MCID: PCH015
MIFTS: 50

Pachyonychia Congenita 1

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Pachyonychia Congenita 1

MalaCards integrated aliases for Pachyonychia Congenita 1:

Name: Pachyonychia Congenita 1 54 71
Pachyonychia Congenita 12 23 50 24 25 56 42 14 69
Pachyonychia Congenita Syndrome 50 25 29
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 12 13
Jadassohn-Lewandowsky Syndrome 12 71
Pachyonychia Congenita, Type 1 29 52
Congenital Pachyonychia 50 25
Pachyonychia Congenita, Jadassohn Lewandowsky Type 69
Pachyonychia Congenita Jadassohn-Lewandowsky Type 71
Jackson-Lawler Type Pachyonychia Congenita 12
Jadassohn-Lewandowski Syndrome 25
Pachyonychia Congenita, Type 2 69
Pachyonychia Congenita Type 1 12
Jackson-Lawler Syndrome 25
Pc1 71
Pc 56

Characteristics:

Orphanet epidemiological data:

56
pachyonychia congenita
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
pachyonychia congenita 1:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

23
Penetrance Within families studied to date, inheritance of a pathogenic variant is uniformly associated with some manifestation of disease, suggesting that penetrance is 100%...

Classifications:



Summaries for Pachyonychia Congenita 1

NIH Rare Diseases : 50 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 people can 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 people 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. all forms are inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 12/10/2015

MalaCards based summary : Pachyonychia Congenita 1, also known as pachyonychia congenita, is related to steatocystoma multiplex and pachyonychia congenita 2, and has symptoms including palmoplantar keratoderma, cognitive impairment and hepatomegaly. An important gene associated with Pachyonychia Congenita 1 is KRT16 (Keratin 16), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Gemcitabine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and prostate.

Genetics Home Reference : 25 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.

OMIM : 54
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). (167200)

UniProtKB/Swiss-Prot : 71 Pachyonychia congenita 1: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.

Wikipedia : 72 Pachyonychia congenita is an autosomal dominant skin... more...

GeneReviews: NBK1280

Related Diseases for Pachyonychia Congenita 1

Diseases in the Pachyonychia Congenita 1 family:

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

Diseases related to Pachyonychia Congenita 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 steatocystoma multiplex 32.6 KRT16 KRT17 KRT6B
2 pachyonychia congenita 2 12.4
3 pachyonychia congenita 4 12.3
4 pachyonychia congenita 3 12.3
5 krt16-related pachyonychia congenita 11.9
6 krt17-related pachyonychia congenita 11.9
7 krt6a-related pachyonychia congenita 11.9
8 krt6b-related pachyonychia congenita 11.9
9 obesity with impaired prohormone processing 10.8
10 benign hypertensive renal disease 10.6 KRT16 KRT6A
11 dicrocoeliasis 10.6 KRT16 KRT17
12 palmoplantar keratoderma, epidermolytic 10.4 KRT16 KRT9
13 cholesteatoma of attic 10.4 KRT6A KRT6B
14 marburg hemorrhagic fever 10.4 KRT10 KRT9
15 squamous cell carcinoma 10.3 KRT10 KRT9
16 pigmented basal cell carcinoma 10.3 KRT10 KRT17
17 acantholytic acanthoma 10.3 KRT10 KRT17
18 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.3 KRT10 KRT16
19 basal cell carcinoma 4 10.3 KRT16 KRT17 KRT9
20 keratosis palmoplantaris striata iii 10.3 KRT16 KRT17 KRT9
21 bamforth-lazarus syndrome 10.3 KRT10 KRT9
22 laryngitis 10.2
23 sclerosteosis 1 10.2 KRT10 KRT16 KRT17
24 hypochromic microcytic anemia 10.1 KRT10 KRT16 KRT17
25 clove syndrome, somatic 10.1 KRT10 KRT17
26 carotid artery disease 10.1 KRT10 KRT16 KRT9
27 alopecia 10.1
28 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.1 KRT10 KRT17
29 bacteriuria 10.0 KRT16 KRT17 KRT6A KRT6B
30 papilledema 10.0 KRT16 KRT17 KRT6A KRT6B
31 hidradenitis suppurativa 10.0
32 hidradenitis 10.0
33 small intestine leiomyoma 10.0 FLG KRT17
34 neuronitis 10.0
35 lung sarcoma 9.9 FLG KRT16
36 thyroiditis 9.9
37 dermatitis 9.8
38 b-cell lymphomas 9.8
39 epidermolysis bullosa 9.8
40 skin disease 9.8
41 atopic dermatitis 9.8
42 lymphoma 9.8
43 mucositis 9.8
44 epidermolysis bullosa simplex 9.8
45 sarcoma 9.8
46 fissured tongue 9.8
47 tuberous sclerosis 9.8
48 patent ductus arteriosus 9.8
49 median rhomboid glossitis 9.8
50 amyloidosis 9.8

Graphical network of the top 20 diseases related to Pachyonychia Congenita 1:



Diseases related to Pachyonychia Congenita 1

Symptoms & Phenotypes for Pachyonychia Congenita 1

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
follicular hyperkeratosis
palmoplantar hyperkeratosis

Head And Neck- Mouth:
oral leukokeratosis

Skin Nails & Hair- Nails:
onychogryposis


Clinical features from OMIM:

167200

Human phenotypes related to Pachyonychia Congenita 1:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
3 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
4 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
5 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
6 ichthyosis 56 32 frequent (33%) Frequent (79-30%) HP:0008064
7 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
8 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
9 anonychia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001798
10 nail dystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008404
11 laryngomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001601
12 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
13 oral leukoplakia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002745
14 corneal dystrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001131
15 abnormal blistering of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0008066
16 abnormality of the fingernails 56 32 occasional (7.5%) Occasional (29-5%) HP:0001231
17 abnormality of nail color 56 32 hallmark (90%) Very frequent (99-80%) HP:0100643
18 thick nail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001805
19 follicular hyperkeratosis 32 HP:0007502
20 palmoplantar hyperkeratosis 32 HP:0000972
21 abnormality of the teeth 56 Frequent (79-30%)
22 abnormality of the nail 56 Very frequent (99-80%)
23 abnormality of the hair 56 Very frequent (99-80%)

UMLS symptoms related to Pachyonychia Congenita 1:


hoarseness

Drugs & Therapeutics for Pachyonychia Congenita 1

Drugs for Pachyonychia Congenita 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 3,Phase 2 95058-81-4 60750
2 Antimetabolites Phase 3,Phase 2
3 Anti-Infective Agents Phase 3,Phase 2,Phase 1
4 Antimetabolites, Antineoplastic Phase 3,Phase 2
5 Antiviral Agents Phase 3,Phase 2
6 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
7
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
10
Heparin Approved, Investigational Phase 2 9005-49-6 772 46507594
11
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
12
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
13 Antibodies Phase 2
14 Immunoglobulins Phase 2
15 Anti-Bacterial Agents Phase 2,Phase 1
16 Antibiotics, Antitubercular Phase 2,Phase 1
17 Antifungal Agents Phase 2,Phase 1
18 Antihypertensive Agents Phase 2
19 Albumin-Bound Paclitaxel Phase 2
20 Anticoagulants Phase 2
21 Antimitotic Agents Phase 2
22 Antineoplastic Agents, Phytogenic Phase 2
23 calcium heparin Phase 2
24 Calcium, Dietary Phase 2
25 Fibrinolytic Agents Phase 2
26
Nicotine Approved Phase 1 54-11-5 942 89594
27 Autonomic Agents Phase 1
28 Central Nervous System Stimulants Phase 1
29 Cholinergic Agents Phase 1
30 Neurotransmitter Agents Phase 1
31 Nicotinic Agonists Phase 1
32 Peripheral Nervous System Agents Phase 1
33 Pharmaceutical Solutions Phase 1
34
Simvastatin Approved 79902-63-9 54454
35
Aspirin Approved, Vet_approved 50-78-2 2244
36
Pravastatin Approved 81093-37-0 54687
37 Anticholesteremic Agents
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors
39 Hypolipidemic Agents
40 Lipid Regulating Agents
41 glucagon
42 Glucagon-Like Peptide 1
43 insulin
44 Insulin, Globin Zinc
45 Analgesics
46 Analgesics, Non-Narcotic
47 Androgens
48 Angiotensin Receptor Antagonists
49 Angiotensin-Converting Enzyme Inhibitors
50 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Multi-center Clinical Evaluation of PC 1-Day vs 1-Day Acuvue Moist Completed NCT02024698 Phase 4
2 A Study of Nimotuzumab Combinated With Gemcitabine in K-RAS Wild-type Locally Advanced and Metastatic Pancreatic Cancer Recruiting NCT02395016 Phase 3 nimotuzumab;Gemcitabine
3 An Open, Single-center Study to Determine the Antibody Repsonse to Gastrimmune and Its Safety and Tolerability in Patients With Advanced Pancreatic Carcinoma Completed NCT02098291 Phase 2 G17DT
4 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
5 Efficacy & Safety of ODSH (2-0, 3-0 Desulfated Heparin) in Patients With Metastatic Pancreatic Cancer Treated With Gemcitabine & Abraxane Completed NCT01461915 Phase 2 Abraxane ( Nab-paclitaxel);Abraxane ( Nab-paclitaxel);Gemcitabine;Gemcitabine;ODSH ( 2-O, 3-O Desulfated Heparin);ODSH ( 2-O, 3-O Desulfated Heparin);Abraxane ( nab-paclitaxel);Gemcitabine
6 uPAR PET/CT in Radium-223-dichloride Treatment of Patients With Metastatic Castration-resistant Prostate Cancer Recruiting NCT02964988 Phase 2 Injection of PET tracer 68Ga-NOTA-AE105
7 uPAR-PET/MRI in Patients With Prostate Cancer for Evaluation of Tumor Aggressiveness Not yet recruiting NCT03307460 Phase 2 68Ga-NOTA-AE105
8 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Unknown status NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
9 Pilot Pharmacokinetic Study of New Nicotine Lozenge Formulations Completed NCT01574898 Phase 1 V0474 - A mg;V0474 - B mg;V0474 - C mg;V0018 - B mg;Niquitin® Fresh Mint 4 mg
10 Polarized Reflectance Spectroscopy for Oral Lesions Completed NCT01604759 Phase 1
11 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
12 Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
13 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Simvastatine
14 Proclear 1-D Multifocal Nondispensing Study Completed NCT01526902
15 The Role of Small Intestinal Endocrine Cells in Type 2 Diabetic Hyperglucagonemia Completed NCT00639613
16 Different Training (Aerobic, Resistance or Mixed) Physical Programs Affect to Physiological Responses (TRAINING2014) Completed NCT02441192
17 A RAndomizeD Intervention for Cardiovascular and Lifestyle Risk Factors in Prostate Cancer Patients Recruiting NCT03127631 Antiplatelet agent, such as Aspirin, or other low-dose antiplatelet agent;Statin, such as Simvastatin, Atorvastatin, Rosuvastatin, Pravastatin);ACE inhibitor
18 ProstaCare Study for BPH Recruiting NCT02962674

Search NIH Clinical Center for Pachyonychia Congenita 1

Cochrane evidence based reviews: pachyonychia congenita

Genetic Tests for Pachyonychia Congenita 1

Genetic tests related to Pachyonychia Congenita 1:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita, Type 1 29
2 Pachyonychia Congenita Syndrome 29
3 Pachyonychia Congenita 24 KRT6B

Anatomical Context for Pachyonychia Congenita 1

MalaCards organs/tissues related to Pachyonychia Congenita 1:

39
Skin, Tongue, Prostate, Kidney, Small Intestine

Publications for Pachyonychia Congenita 1

Variations for Pachyonychia Congenita 1

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 1:

71 (show all 14)
id Symbol AA change Variation ID SNP ID
1 KRT16 p.Leu132Pro VAR_003846 rs60944949
2 KRT16 p.Asn125Ser VAR_009183 rs60723330
3 KRT16 p.Arg127Cys VAR_009184 rs59856285
4 KRT16 p.Gln122Pro VAR_012855 rs59349773
5 KRT16 p.Arg127Pro VAR_012856 rs57424749
6 KRT16 p.Leu124Arg VAR_013837 rs58293603
7 KRT16 p.Met121Thr VAR_017065 rs28928894
8 KRT16 p.Leu128Gln VAR_017066 rs28928895
9 KRT16 p.Lys354Asn VAR_017067 rs59328451
10 KRT16 p.Leu124His VAR_072436 rs58293603
11 KRT16 p.Leu124Pro VAR_072437 rs58293603
12 KRT16 p.Asn125Asp VAR_072438 rs58608173
13 KRT16 p.Asn125Gly VAR_072439 rs587777717
14 KRT16 p.Leu421Pro VAR_072440

ClinVar genetic disease variations for Pachyonychia Congenita 1:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT16 NM_005557.3(KRT16): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs60944949 GRCh37 Chromosome 17, 39768546: 39768546
2 KRT16 NM_005557.3(KRT16): c.374A> G (p.Asn125Ser) single nucleotide variant Pathogenic rs60723330 GRCh37 Chromosome 17, 39768567: 39768567
3 KRT16 NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del) deletion Pathogenic rs58181827 GRCh37 Chromosome 17, 39768550: 39768552
4 KRT16 NM_005557.3(KRT16): c.380G> C (p.Arg127Pro) single nucleotide variant Pathogenic rs57424749 GRCh37 Chromosome 17, 39768561: 39768561
5 KRT16 NM_005557.3(KRT16): c.365A> C (p.Gln122Pro) single nucleotide variant Pathogenic rs59349773 GRCh37 Chromosome 17, 39768576: 39768576
6 KRT16 NM_005557.3(KRT16): c.371T> G (p.Leu124Arg) single nucleotide variant Pathogenic rs58293603 GRCh37 Chromosome 17, 39768570: 39768570
7 KRT16 NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn) single nucleotide variant Pathogenic/Likely pathogenic rs59328451 GRCh37 Chromosome 17, 39766801: 39766801
8 KRT16 NM_005557.3(KRT16): c.362T> C (p.Met121Thr) single nucleotide variant Pathogenic rs28928894 GRCh37 Chromosome 17, 39768579: 39768579
9 KRT16 NM_005557.3(KRT16): c.383T> A (p.Leu128Gln) single nucleotide variant Pathogenic rs28928895 GRCh37 Chromosome 17, 39768558: 39768558
10 KRT16 NM_005557.3(KRT16): c.373A> G (p.Asn125Asp) single nucleotide variant Pathogenic rs58608173 GRCh37 Chromosome 17, 39768568: 39768568
11 KRT16 NM_005557.3(KRT16): c.373_374delAAinsGG (p.Asn125Gly) indel Pathogenic rs587777717 GRCh38 Chromosome 17, 41612315: 41612316
12 KRT16 NM_005557.3(KRT16): c.365A> G (p.Gln122Arg) single nucleotide variant Likely pathogenic rs59349773 GRCh37 Chromosome 17, 39768576: 39768576

Expression for Pachyonychia Congenita 1

Search GEO for disease gene expression data for Pachyonychia Congenita 1.

Pathways for Pachyonychia Congenita 1

Pathways related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
2 12.04 KRT10 KRT17 KRT6A KRT6B
3
Show member pathways
11.78 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
4
Show member pathways
11.49 KRT16 KRT17 KRT2 KRT6A

GO Terms for Pachyonychia Congenita 1

Cellular components related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.96 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
2 extracellular exosome GO:0070062 9.81 KRT10 KRT16 KRT17 KRT2 KRT6A KRT6B
3 cornified envelope GO:0001533 9.5 FLG KRT10 KRT2
4 keratin filament GO:0045095 9.35 KRT2 KRT6A KRT6B KRT74 KRT75
5 intermediate filament GO:0005882 9.32 FLG KRT10 KRT16 KRT17 KRT2 KRT6A

Biological processes related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.69 KRT16 KRT6A KRT6B
2 epidermis development GO:0008544 9.67 KRT16 KRT17 KRT2 KRT9
3 cornification GO:0070268 9.65 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
4 keratinocyte differentiation GO:0030216 9.63 FLG KRT10 KRT16
5 peptide cross-linking GO:0018149 9.58 FLG KRT10 KRT2
6 intermediate filament cytoskeleton organization GO:0045104 9.5 KRT16 KRT6A KRT74
7 establishment of skin barrier GO:0061436 9.49 FLG KRT16
8 keratinocyte migration GO:0051546 9.43 KRT16 KRT2
9 intermediate filament organization GO:0045109 9.43 KRT17 KRT2 KRT9
10 skin epidermis development GO:0098773 9.33 FLG KRT10 KRT2
11 keratinization GO:0031424 9.28 KRT10 KRT16 KRT17 KRT2 KRT6A KRT6B
12 morphogenesis of an epithelium GO:0002009 9.18 KRT16

Molecular functions related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.43 KRT16 KRT17 KRT2 KRT6A KRT6B KRT9
2 structural constituent of epidermis GO:0030280 9.33 FLG KRT10 KRT2
3 structural molecule activity GO:0005198 9.17 FLG KRT16 KRT17 KRT2 KRT6A KRT74

Sources for Pachyonychia Congenita 1

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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