MCID: ELP001
MIFTS: 38

Elephantiasis

Categories: Immune diseases

Aliases & Classifications for Elephantiasis

MalaCards integrated aliases for Elephantiasis:

Name: Elephantiasis 12 77 56 3 15 17 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4976
MeSH 45 D004604
NCIt 51 C34569
UMLS 74 C0013882

Summaries for Elephantiasis

CDC : 3  

MalaCards based summary : Elephantiasis is related to loiasis and erysipelas. An important gene associated with Elephantiasis is NF1 (Neurofibromin 1), and among its related pathways/superpathways is Cell adhesion_Cell-matrix glycoconjugates. The drugs Albendazole and Ivermectin have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and liver.

Wikipedia : 77 Elephantiasis is the enlargement and hardening of limbs or body parts due to tissue swelling. It is... more...

Related Diseases for Elephantiasis

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

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 loiasis 31.5 MFF SRCIN1
2 erysipelas 30.5 ELANE ELN
3 filarial elephantiasis 12.7
4 podoconiosis 12.3
5 lymphedema 10.5
6 filariasis 10.4
7 lymphangitis 10.3
8 hydrocele 10.2
9 cerebral arterial disease 10.2 ELN NF1
10 cerebral aneurysms 10.2 ELANE ELN
11 mid-dermal elastolysis 10.2 ELANE ELN
12 aortic aneurysm, familial abdominal, 1 10.1 ELANE ELN
13 pulmonary emphysema 10.1 ELANE ELN
14 status asthmaticus 10.1 ELANE RNASE3
15 inguinal hernia 10.1 ELN NF1
16 neurofibromatosis, type i 10.1
17 neurofibromatosis, type iv, of riccardi 10.1
18 onchocerciasis 10.1
19 lymphadenitis 10.1
20 hidradenitis suppurativa 10.1
21 hidradenitis 10.1
22 lymphangiosarcoma 10.1
23 adult respiratory distress syndrome 10.1 ELANE ELN
24 bronchopulmonary dysplasia 10.1 ELANE RNASE3
25 leptin deficiency or dysfunction 10.1
26 granuloma inguinale 10.1
27 neurofibroma 10.1
28 bronchial disease 10.1 ELANE RNASE3
29 plasma protein metabolism disease 10.0 ELANE SERPINA3
30 bronchitis 10.0 ELANE RNASE3
31 blood group, vel system 10.0
32 angiosarcoma 10.0
33 venous insufficiency 10.0
34 sarcoma 10.0
35 graves' disease 10.0
36 lymphogranuloma venereum 10.0
37 dermatitis 10.0
38 congenital lymphedema 10.0
39 proteasome-associated autoinflammatory syndrome 1 10.0 ELANE RNASE3
40 senile ectropion 9.9 ELN SRCIN1
41 bronchiectasis 9.9 ELANE SERPINA3
42 lung disease 9.9 ELANE ELN RNASE3
43 respiratory system disease 9.9 ELANE RNASE3
44 sclerosing keratitis 9.9 MFF SRCIN1
45 deep keratitis 9.9 MFF SRCIN1
46 alpha-1-antitrypsin deficiency 9.9 ELANE ELN SERPINA3
47 autosomal dominant disease 9.8 ELANE NF1
48 anterior scleritis 9.8 MFF SRCIN1
49 kaposi sarcoma 9.8
50 lichen sclerosus et atrophicus 9.8

Graphical network of the top 20 diseases related to Elephantiasis:



Diseases related to Elephantiasis

Symptoms & Phenotypes for Elephantiasis

Drugs & Therapeutics for Elephantiasis

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Albendazole Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 54965-21-8 2082
2
Ivermectin Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70288-86-7 6474909
3
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 90-89-1 3052
4
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 564-25-0 54671203
5
Azithromycin Approved Phase 4,Phase 3,Phase 2,Not Applicable 83905-01-5 447043 55185
6
Praziquantel Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 55268-74-1 4891
7 Antimitotic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Anthelmintics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Lipoxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Antimalarials Phase 4,Phase 3,Phase 2
14 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Not Applicable
15 Anticonvulsants Phase 4
16
Petrolatum Approved, Investigational Phase 3 8009-03-8
17
Glycerol Approved, Investigational Phase 3 56-81-5 753
18 Eusol Phase 3
19 Protective Agents Phase 3
20 Sodium hypochlorite Phase 3
21 Disinfectants Phase 3
22 Vitamins Phase 3
23 Milbemycin Phase 3,Phase 2
24 Reslizumab Approved, Investigational Phase 2
25
Rifampicin Approved Phase 2 13292-46-1 5381226 5458213
26
Piperaquine Experimental, Investigational Phase 2 4085-31-8 5079497
27
Dihydroartemisinin Experimental, Investigational Phase 2 71939-50-9 6918483
28 Artemisinine Phase 2
29 Artemisinins Phase 2
30 Anti-Asthmatic Agents Phase 2
31 Respiratory System Agents Phase 2
32 Antibodies, Monoclonal Phase 2
33 Antibodies Phase 2
34 Immunoglobulins Phase 2
35 Antibiotics, Antitubercular Phase 2
36 Antitubercular Agents Phase 2
37 Cytochrome P-450 CYP3A Inducers Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 2
39 Protein Kinase Inhibitors Phase 2
40 Imatinib Mesylate Phase 2 220127-57-1 123596
41
Romidepsin Approved, Investigational Phase 1 128517-07-7 5352062
42
Emodepside Investigational, Vet_approved Phase 1 155030-63-0
43 Pharmaceutical Solutions Phase 1
44
Piperazine Approved, Vet_approved 110-85-0 4837
45
Mebendazole Approved, Vet_approved 31431-39-7 4030
46
Sodium Citrate Approved, Investigational 68-04-2
47
Permethrin Approved, Investigational Not Applicable 52645-53-1 40326
48
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
49
Suramin Investigational 145-63-1 5361
50 DMP 777 157341-41-8

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Impact of Albendazole -Ivermectin on Wuchereria Bancrofti in Mali Completed NCT02784743 Phase 4 ''albendazole'' and ''ivermectin''
2 Post-treatment Effects of Ivermectin (IVM) or Diethylcarbamazine (DEC) in Loiasis Completed NCT01593722 Phase 4 Diethylcarbamazine;Ivermectin
3 Alternate Chemotherapy Regimens for the Clearance of W.Bancrofti Infection Completed NCT02005653 Phase 4 Diethylcarbamazine;Albendazole;Doxycycline
4 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy Completed NCT03052998 Phase 4 Ivermectin
5 Twice Yearly Treatment for the Control of LF Recruiting NCT03036059 Phase 4 400 μg/kg Ivermectin + 400 mg Albendazole
6 Field Studies on the Feasibility of Interrupting the Transmission of Soil-transmitted Helminths (STH) Recruiting NCT03014167 Phase 4 Albendazole
7 Ivermectin Treatment of Persons With Onchocerciasis-associated Epilepsy Active, not recruiting NCT03852303 Phase 4 ivermectin
8 Cluster RCT of Co-administration Azithromycin, Albendazole & Ivermectin Not yet recruiting NCT03570814 Phase 4 Administration of Albendazole on Day 1;Administration of Ivermectin on Day 1;Administration of Azithromycin on Day 1;Administration of Azithromycin on Day 15
9 Safety Study of Combined Azithromycin, Ivermectin and Albendazole for Trachoma and Lymphatic Filariasis Withdrawn NCT01903057 Phase 4 azithromycin;ivermectin;albendazole;placebo
10 Effect of Concomitant Mansonella Perstans Microfilaremia on Immune Responses Following Single Dose Praziquantel in People With Schistosomiasis Withdrawn NCT02734186 Phase 4 Praziquantel
11 An RCT to Evaluate the Effect of a New Skin Care Regimen on SBF in Those With Podoconiosis Completed NCT02839772 Phase 3
12 Repeat Ivermectin Mass Drug Administrations for Control of Malaria: a Pilot Safety and Efficacy Study Completed NCT02509481 Phase 2, Phase 3 Ivermectin;Albendazole
13 IVM Alone vs ALB + IVM Against Onchocerciasis Completed NCT03238131 Phase 3 Ivermectin;Albendazole
14 Safety of Co-administration of IDA and Azithromycin for NTDs ( ComboNTDs ) Completed NCT03676140 Phase 3 Albendazole on Day 1;Ivermectin on Day 1;Diethylcarbamazine on day 1;Azithromycin on Day 1;Azithromycin on Day 8
15 Efficacy of Ivermectin and Albendazole Against Onchocerciasis in the Volta Region, Ghana Completed NCT02078024 Phase 3 IVM plus ALB;IVM
16 Study Comparing Moxidectin And Ivermectin In Subjects With Onchocerca Volvulus Infection Completed NCT00790998 Phase 3 Moxidectin;Ivermectin
17 A 24 Month Study to Compare Efficacy of Doxycycline vs Placebo for Improving Filarial Lymphedema in India Recruiting NCT02929121 Phase 3 Doxycycline;Placebo
18 A 24 Month Study, to Compare the Efficacy of Doxycycline vs. Placebo for Improving Filarial Lymphedema in Mali Recruiting NCT02927496 Phase 3 Doxycycline;Placebo
19 A 24 Month Study to Compare Efficacy of Doxycycline vs Placebo for Improving Filarial Lymphedema in Sri Lanka Active, not recruiting NCT02929134 Phase 3 Doxycycline;Placebo
20 Safety and Efficacy of Annual or Biannual Doses of Moxidectin or Ivermectin for Onchocerciasis Not yet recruiting NCT03876262 Phase 3 Moxidectin;Ivermectin
21 Effect of Albendazole Dose on Treatment of Lymphatic Filariasis Completed NCT00511004 Phase 2 Albendazole;Diethylcarbamazine
22 Doxycycline to Treat Mansonella Perstans Infection in Patients With and Without Lymphatic Filariasis Completed NCT00340691 Phase 2 Doxycycline
23 Effect of Albendazole Dose on Clearance of Filarial Worms Completed NCT00339417 Phase 2 Albendazole;Ivermectin
24 Eval 3-Drug Therapy Diethylcarbamize, Albendazole and Ivermectin That Could Accelerate LF Elimination Outside of Africa Completed NCT01975441 Phase 2 Diethylcarbamazine;Albendazole;Ivermectin
25 Effect of Albendazole Dose on Clearance of Filarial Worms Completed NCT00375583 Phase 2 DEC/Albendazole
26 PK PD Study of IDA and Azithromycin for NTDs ( ComboNTDs ) Completed NCT03664063 Phase 2 Azithromycin;Albendazole;Ivermectin;Diethylcarbamazine
27 Efficacy and Safety of High-dose Ivermectin for Reducing Malaria Transmission: A Dose Finding Study Completed NCT02511353 Phase 2 ivermectin;placebo;dihydroartemisinin-piperaquine
28 Reslizumab to Prevent Post-treatment Eosinophilia in Loiasis Completed NCT01111305 Phase 2 Reslizumab;Diethylcarbamazine
29 Study Evaluating Orally Administered Moxidectin In Subjects With Onchocerca Volvulus Infection Completed NCT00300768 Phase 2 2 mg moxidectin;ivermectin 150 mcg/kg;4 mg moxidectin;8 mg moxidectin
30 Clinical Trial of Rifampin and Azithromycin for the Treatment of River Blindness Completed NCT00127504 Phase 2 Rifampin;Azithromycin
31 Concomitant Infections of Mansonella Perstans in Tuberculosis and Buruli Ulcer Disease Patients From Ghana Completed NCT02281643 Phase 2 Doxycycline
32 Efficacy and Microfilaricidal Kinetics of Imatinib for the Treatment of Loa Loa Not yet recruiting NCT02644525 Phase 2 Imatinib Mesylate;Placebo
33 Pediatric Pharmacokinetics And Safety Study Of Moxidectin Withdrawn NCT01035619 Phase 2 moxidectin
34 Pharmacokinetics & Pharmacodynamics of Diethylcarbamazine (DEC)+ Albendazole (ALB) + Ivermectin (IVE) Completed NCT02845713 Phase 1 Ivermectin, Diethylcarbamazine Albendazole (IDA)
35 Safety, Tolerability and PK of Multiple-ascending Doses of Emodepside Completed NCT03383614 Phase 1 LSF emodepside (BAY 44-4400) oral solution (1mg/mL)
36 Relative Bioavailability Study of Emodepside IR-tablets and Solution Completed NCT03383523 Phase 1 Emodepside (BAY 44-4400)
37 First in Man Clinical Trial of Emodepside (BAY 44-4400) Completed NCT02661178 Phase 1 emodepside (BAY 44-4400);placebo
38 Determination of a Dose of Moxidectin in Individuals < 12 Years of Age Not yet recruiting NCT03962062 Phase 1 Moxidectin
39 Disability and Quality of Life in Patients With Lymphatic Filariasis in Rural Southern India Completed NCT01629771
40 Exhaled NO Testing in Filariasis Completed NCT01628497
41 Optimization of Mass Drug Administration With Existing Drug Regimens for Lymphatic Filariasis and Onchocerciasis Completed NCT01905423 Albendazole and diethylcarbamazine
42 Research for Elim of Filariasis Completed NCT00145223
43 Death to Onchocerciasis and Lymphatic Filariasis (DOLF) Triple Drug Therapy for Lymphatic Filariasis Completed NCT02899936 Not Applicable 3 drug dose - IDA;2 drug dose - DA
44 Research for Elimination of Lymphatic Filariasis (ICIDR) Completed NCT00406627
45 Optimization of Mass Drug Administration With Existing Drug Regimens for Lymphatic Filariasis and Onchocerciasis for Ivory Coast (DOLF-Ivory Coast) Completed NCT02032043 Annual versus Semiannual Albendazole plus Ivermectin MDA
46 Mass Drug Administration for Lymphatic Filariasis and Onchocerciasis for Liberia Completed NCT01905436 Annual versus Semiannual Albendazole plus Ivermectin Mass Drug Administration
47 Lymphatic Filariasis (LF) in Ivory Coast Completed NCT02974049 Not Applicable Albendazole;Ivermectin;Diethylcarbamazine
48 Interaction Between HIV and Lymphatic Filariasis Completed NCT00295698 Not Applicable Diethylcarbamazine
49 Optimization of MDA With Existing Drug Regimens for LF: Monitoring Efficacy of Ongoing Treatment Programs in PNG Completed NCT03268252
50 Fiji Integrated Therapy (FIT) - Triple Therapy for Lymphatic Filariasis, Scabies and Soil Transmitted Helminths in Fiji Completed NCT03177993 Not Applicable 3 drug dose - IDA;3 drug dose - IDA with second dose of ivermectin;2 drug dose - DA

Search NIH Clinical Center for Elephantiasis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Elephantiasis

Anatomical Context for Elephantiasis

MalaCards organs/tissues related to Elephantiasis:

42
Skin, Testes, Liver, Lymph Node, Bone, Thyroid, Heart

Publications for Elephantiasis

Articles related to Elephantiasis:

(show top 50) (show all 555)
# Title Authors Year
1
Elephantiasis and the Origins of Chronic Bowel Damage in Crohn's Disease. ( 31100451 )
2019
2
Elephantiasis and Directed Occupational Rehabilitation. ( 30886758 )
2019
3
Scrotal elephantiasis associated with follicular occlusion triad: A case report and literature review. ( 31008968 )
2019
4
Genital elephantiasis possibly caused by chronic inguinal eczema with streptococcal infection. ( 30614069 )
2019
5
Predominant T-helper 17 skewing in elephantiasis nostras verrucosa. ( 30869170 )
2019
6
Unsuspected Amelanotic Melanoma in an Elephantiasis Foot. ( 29854646 )
2018
7
Angiosarcoma complicating lower leg elephantiasis in a male patient: An unusual clinical complication, case report and literature review. ( 30397474 )
2018
8
Warty Fingers and Toes in a Child With Congenital Lymphedema: Elephantiasis Nostras Verrucosa. ( 29710245 )
2018
9
Elephantiasis nostras verrucosa secondary to scleroderma. ( 30893402 )
2018
10
Podoconiosis: Nonfilarial endemic elephantiasis. ( 29371058 )
2018
11
Bilateral vulval filarial elephantiasis. ( 29472427 )
2018
12
The Successful Treatment of Elephantiasis Nostras Verrucosa With Ablative Carbon Dioxide Laser. ( 29519146 )
2018
13
Bilateral Lower Limb and Abdominal Elephantiasis Due to Erysipelas. ( 29578137 )
2018
14
Treatment of elephantiasis of the leg by fasciotomy and lymphangiectomy with skin preservation in a resource-limited setting: a case report and review. ( 29616640 )
2018
15
Peno-Scrotal Elephantiasis Nostras Verrucosa: Rare Disorder in a Young Nigerian. ( 30027999 )
2018
16
Acitretin may improve symptoms and exudation in patients affected by elephantiasis nostras verrucosa: Report of a case. ( 30549253 )
2018
17
Beta Human Papillomavirus Infection Is Prevalent in Elephantiasis and Exhibits a Productive Phenotype: A Case-Control Study. ( 28253203 )
2017
18
Giant elephantiasis and inguino-scrotal hernia. ( 28617809 )
2017
19
Wuchereria bancrofti infection at four primary schools and surrounding communities with no previous blood surveys in northern Uganda: the prevalence after mass drug administrations and a report on suspected non-filarial endemic elephantiasis. ( 28814926 )
2017
20
Elephantiasis nostras verrucosa secondary to recurrent erysipelas. ( 28838924 )
2017
21
Elephantiasis nostras verrucosa: a rare complication of lower limb lymphoedema. ( 28847994 )
2017
22
A Case of Exuberant Elephantiasis Nostras Verrucosa. ( 28865510 )
2017
23
Erratum to: Wuchereria bancrofti infection at four primary schools and surrounding communities with no previous blood surveys in northern Uganda: the prevalence after mass drug administrations and a report on suspected non-filarial endemic elephantiasis. ( 28943776 )
2017
24
Elephantiasis nostras verrucosa. ( 29067989 )
2017
25
Left Ulnar Artery Pseudoaneurysm and Left Hand Swelling Simulated by Elephantiasis in a Patient with Neurofibromatosis Type 1. ( 30065469 )
2017
26
Verrucous lesions arising in lymphedema and diabetic neuropathy: Elephantiasis nostras verrucosa or verrucous skin lesions on the feet of patients with diabetic neuropathy? ( 26281791 )
2016
27
Resolution of septic shock in a patient with myelomeningocele (spina bifida) complicated with deforming Elephantiasis Nostras Verrucosa. ( 25623264 )
2016
28
The diagnostic challenge of mapping elephantiasis in the Tigray region of northern Ethiopia. ( 26518364 )
2016
29
Elephantiasis nostras verrucosa secondary to congestive cardiac failure. ( 26944379 )
2016
30
Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report. ( 27284375 )
2016
31
Abdominal Elephantiasis Nostras Verrucosa: An Underrecognized Disorder. ( 27784526 )
2016
32
Elephantiasis Nostras Verrucosa. Excision with full-thickness skin grafting of the penis, scrotum, and perineal area. ( 27900063 )
2016
33
Evolution of Skin during Rehabilitation for Elephantiasis Using Intensive Treatment. ( 27999691 )
2016
34
Excision of Elephantiasis Nostras Verrucosa Lesions in a Patient With Hereditary Lymphedema: Case Report and Review of the Literature. ( 25441846 )
2015
35
Elephantiasis nostras verrucosa occurring in voluntary shut-in ("hikikomori"). ( 25500212 )
2015
36
Successful Surgical Treatment for Elephantiasis Nostras Verrucosa Using a New Designed Column Flap. ( 25573979 )
2015
37
Massive Soft Tissue Neurofibroma (Elephantiasis Neuromatosa): Case Report and Review of Literature. ( 25694465 )
2015
38
A case of progressive elephantiasis nostras verrucosa. ( 25832960 )
2015
39
Scroto-perineal hidradenitis suppurativa complicated by giant scrotal elephantiasis. ( 25837812 )
2015
40
Scrotal elephantiasis secondary to recalcitrant hidradenitis suppurativa. ( 26087097 )
2015
41
Epidemiology of elephantiasis with special emphasis on podoconiosis in Ethiopia: A literature review. ( 26119541 )
2015
42
Vulval elephantiasis. ( 26500880 )
2015
43
Clinical Reasoning: A 50-year-old man with "elephantiasis" and headache. ( 26598438 )
2015
44
Elephantiasis legs. ( 23114202 )
2014
45
Double autologous lymph node transplantation (ALNT) at the level of the knee and inguinal region for advanced lymphoedema of the lower limb (elephantiasis). ( 24269710 )
2014
46
Elephantiasis nostras verrucosa. ( 24682133 )
2014
47
Debulking surgery for elephantiasis nostras with large ectatic podoplanin-negative lymphatic vessels in patients with lipo-lymphedema. ( 24741382 )
2014
48
Elephantiasis nostras verrucosa. ( 24856044 )
2014
49
Maggot Therapy for Elephantiasis Nostras Verrucosa Reveals New Applications and New Complications: A Case Report. ( 24861094 )
2014
50
NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies. ( 24922668 )
2014

Variations for Elephantiasis

Expression for Elephantiasis

Search GEO for disease gene expression data for Elephantiasis.

Pathways for Elephantiasis

Pathways related to Elephantiasis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.21 ELANE ELN

GO Terms for Elephantiasis

Cellular components related to Elephantiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 ELANE ELN SERPINA3
2 azurophil granule lumen GO:0035578 8.8 ELANE RNASE3 SERPINA3

Biological processes related to Elephantiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.33 ELANE RNASE3 SERPINA3
2 antimicrobial humoral response GO:0019730 8.96 ELANE RNASE3
3 skeletal muscle tissue development GO:0007519 8.62 ELN NF1

Sources for Elephantiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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