MCID: NTH001
MIFTS: 55

Netherton Syndrome

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

Aliases & Classifications for Netherton Syndrome

MalaCards integrated aliases for Netherton Syndrome:

Name: Netherton Syndrome 54 12 50 24 25 56 71 29 13 52 42 14
Netherton Disease 50 24 25 71
Neth 50 24 25 71
Ns 24 25 56 71
Ichthyosis Linearis Circumflexa 24 25 69
Comel-Netherton Syndrome 25 71
Bamboo Hair Syndrome 25 56
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 71
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 25
Comèl-Netherton Syndrome 56
Ilc 25
Nts 71

Characteristics:

Orphanet epidemiological data:

56
netherton syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
netherton syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Netherton Syndrome

OMIM : 54
Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002). (256500)

MalaCards based summary : Netherton Syndrome, also known as netherton disease, is related to ichthyosis vulgaris and colorectal cancer, and has symptoms including short stature, sparse scalp hair and recurrent infections. An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5), and among its related pathways/superpathways are Developmental Biology and Defensins. The drugs Pimecrolimus and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and eye.

NIH Rare Diseases : 50 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 : 71 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.

Genetics Home Reference : 25 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.

Wikipedia : 72 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Related Diseases for Netherton Syndrome

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

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 ichthyosis vulgaris 29.7 FLG TGM1
2 colorectal cancer 11.3
3 pancreatic cancer 11.0
4 short bowel syndrome 10.9
5 duodenogastric reflux 10.9
6 gastroesophageal reflux 10.9
7 dumping syndrome 10.9
8 vipoma 10.9
9 neuroendocrine tumor 10.9
10 schizophrenia 10.9
11 zollinger-ellison syndrome 10.9
12 pancreatoblastoma 10.9
13 5-nucleotidase syndrome 10.8
14 functional diarrhea 10.8
15 carcinoid syndrome 10.8
16 nicotine dependence, protection against 10.8
17 infant botulism 10.8
18 oropouche fever 10.8
19 space motion sickness 10.8
20 pancreatic islet cell tumors 10.8
21 hypotrichosis 1 10.8
22 hypertension, essential 10.8
23 amphetamine abuse 10.8
24 postgastrectomy syndrome 10.8
25 parkinson disease, late-onset 10.8
26 autistic disorder 10.8
27 rhizomelic chondrodysplasia punctata, type 2 10.8
28 agnosia 10.6
29 pain agnosia 10.6
30 autonomic nervous system neoplasm 10.6
31 lung sarcoma 10.4 FLG PI3
32 ichthyosis, congenital, autosomal recessive 3 10.3 SPINK5 TGM1
33 haim-munk syndrome 10.2 CTSG SPINK5
34 amyotrophic lateral sclerosis 19 10.2 FLG TGM1
35 bullous pemphigoid 10.2 ELANE PI3
36 pyridoxal 5'-phosphate-dependent epilepsy 10.2 ELANE PI3
37 placenta praevia 10.2 ELANE PI3
38 hemangioma of orbit 10.2 ELANE PI3
39 uremic neuropathy 10.1 ELANE FLG
40 tetanus 10.1 ELANE PI3
41 epithelioid type angiomyolipoma 10.1 FLG KLK7 SPINK5
42 chondrodysplasia punctata, x-linked recessive 10.1 FLG TGM1
43 shigellosis 10.1 ELANE PI3
44 richter's syndrome 10.0 FLG SPINK5 TGM1
45 catecholaminergic polymorphic ventricular tachycardia 5 10.0 FLG SPINK5 TGM1
46 steroid inherited metabolic disorder 10.0 FLG SPINK5 TGM1
47 cardiomyopathy 10.0
48 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.0 DSG1 FLG
49 ichthyosis 10.0
50 myocardial infarction 9.9

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



Diseases related to Netherton Syndrome

Symptoms & Phenotypes for Netherton Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
developmental delay

Head And Neck- Eyes:
sparse eyebrows

Abdomen- Gastroin testinal:
enteropathy with villous atrophy

Muscle Soft Tissue:
angioedema

Hematology:
hypereosinophilia

Immunology:
recurrent infections
asthma
angioedema
elevated immunoglobulin e (ige)
hay fever
more
Skin Nails & Hair- Hair:
sparse eyebrows
sparse, brittle scalp hair
trichorrhexis invaginata ("bamboo hair")

Respiratory- Airways:
asthma

Skin Nails & Hair- Skin:
generalized erythroderma
ichthyosis linearis circumflexa
congenital lamellar ichthyosis
urticaria

Metabolic Features:
hypernatremic dehydration


Clinical features from OMIM:

256500

Human phenotypes related to Netherton Syndrome:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 sparse scalp hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002209
3 recurrent infections 56 32 Occasional (29-5%) HP:0002719
4 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
5 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
6 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
7 aminoaciduria 56 32 occasional (7.5%) Occasional (29-5%) HP:0003355
8 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
9 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
10 dry skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000958
11 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
12 sparse eyelashes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000653
13 fine hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002213
14 dehydration 56 32 occasional (7.5%) Occasional (29-5%) HP:0001944
15 asthma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002099
16 acanthosis nigricans 56 32 hallmark (90%) Very frequent (99-80%) HP:0000956
17 eczema 56 32 hallmark (90%) Very frequent (99-80%) HP:0000964
18 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
19 ectopic kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000086
20 trichorrhexis nodosa 56 32 hallmark (90%) Very frequent (99-80%) HP:0009886
21 urticaria 56 32 hallmark (90%) Very frequent (99-80%) HP:0001025
22 emphysema 56 32 frequent (33%) Frequent (79-30%) HP:0002097
23 erythroderma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001019
24 irregular hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007400
25 decreased antibody level in blood 56 32 frequent (33%) Frequent (79-30%) HP:0004313
26 increased ige level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003212
27 congenital nonbullous ichthyosiform erythroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0007479
28 failure to thrive 32 HP:0001508
29 brittle hair 32 HP:0002299
30 ichthyosis 56 Very frequent (99-80%)
31 villous atrophy 32 HP:0011473
32 angioedema 32 HP:0100665
33 hypernatremic dehydration 32 HP:0004906
34 abnormality of the musculature 32 HP:0003011
35 abnormality of the hair 56 Very frequent (99-80%)
36 immunologic hypersensitivity 56 Very frequent (99-80%)
37 sparse eyebrow 56 Occasional (29-5%)
38 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535

UMLS symptoms related to Netherton Syndrome:


trichorrhexis invaginata

Drugs & Therapeutics for Netherton Syndrome

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
2
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
3
Adalimumab Approved Phase 2 331731-18-1 16219006
4 Analgesics Phase 1, Phase 2
5 Analgesics, Non-Narcotic Phase 1, Phase 2
6 Anti-Inflammatory Agents Phase 1, Phase 2
7 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
8 Antirheumatic Agents Phase 1, Phase 2
9 Calcineurin Inhibitors Phase 1, Phase 2
10 Dermatologic Agents Phase 1, Phase 2
11 Immunosuppressive Agents Phase 1, Phase 2
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Antibodies Phase 2
14 Antibodies, Monoclonal Phase 2
15 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
2 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
3 Clinical Trial Using Humira in Netherton Syndrome Active, not recruiting NCT02113904 Phase 2 Adalimumab
4 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1 BPR277 ointment (controlled application);Placebo (Vehicle);BPR277 ointment;Placebo (Vehicle);BPR277;Placebo (Vehicle)
5 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
6 Natural History and Biological Study of Netherton Syndrome Recruiting NCT02081313
7 Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways Recruiting NCT01164241

Search NIH Clinical Center for Netherton Syndrome

Cochrane evidence based reviews: netherton syndrome

Genetic Tests for Netherton Syndrome

Genetic tests related to Netherton Syndrome:

id Genetic test Affiliating Genes
1 Netherton Syndrome 29 24 SPINK5

Anatomical Context for Netherton Syndrome

MalaCards organs/tissues related to Netherton Syndrome:

39
Skin, Kidney, Eye, Testes, Colon, Thymus

Publications for Netherton Syndrome

Articles related to Netherton Syndrome:

(show top 50) (show all 147)
id Title Authors Year
1
KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. ( 28095415 )
2017
2
A case of Netherton syndrome with mutation in SPINK5 and FLG. ( 28943498 )
2017
3
Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome. ( 28717637 )
2017
4
Netherton syndrome in association with vitamin D deficiency. ( 28686763 )
2017
5
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
6
Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. ( 26825155 )
2016
7
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome. ( 28289593 )
2016
8
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. ( 26889743 )
2016
9
Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. ( 27086664 )
2016
10
A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels. ( 26592187 )
2016
11
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. ( 26997095 )
2016
12
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome. ( 28025013 )
2016
13
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. ( 26865388 )
2016
14
Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy. ( 27119479 )
2016
15
Netherton Syndrome: A Genotype-Phenotype Review. ( 27905021 )
2016
16
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. ( 27190931 )
2016
17
Airborne transmission from a neonate with Netherton syndrome during an outbreak of MRSA. ( 26900026 )
2016
18
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. ( 27543783 )
2016
19
Mechanistic insight from murine models of Netherton syndrome. ( 27710911 )
2016
20
Rare case of Netherton syndrome with generalized lentigines. ( 27988933 )
2016
21
Exocrine pancreatic insufficiency in a child with Netherton syndrome. ( 26986028 )
2016
22
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. ( 25917539 )
2015
23
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. ( 26229701 )
2015
24
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. ( 25710899 )
2015
25
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. ( 26365906 )
2015
26
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. ( 25672309 )
2015
27
New mutation leading to the full variety of typical features of the Netherton syndrome. ( 26031502 )
2015
28
Penile cancer in a man with netherton syndrome. ( 25817126 )
2015
29
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. ( 25440527 )
2015
30
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome. ( 26390218 )
2015
31
Corrigendum to "Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism". ( 26550512 )
2015
32
Molecular analysis of a series of Israeli families with ComA"l-Netherton syndrome. ( 24577329 )
2014
33
Rapid and easy diagnosis of Netherton syndrome with dermoscopy. ( 25008447 )
2014
34
SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7. ( 24848304 )
2014
35
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. ( 24534191 )
2014
36
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy. ( 25153381 )
2014
37
Netherton syndrome associated with growth hormone deficiency. ( 24015757 )
2014
38
IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome. ( 25159469 )
2014
39
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. ( 24506793 )
2014
40
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. ( 25526335 )
2014
41
Netherton syndrome, a case report and review of literature. ( 24800031 )
2013
42
Netherton syndrome with pili torti. ( 24778540 )
2013
43
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. ( 23344365 )
2013
44
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. ( 23331056 )
2013
45
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. ( 24138501 )
2013
46
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. ( 23802543 )
2013
47
Netherton syndrome and its multifaceted defective protein LEKTI. ( 23407075 )
2013
48
Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients. ( 24292773 )
2013
49
Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case. ( 23829563 )
2013
50
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. ( 24329107 )
2013

Variations for Netherton Syndrome

ClinVar genetic disease variations for Netherton Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SPINK5 NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic rs121908387 GRCh37 Chromosome 5, 147499626: 147499626
2 SPINK5 NM_006846.3(SPINK5): c.283-2A> T single nucleotide variant Pathogenic rs587777749 GRCh38 Chromosome 5, 148086403: 148086403
3 SPINK5 NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs) duplication Pathogenic rs587777750 GRCh38 Chromosome 5, 148120321: 148120321
4 SPINK5 NM_006846.3(SPINK5): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs199757347 GRCh38 Chromosome 5, 148091214: 148091214

Expression for Netherton Syndrome

Search GEO for disease gene expression data for Netherton Syndrome.

Pathways for Netherton Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 DSG1 FLG PI3 SPINK5 TGM1
2
Show member pathways
11.5 CTSG ELANE PI3
3
Show member pathways
11.48 DSG1 FLG PI3 SPINK5 TGM1

GO Terms for Netherton Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 CTSG DSG1 ELANE PI3 SPINK5 TGM1
2 epidermal lamellar body GO:0097209 8.96 KLK7 SPINK5
3 cornified envelope GO:0001533 8.92 DSG1 FLG PI3 TGM1

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

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.76 CTRL CTSG ELANE KLK7
2 keratinocyte differentiation GO:0030216 9.48 FLG TGM1
3 defense response to fungus GO:0050832 9.43 CTSG ELANE
4 extracellular matrix disassembly GO:0022617 9.43 CTSG ELANE KLK7
5 negative regulation of growth of symbiont in host GO:0044130 9.4 CTSG ELANE
6 positive regulation of immune response GO:0050778 9.37 CTSG ELANE
7 antimicrobial humoral response GO:0019730 9.33 CTSG ELANE PI3
8 skin epidermis development GO:0098773 9.32 FLG PI3
9 peptide cross-linking GO:0018149 9.13 FLG PI3 TGM1
10 cornification GO:0070268 9.02 DSG1 FLG PI3 SPINK5 TGM1

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

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.56 CTRL CTSG ELANE KLK7
2 serine-type endopeptidase activity GO:0004252 9.26 CTRL CTSG ELANE KLK7
3 structural constituent of epidermis GO:0030280 9.16 FLG PI3
4 serine-type peptidase activity GO:0008236 8.92 CTRL CTSG ELANE KLK7

Sources for Netherton Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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