016
4
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. (26865388)
2016
5
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. (25440527)
2015
6
Penile cancer in a man with netherton syndrome. (25817126)
2015
7
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome. (26390218)
2015
8
Corrigendum to "Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism". (26550512)
2015
9
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. (25526335)
2014
10
Rapid and easy diagnosis of Netherton syndrome with dermoscopy. (25008447)
2014
11
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. (24506793)
2014
12
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. (24042343)
2013
13
Netherton syndrome with multiple non-melanoma skin cancers. (23571873)
2013
14
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. (24329107)
2013
15
The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome. (22588119)
2012
16
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. (22089833)
2012
17
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. (22562784)
2012
18
A new SPINK5 mutation in a patient with Netherton syndrome: a case report. (21692842)
2012
19
Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI. (22837558)
2012
20
Narrowband UVB phototherapy as a novel treatment for Netherton syndrome. (22548400)
2012
21
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. (21573681)
2011
22
Picture of the month. ComA"l-Netherton syndrome without bamboo hair. (21810639)
2011
23
Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. (20703245)
2010
24
The safety and efficacy of pimecrolimus, 1%, cream for the treatment of Netherton syndrome: results from an exploratory study. (20083693)
2010
25
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. (20179351)
2010
26
Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome. (20657595)
2010
27
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. (19414552)
2009
28
Hypothyroidism in Netherton syndrome. (18304180)
2008
29
Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings. (17343588)
2007
30
Early skeletal signs in Netherton syndrome. (17156006)
2006
31
SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing. (16374478)
2006
32
Topical recombinant alpha1-antitrypsin: a potential treatment for Netherton syndrome? (16549727)
2006
33
Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. (15780751)
2005
34
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5. (15942217)
2005
35
UVA1 phototherapy of Netherton syndrome. (15040483)
2004
36
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. (15347338)
2004
37
Early development of multiple epithelial neoplasms in Netherton syndrome. (12920370)
2003
38
A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome. (12923596)
2003
39
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. (11857617)
2002
40
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. (11952552)
2002
41
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? (12100700)
2002
42
Severe hypernatremic dehydration in an infant with Netherton syndrome. (11693786)
2001
43
Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. (10724214)
2000
44
Comel-Netherton syndrome: evolution of manifestation in a 20-year follow-up and phenotypic overlap with peeling skin syndrome type B. (10954215)
2000
45
Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus. (10745035)
2000
46
Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. (10411158)
1999
47
Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome. (10027993)
1999
48
Netherton syndrome presenting as congenital psoriasis. (9436849)
1997
49
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. (8806118)
1996
50
ComA"l-Netherton syndrome. (7999614)
1994

Variations for Netherton Syndrome

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Clinvar genetic disease variations for Netherton Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPINK5NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter)single nucleotide variantPathogenicrs121908387GRCh37Chr 5, 147499626: 147499626
2SPINK5NM_006846.3(SPINK5): c.283-2A> Tsingle nucleotide variantPathogenicrs587777749GRCh38Chr 5, 148086403: 148086403
3SPINK5NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs)duplicationPathogenicrs587777750GRCh38Chr 5, 148120321: 148120321

Expression for genes affiliated with Netherton Syndrome

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Search GEO for disease gene expression data for Netherton Syndrome.

Pathways for genes affiliated with Netherton Syndrome

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Pathways related to Netherton Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5CTSG, ELANE
2
Show member pathways
9.2CTSG, ELANE, KLK7

GO Terms for genes affiliated with Netherton Syndrome

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Cellular components related to Netherton Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermal lamellar bodyGO:009720910.5KLK7, SPINK5
2secretory granuleGO:003014110.0CTSG, ELANE
3extracellular exosomeGO:00700627.4CTSG, DSG1, ELANE, PI3, SPINK5, TGM1

Biological processes related to Netherton Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of immune responseGO:00507789.9CTSG, ELANE
2negative regulation of growth of symbiont in hostGO:00441309.9CTSG, ELANE
3keratinocyte differentiationGO:00302169.9FLG, TGM1
4defense response to fungusGO:00508329.8CTSG, ELANE
5extracellular matrix disassemblyGO:00226179.4CTSG, ELANE, KLK7
6proteolysisGO:00065088.8CTRL, CTSG, ELANE, KLK7

Molecular functions related to Netherton Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type peptidase activityGO:00082369.8CTRL, KLK7
2serine-type endopeptidase inhibitor activityGO:00048679.7PI3, SPINK5
3peptidase activityGO:00082339.0CTRL, CTSG, ELANE, KLK7
4serine-type endopeptidase activityGO:00042528.8CTRL, CTSG, ELANE, KLK7

Sources for Netherton Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet