MCID: TRC023
MIFTS: 53

Trichinosis

Categories: Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Trichinosis

MalaCards integrated aliases for Trichinosis:

Name: Trichinosis 12 73 20 58 3 15 17
Trichinellosis 20 58 3 44 70 32
Human Trichinellosis 20 70
Trichinella Spiralis Infection 12
Infection with Trichinella 20
Trichiniasis 20

Characteristics:

Orphanet epidemiological data:

58
trichinellosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infectious diseases


Summaries for Trichinosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 863 Definition Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.

MalaCards based summary : Trichinosis, also known as trichinellosis, is related to cytokine deficiency and mastocytosis. An important gene associated with Trichinosis is IL4 (Interleukin 4), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include eye, bone marrow and cortex, and related phenotypes are emg abnormality and periorbital edema

Disease Ontology : 12 A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.

CDC : 3 Trichinellosis, also called trichinosis, is caused by eating raw or undercooked meat of animals infected with the larvae of a species of worm called Trichinella. Infection occurs commonly in certain wild carnivorous (meat-eating) animals such as bear or cougar, or omnivorous (meat and plant-eating) animals such as domestic pigs or wild boar.

Wikipedia : 73 Trichinosis, also known as trichinellosis, is a parasitic disease caused by roundworms of the... more...

Related Diseases for Trichinosis

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

(show top 50) (show all 468)
# Related Disease Score Top Affiliating Genes
1 cytokine deficiency 31.2 IL9 IL5 IL13
2 mastocytosis 30.8 IL9 IL4 IL3 IL13
3 echinococcosis 30.6 IL5 IL17A IL10
4 cysticercosis 30.6 IL5 IL4 IL10 CD4
5 myocarditis 30.6 PIK3C2A IL4 IL17A IL10
6 exanthem 30.5 PIK3C2A IL10 CD4
7 irritable bowel syndrome 30.4 POMC IL4 IL10
8 toxoplasmosis 30.3 IL5 IL4 IL10
9 toxocariasis 30.3 IL5 IL4 IL13 IL10
10 hypereosinophilic syndrome 30.2 IL9 IL5 IL4 IL3 IL13 IL10
11 visceral leishmaniasis 30.2 IL4 IL13 IL10
12 ulcerative colitis 30.2 IL4 IL17A IL13 IL10
13 ascaris lumbricoides infection 30.1 TSLP IL5 IL13
14 trypanosomiasis 30.1 IL9 IL4 IL10
15 pyomyositis 30.1 PIK3C2A CD4
16 bacterial infectious disease 30.1 IL3 IL17A IL10 CD4
17 diarrhea 30.1 POMC IL5 IL13 IL10
18 mononeuritis multiplex 30.0 IL5 CD4
19 penicillin allergy 30.0 IL4 IL13 IL10
20 aspergillosis 30.0 IL5 IL4 IL10
21 trichuriasis 30.0 IL9 IL13 IL10
22 taeniasis 30.0 IL5 IL4 IL13 IL10 CD4
23 leptospirosis 30.0 PIK3C2A IL4 IL10
24 conjunctivitis 30.0 IL5 IL4 IL13 IL10 CCL11
25 poliomyelitis 30.0 IL4 IL10 CD4
26 colitis 29.9 IL4 IL17A IL13 IL10 CD4
27 paragonimiasis 29.9 IL5 IL13
28 endocarditis 29.8 PIK3C2A IL17A IL10
29 giardiasis 29.8 IL17A IL10 CD4
30 disease by infectious agent 29.8 IL4 IL17A IL10 CD4
31 salmonellosis 29.7 IL17A IL10 CD4
32 severe combined immunodeficiency 29.7 IL9 IL4 IL3 IL17A IL13 IL10
33 amebiasis 29.6 IL4 IL17A IL10 CD4
34 chagas disease 29.6 IL4 IL17A IL10 CD4
35 endomyocardial fibrosis 29.6 RNASE2 IL5 IL4 IL10
36 leishmaniasis 29.5 IL5 IL4 IL17A IL13 IL10
37 meningitis 29.5 IL5 IL4 IL17A IL13 IL10
38 leprosy 3 29.5 IL5 IL4 IL17A IL13 IL10 CD4
39 intestinal schistosomiasis 29.5 IL5 IL4 IL17A IL13 IL10 CD4
40 strongyloidiasis 29.4 IL5 IL4 IL13 CD4 CCL11
41 myelitis 29.4 IL9 IL17A IL10 CCL11
42 body mass index quantitative trait locus 11 29.4 POMC IL4 IL17A IL10 CD4 CCL11
43 respiratory failure 29.4 PIK3C2A IL5 IL13 IL10 CD4 CCL11
44 peripheral nervous system disease 29.3 POMC IL4 IL17A IL10 CD4
45 schistosomiasis 29.3 IL9 IL5 IL4 IL17A IL13 IL10
46 inflammatory bowel disease 28.9 IL9 IL5 IL4 IL3 IL17A IL13
47 allergic asthma 28.9 TSLP IL9 IL5 IL4 IL3 IL17A
48 parasitic helminthiasis infectious disease 28.8 TSLP IL9 IL5 IL4 IL17A IL13
49 allergic disease 28.6 TSLP RNASE2 IL9 IL5 IL4 IL3
50 acute asthma 10.4 IL5 IL4

Graphical network of the top 20 diseases related to Trichinosis:



Diseases related to Trichinosis

Symptoms & Phenotypes for Trichinosis

Human phenotypes related to Trichinosis:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
2 periorbital edema 58 31 frequent (33%) Frequent (79-30%) HP:0100539
3 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
4 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
5 conjunctival hyperemia 58 31 frequent (33%) Frequent (79-30%) HP:0030953
6 increased circulating ige level 31 frequent (33%) HP:0003212
7 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
8 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
9 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
10 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
11 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
12 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
13 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
14 trismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000211
15 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
16 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
17 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
18 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
19 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
20 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
21 ocular pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0200026
22 abnormality of the cerebrospinal fluid 58 31 occasional (7.5%) Occasional (29-5%) HP:0002921
23 limitation of neck motion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005986
24 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
25 facial palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0010628
26 meningitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001287
27 babinski sign 58 31 very rare (1%) Very rare (<4-1%) HP:0003487
28 encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001298
29 retinal hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0000573
30 aphasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002381
31 hemiplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002301
32 abnormality of the optic nerve 58 31 very rare (1%) Very rare (<4-1%) HP:0000587
33 anisocoria 58 31 very rare (1%) Very rare (<4-1%) HP:0009916
34 central retinal artery occlusion 58 31 very rare (1%) Very rare (<4-1%) HP:0025342
35 abnormality of eye movement 58 Occasional (29-5%)
36 muscle weakness 58 Frequent (79-30%)
37 behavioral abnormality 58 Occasional (29-5%)
38 reduced consciousness/confusion 58 Occasional (29-5%)
39 abnormality of the cardiovascular system 58 Occasional (29-5%)
40 edema 58 Frequent (79-30%)
41 increased circulating total ige level 58 Frequent (79-30%)
42 facial edema 58 Frequent (79-30%)
43 abnormal uvea morphology 58 Very rare (<4-1%)

MGI Mouse Phenotypes related to Trichinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 CCL11 CD4 IL10 IL13 IL17A IL4
2 digestive/alimentary MP:0005381 9.97 CD4 IL10 IL13 IL17A IL4 IL5
3 immune system MP:0005387 9.97 CCL11 CD4 IL10 IL13 IL17A IL4
4 integument MP:0010771 9.56 CD4 IL10 IL13 IL17A IL4 POMC
5 respiratory system MP:0005388 9.17 CCL11 IL10 IL13 IL17A IL4 IL5

Drugs & Therapeutics for Trichinosis

Search Clinical Trials , NIH Clinical Center for Trichinosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Thiabendazole

Cochrane evidence based reviews: trichinellosis

Genetic Tests for Trichinosis

Anatomical Context for Trichinosis

MalaCards organs/tissues related to Trichinosis:

40
Eye, Bone Marrow, Cortex, Bone, Heart, Lung, Skin

Publications for Trichinosis

Articles related to Trichinosis:

(show top 50) (show all 2775)
# Title Authors PMID Year
1
Therapeutic efficacy of mebendazole and artemisinin in different phases of trichinellosis: a comparative experimental study. 61
33517933 2021
2
Time-resolved transcriptional profiling of Trichinella-infected murine myocytes helps to elucidate host-pathogen interactions in the muscle stage. 61
33648561 2021
3
Early Detection of Trichinella spiralis DNA in Rat Feces Based on Tracing Phosphate Ions Generated During Loop-Mediated Isothermal Amplification. 61
33662114 2021
4
Trichinella britovi infection in wild boar in Portugal. 61
33455082 2021
5
Inactivation of Trichinella muscle larvae at different time-temperature heating profiles simulating home-cooking. 61
33713660 2021
6
A Bead-Based Assay for the Detection of Antibodies against Trichinella Spp. Infection in Humans. 61
33782208 2021
7
Prevalence of meat-transmitted Taenia and Trichinella parasites in the Far East countries. 61
33768333 2021
8
Prevalence of Trichinella T9 in Japanese black bears (Ursus thibetanus japonicus) in Iwate prefecture, Japan. 61
33137504 2021
9
Second outbreak of Trichinella pseudospiralis in Europe: clinical patterns, epidemiological investigation and identification of the etiological agent based on the western blot patterns of the patients' serum. 61
33164335 2021
10
Primary characterization of the immune responses in Tibetan pigs infected with Chinese Tibet isolate of Trichinella spiralis. 61
33639942 2021
11
Clinical and laboratory profile of trichinellosis from a non-endemic country. 61
33652039 2021
12
Regulation of human THP-1 macrophage polarization by Trichinella spiralis. 61
33415398 2021
13
Effects of Trichinella spiralis and its excretory/secretory products on autophagy of host muscle cells in vivo and in vitro. 61
33600403 2021
14
Purinergic P2X7 Receptor Mediates the Elimination of Trichinella spiralis by Activating NF-кb/NLRP3/IL-1β Pathway in Macrophages. 61
33558327 2021
15
Oxidative stress mediated apoptotic potential of mefloquine on experimental trichinellosis. 61
33221280 2021
16
Bioinformatic Prediction and Production of Four Recombinant Proteins from Different Developmental Stages of Trichinella spiralis and Testing of Their Diagnostic Sensitivity in Mice. 61
33786054 2021
17
'Curved tunnel' sign on MRI: a typical radiological feature in hepatic trichinellosis. 61
33484285 2021
18
Comparative multi-omics analyses reveal differential expression of key genes relevant for parasitism between non-encapsulated and encapsulated Trichinella. 61
33514854 2021
19
Exploiting the potential of 2D DIGE and 2DE immunoblotting for comparative analysis of crude extract of Trichinella britovi and Trichinella spiralis muscle larvae proteomes. 61
33278763 2021
20
Trichinella spp. in wild boar (Sus scrofa) populations in Croatia during an eight-year study (2010-2017). 61
33392373 2020
21
Effect of aqueous extract from Scutellaria baicalensis Georgi roots on CD4+ and CD8+ T cell responses during experimental infection with Trichinella spiralis in mice. 61
33480495 2020
22
The impact of l-arginine supplementation on the enteral phase of experimental Trichinella spiralis infection in treated and untreated mice. 61
33184541 2020
23
The immune protection induced by a serine protease from the Trichinella spiralis adult administered as DNA and protein vaccine. 61
32645301 2020
24
[Epidemiology, diagnosis, treatment and control measures of trichinellosis in China: an overview]. 61
33185053 2020
25
Comparison between Trichinella patagoniensis and Trichinella spiralis infection in BALB/c mice. 61
33002768 2020
26
Myocarditis and Raw Meat Consumption: Strange Bedfellows! 61
33096200 2020
27
Trichinellosis in Slovakia - epidemiological situation in humans and animals (2009-2018). 61
32955215 2020
28
A review on Trichinella infection in South America. 61
32949838 2020
29
Gamma radiation effect on Trichinella pseudospiralis and Trichinella spiralis infected wild boar meat. 61
33035776 2020
30
Probiotic Bacteria can Modulate Murine Macrophage's Superoxide Production in Trichinella Spiralis Infection. 61
32855610 2020
31
Trichinella britovi outbreak: Epidemiological, clinical, and biological features. 61
31732242 2020
32
Human Outbreak of Trichinellosis Caused by Trichinella papuae Nematodes, Central Kampong Thom Province, Cambodia. 61
32687022 2020
33
Effects of TLR agonists on immune responses in Trichinella spiralis infected mice. 61
32535733 2020
34
Paraneoplastic Dermatomyositis in a Patient with Metastatic Gastric Carcinoma. 61
32876041 2020
35
Trichinella spiralis-associated myocarditis mimicking acute myocardial infarction. 61
32627690 2020
36
The Disease Ecology, Epidemiology, Clinical Manifestations, and Management of Trichinellosis Linked to Consumption of Wild Animal Meat. 61
32169338 2020
37
Changes in the Expression of TLR2 During the Intestinal Phase of Trichinellosis. 61
32587914 2020
38
Celebrating the 60th Anniversary of the International Commission on Trichinellosis: An early example of Franco-German collaboration to study the Trichinellosis outbreak of Emersleben (1883). 61
32616356 2020
39
Lipid profile of Trichinella papuae muscle-stage larvae. 61
32576934 2020
40
Study of Trichinella patagoniensis in wild boars. 61
32540092 2020
41
Species identification of Trichinella originated from various host and different geographical location by MALDI-TOF. 61
32272128 2020
42
Towards a better understanding of the benefits and risks of country food consumption using the case of walruses in Nunavik (Northern Quebec, Canada). 61
32143094 2020
43
A common source for a trichinellosis outbreak reported in France and Serbia in 2017. 61
32583764 2020
44
Early diagnosis of experimental Trichinella spiralis infection by nano-based enzyme-linked immunosorbent assay (nano-based ELISA). 61
32199081 2020
45
The first analysis of Trichinella spiralis and Trichinella britovi adult worm excretory-secretory proteins by two-dimensional electrophoresis coupled with LC-MS/MS. 61
32564938 2020
46
Effect of Genotype and Sex of the Host on the Bioavailability of Novel Albendazole Microcrystals Based on Chitosan and Cellulose Derivatives. 61
32435903 2020
47
Clinical and epidemiological descriptions from trichinellosis outbreaks in Bulgaria. 61
32179068 2020
48
Resveratrol reduces oxidative damage and inflammation in mice infected with Trichinella spiralis. 61
32238206 2020
49
Protection against Trichinella spiralis in BALB/c mice via oral administration of recombinant Lactobacillus plantarum expressing murine interleukin-4. 61
32278937 2020
50
Comparative expression profiles of host circulating miRNAs in response to Trichinella spiralis infection. 61
32156309 2020

Variations for Trichinosis

Expression for Trichinosis

Search GEO for disease gene expression data for Trichinosis.

Pathways for Trichinosis

Pathways related to Trichinosis according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 RNASE2 POMC IL9R IL9 IL5 IL4
2
Show member pathways
13.8 IL9R IL9 IL5 IL4 IL3 IL17A
3
Show member pathways
13.64 TSLP IL9R IL9 IL5 IL4 IL3
4
Show member pathways
13.51 IL9R IL9 IL5 IL4 IL3 IL17A
5
Show member pathways
13.38 IL9R IL9 IL5 IL4 IL3 IL17A
6
Show member pathways
13.31 POMC IL9R IL9 IL5 IL4 IL3
7
Show member pathways
13.26 IL9R IL9 IL5 IL4 IL3 IL17A
8
Show member pathways
12.8 IL9 IL5 IL4 IL3 IL17A IL13
9
Show member pathways
12.61 IL9 IL5 IL4 IL17A IL10 CD4
10
Show member pathways
12.6 IL5 IL4 IL17A IL13 IL10 CD4
11
Show member pathways
12.49 IL5 IL4 IL3 IL13
12 12.47 IL4 IL3 IL17A IL10
13
Show member pathways
12.37 TSLP IL9R IL9 IL5 IL4 IL3
14
Show member pathways
12.35 IL5 IL4 IL17A IL13 CCL11
15
Show member pathways
12.28 IL9 IL5 IL4 IL3 IL17A IL13
16 12.03 IL5 IL4 IL3 IL10 CD4
17 12.01 POMC IL4 IL17A IL13 IL10 CCL11
18
Show member pathways
11.94 PIK3C2A IL5 IL13
19 11.94 IL9R IL5 IL4 IL3 CD4
20 11.84 POMC IL5 IL4 IL13
21
Show member pathways
11.79 IL4 IL17A CD4
22
Show member pathways
11.71 IL17A IL10 CD4
23 11.71 IL5 IL4 IL13 CCL11
24
Show member pathways
11.7 IL5 IL4 IL3
25 11.7 IL5 IL4 IL10 CCL11
26 11.68 IL9R IL9 IL4
27 11.63 IL5 IL4 IL10
28 11.5 IL4 IL13 IL10
29 11.25 IL9 IL5 IL4 IL13 IL10
30 11.24 TSLP IL9 IL5 IL4 IL17A IL13
31 11.16 IL9 IL5 IL4 IL13 IL10 CD4
32 11.13 TSLP IL9 IL5 IL4 IL17A IL13
33 11.1 IL5 IL4 IL3 IL13 IL10 CD4
34 11.02 IL9 IL5 IL4 IL3 IL17A IL13
35 10.8 IL9R IL9 IL5 IL4 IL13

GO Terms for Trichinosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 TSLP RNASE2 POMC IL9R IL9 IL5
2 extracellular space GO:0005615 9.4 TSLP RNASE2 POMC IL9R IL9 IL5

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.13 TSLP POMC IL9R IL5 IL4 IL10
2 positive regulation of cell proliferation GO:0008284 9.97 TSLP IL9 IL5 IL4 IL3
3 inflammatory response GO:0006954 9.89 IL9 IL5 IL17A IL13 CCL11
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 IL5 IL3 CD4
5 negative regulation of tumor necrosis factor production GO:0032720 9.71 POMC IL4 IL10
6 positive regulation of B cell proliferation GO:0030890 9.65 IL5 IL4 IL13
7 positive regulation of interleukin-10 production GO:0032733 9.63 TSLP IL4 IL13
8 macrophage activation GO:0042116 9.61 IL4 IL13
9 immune response GO:0006955 9.61 IL9 IL5 IL4 IL3 IL17A IL13
10 positive regulation of MHC class II biosynthetic process GO:0045348 9.59 IL4 IL10
11 positive regulation of interleukin-13 production GO:0032736 9.58 TSLP IL4
12 positive regulation of interleukin-5 production GO:0032754 9.58 TSLP IL9
13 positive regulation of mast cell degranulation GO:0043306 9.56 IL4 IL13
14 defense response to Gram-negative bacterium GO:0050829 9.56 TSLP RNASE2 IL17A CD4
15 interleukin-9-mediated signaling pathway GO:0038113 9.55 IL9R IL9
16 negative regulation of endothelial cell apoptotic process GO:2000352 9.54 IL4 IL13 IL10
17 type 2 immune response GO:0042092 9.51 IL4 IL10
18 positive regulation of immunoglobulin production GO:0002639 9.5 IL5 IL13 IL10
19 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 TSLP IL4 IL3 IL13
20 negative regulation of complement-dependent cytotoxicity GO:1903660 9.43 IL4 IL13
21 regulation of isotype switching GO:0045191 9.4 IL4 IL10
22 cytokine-mediated signaling pathway GO:0019221 9.28 POMC IL5 IL4 IL3 IL17A IL13

Molecular functions related to Trichinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.35 IL9 IL5 IL4 IL3 IL10
2 cytokine receptor binding GO:0005126 9.33 IL9 IL4 IL13
3 cytokine activity GO:0005125 9.28 TSLP IL9 IL5 IL4 IL3 IL17A

Sources for Trichinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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