TEMF
MCID: TRP020
MIFTS: 30

Tropical Endomyocardial Fibrosis (TEMF)

Categories: Rare diseases

Aliases & Classifications for Tropical Endomyocardial Fibrosis

MalaCards integrated aliases for Tropical Endomyocardial Fibrosis:

Name: Tropical Endomyocardial Fibrosis 59
Davies Disease 59
Temf 59

Characteristics:

Orphanet epidemiological data:

59
tropical endomyocardial fibrosis
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 I42.3
Orphanet 59 ORPHA75565

Summaries for Tropical Endomyocardial Fibrosis

MalaCards based summary : Tropical Endomyocardial Fibrosis, also known as davies disease, is related to endomyocardial fibrosis and endocarditis. An important gene associated with Tropical Endomyocardial Fibrosis is IL10 (Interleukin 10), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. Affiliated tissues include heart, breast and skeletal muscle, and related phenotypes are craniofacial and liver/biliary system

Related Diseases for Tropical Endomyocardial Fibrosis

Diseases related to Tropical Endomyocardial Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 208, show less)
# Related Disease Score Top Affiliating Genes
1 endomyocardial fibrosis 30.2 TNF IL4 IL10
2 endocarditis 30.1 TNF IL10
3 schistosomiasis 29.2 TNF IL4 IL10
4 malaria 29.1 TNF IL4 IL10
5 systemic lupus erythematosus 28.5 TNF IL4 IL10
6 fibrosis of extraocular muscles, congenital, 1 10.7
7 hypereosinophilic syndrome 10.4
8 restrictive cardiomyopathy 10.3
9 pneumonia 10.2 TNF IL10
10 pulmonary hypertension 10.2
11 bacterial infectious disease 10.2 TNF IL10
12 punctate inner choroidopathy 10.2 TNF IL10
13 multifocal choroiditis 10.2 TNF IL10
14 choroiditis 10.2 TNF IL10
15 transient hypogammaglobulinemia 10.2 TNF IL10
16 cow milk allergy 10.2 TNF IL10
17 idiopathic achalasia 10.2 TNF IL10
18 trichuriasis 10.2 TNF IL10
19 chronic graft versus host disease 10.2 TNF IL10
20 mucocutaneous leishmaniasis 10.2 TNF IL10
21 clonorchiasis 10.2 TNF IL10
22 trachoma 10.1 TNF IL10
23 meningitis 10.1 TNF IL10
24 transverse myelitis 10.1 TNF IL10
25 intermediate uveitis 10.1 TNF IL10
26 autoimmune disease of eyes, ear, nose and throat 10.1 TNF IL10
27 multidrug-resistant tuberculosis 10.1 TNF IL10
28 post-transplant lymphoproliferative disease 10.1 TNF IL10
29 spotted fever 10.1 TNF IL10
30 scrub typhus 10.1 TNF IL10
31 aseptic meningitis 10.1 TNF IL10
32 hematopoietic stem cell transplantation 10.1 TNF IL10
33 plasmodium vivax malaria 10.1 TNF IL10
34 panuveitis 10.1 TNF IL10
35 lacrimal apparatus disease 10.1 TNF IL10
36 bacterial sepsis 10.1 TNF IL10
37 churg-strauss syndrome 10.1 TNF IL10
38 commensal bacterial infectious disease 10.1 TNF IL10
39 epstein-barr virus-associated gastric carcinoma 10.1 TNF IL10
40 viral encephalitis 10.1 TNF IL10
41 complex regional pain syndrome 10.1 TNF IL10
42 leprosy 3 10.1 TNF IL10
43 idiopathic neutropenia 10.1 TNF IL10
44 rheumatic fever 10.1 TNF IL10
45 lymph node disease 10.1 TNF IL10
46 prostatitis 10.1 TNF IL10
47 lepromatous leprosy 10.1 TNF IL10
48 mixed connective tissue disease 10.1 TNF IL10
49 connective tissue disease 10.1 TNF IL10
50 testicular disease 10.1 TNF IL10
51 echinococcosis 10.1 TNF IL10
52 uveal disease 10.1 TNF IL10
53 peptic ulcer disease 10.1 TNF IL10
54 reactive arthritis 10.1 TNF IL10
55 leptospirosis 10.1 TNF IL10
56 pyelonephritis 10.1 TNF IL10
57 primary progressive multiple sclerosis 10.1 TNF IL10
58 melioidosis 10.1 TNF IL10
59 appendicitis 10.1 TNF IL10
60 hepatitis a 10.1 TNF IL10
61 human immunodeficiency virus infectious disease 10.1 TNF IL10
62 bronchiolitis obliterans 10.1 TNF IL10
63 dengue hemorrhagic fever 10.1 TNF IL10
64 adult respiratory distress syndrome 10.1 TNF IL10
65 filariasis 10.1 TNF IL10
66 bacterial meningitis 10.1 TNF IL10
67 pulmonary edema 10.1 TNF IL10
68 irritable bowel syndrome 10.0 TNF IL10
69 chronic mucocutaneous candidiasis 10.0 TNF IL10
70 atrial standstill 1 10.0
71 sarcoidosis 1 10.0
72 schistosoma mansoni infection, susceptibility/ 10.0
73 heart disease 10.0
74 constrictive pericarditis 10.0
75 mitral valve insufficiency 10.0
76 vascular disease 10.0
77 pericarditis 10.0
78 loeffler syndrome 10.0
79 cytokine deficiency 10.0
80 lymphadenitis 10.0 TNF IL10
81 alcoholic hepatitis 10.0 TNF IL10
82 osteomyelitis 10.0 TNF IL10
83 chronic fatigue syndrome 10.0 TNF IL10
84 keratoconjunctivitis 10.0 TNF IL4
85 peritonitis 10.0 TNF IL10
86 plasmodium falciparum malaria 10.0 TNF IL10
87 graft-versus-host disease 10.0 TNF IL10
88 acquired immunodeficiency syndrome 10.0 TNF IL10
89 chagas disease 10.0 TNF IL10
90 scleritis 10.0 TNF IL4
91 intestinal disease 10.0 TNF IL10
92 opisthorchiasis 10.0 TNF IL4
93 mouth disease 10.0 TNF IL10
94 lichen disease 10.0 TNF IL4
95 conjunctival disease 10.0 TNF IL4
96 kawasaki disease 9.9 TNF IL10
97 rasmussen encephalitis 9.9 TNF IL4
98 pertussis 9.9 TNF IL10
99 demyelinating disease 9.9 TNF IL10
100 rheumatic disease 9.9 TNF IL10
101 neuritis 9.9 TNF IL4
102 tonsillitis 9.9 TNF IL4
103 hyperlucent lung 9.9 IL4 IL10
104 nickel allergic contact dermatitis 9.9 IL4 IL10
105 milk allergy 9.9 IL4 IL10
106 baylisascariasis 9.9 IL4 IL10
107 retinitis pigmentosa 22 9.9 IL4 IL10
108 beta-lactam allergy 9.9 IL4 IL10
109 apple allergy 9.9 IL4 IL10
110 gaucher disease, type ii 9.9 IL4 IL10
111 eosinophilic meningitis 9.9 IL4 IL10
112 gingivitis 9.9 TNF IL4
113 filarial elephantiasis 9.9 IL4 IL10
114 gastrointestinal system disease 9.9 TNF IL10
115 bardet-biedl syndrome 15 9.9 IL4 IL10
116 purpura simplex 9.9
117 purpura 9.9
118 congestive heart failure 9.9
119 lupus erythematosus 9.9
120 alopecia 9.9
121 buruli ulcer 9.9 IL4 IL10
122 genital herpes 9.9 IL4 IL10
123 leukocyte disease 9.9 TNF IL4
124 hemophagocytic lymphohistiocytosis 9.8 TNF IL10
125 transient hypogammaglobulinemia of infancy 9.8 IL4 IL10
126 paranasal sinus disease 9.8 IL4 IL10
127 nasal cavity disease 9.8 IL4 IL10
128 crohn's disease 9.8 TNF IL10
129 lichen planus 9.8 TNF IL4
130 respiratory allergy 9.8 IL4 IL10
131 nervous system disease 9.8 TNF IL10
132 ige responsiveness, atopic 9.8 IL4 IL10
133 mitral valve disease 9.8 IL4 IL10
134 food allergy 9.8 IL4 IL10
135 ulcerative colitis 9.8 TNF IL10
136 immune deficiency disease 9.7 IL4 IL10
137 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.7 IL4 IL10
138 tetanus 9.7 IL4 IL10
139 allergic asthma 9.7 IL4 IL10
140 behcet syndrome 9.7 TNF IL10
141 allergic hypersensitivity disease 9.6 IL4 IL10
142 allergic rhinitis 9.4 IL4 IL10
143 tungiasis 9.4 TNF IL4 IL10
144 autoimmune gastritis 9.4 TNF IL4 IL10
145 orofacial granulomatosis 9.4 TNF IL4 IL10
146 eales disease 9.4 TNF IL4 IL10
147 poliomyelitis 9.4 TNF IL4 IL10
148 mycoplasma pneumoniae pneumonia 9.4 TNF IL4 IL10
149 primary systemic mycosis 9.4 TNF IL4 IL10
150 coccidiosis 9.4 TNF IL4 IL10
151 acute graft versus host disease 9.4 TNF IL4 IL10
152 aphthous stomatitis 9.4 TNF IL4 IL10
153 q fever 9.4 TNF IL4 IL10
154 extrinsic cardiomyopathy 9.4 TNF IL4 IL10
155 keratoconjunctivitis sicca 9.4 TNF IL4 IL10
156 spondyloarthropathy 9.4 TNF IL4 IL10
157 opportunistic mycosis 9.4 TNF IL4 IL10
158 paracoccidioidomycosis 9.4 TNF IL4 IL10
159 autoimmune uveitis 9.4 TNF IL4 IL10
160 uveitis 9.4 TNF IL4 IL10
161 nose disease 9.4 TNF IL4 IL10
162 rheumatic heart disease 9.4 TNF IL4 IL10
163 parasitic helminthiasis infectious disease 9.4 TNF IL4 IL10
164 brucellosis 9.4 TNF IL4 IL10
165 parasitic protozoa infectious disease 9.4 TNF IL4 IL10
166 autoimmune disease 9.4 TNF IL4 IL10
167 autoimmune disease of musculoskeletal system 9.4 TNF IL4 IL10
168 allergic contact dermatitis 9.4 TNF IL4 IL10
169 contact dermatitis 9.4 TNF IL4 IL10
170 autoimmune disease of central nervous system 9.4 TNF IL4 IL10
171 aggressive periodontitis 9.4 TNF IL4 IL10
172 periodontitis 9.4 TNF IL4 IL10
173 upper respiratory tract disease 9.4 TNF IL4 IL10
174 primary bacterial infectious disease 9.4 TNF IL4 IL10
175 gastroenteritis 9.4 TNF IL4 IL10
176 cutaneous leishmaniasis 9.4 TNF IL4 IL10
177 leishmaniasis 9.4 TNF IL4 IL10
178 rubella 9.4 TNF IL4 IL10
179 bronchial disease 9.4 TNF IL4 IL10
180 visceral leishmaniasis 9.4 TNF IL4 IL10
181 bone inflammation disease 9.4 TNF IL4 IL10
182 aspergillosis 9.4 TNF IL4 IL10
183 toxic shock syndrome 9.4 TNF IL4 IL10
184 chlamydia 9.4 TNF IL4 IL10
185 toxoplasmosis 9.4 TNF IL4 IL10
186 bronchiolitis 9.4 TNF IL4 IL10
187 relapsing-remitting multiple sclerosis 9.4 TNF IL4 IL10
188 multiple sclerosis 9.4 TNF IL4 IL10
189 otitis media 9.4 TNF IL4 IL10
190 trypanosomiasis 9.4 TNF IL4 IL10
191 proteasome-associated autoinflammatory syndrome 1 9.4 TNF IL4 IL10
192 pulmonary tuberculosis 9.4 TNF IL4 IL10
193 omenn syndrome 9.4 TNF IL4 IL10
194 myasthenia gravis 9.4 TNF IL4 IL10
195 respiratory system disease 9.4 TNF IL4 IL10
196 interstitial lung disease 9.4 TNF IL4 IL10
197 immune system disease 9.4 TNF IL4 IL10
198 mycobacterium tuberculosis 1 9.4 TNF IL4 IL10
199 viral infectious disease 9.4 TNF IL4 IL10
200 dermatitis, atopic 9.4 TNF IL4 IL10
201 colitis 9.4 TNF IL4 IL10
202 common variable immunodeficiency 9.4 TNF IL4 IL10
203 inflammatory bowel disease 9.4 TNF IL4 IL10
204 skin disease 9.4 TNF IL4 IL10
205 sudden infant death syndrome 9.4 TNF IL10
206 rheumatoid arthritis 9.3 TNF IL4 IL10
207 diabetes mellitus, insulin-dependent 9.3 IL4 IL10
208 asthma 9.3 TNF IL4 IL10

Graphical network of the top 20 diseases related to Tropical Endomyocardial Fibrosis:



Diseases related to Tropical Endomyocardial Fibrosis

Symptoms & Phenotypes for Tropical Endomyocardial Fibrosis

MGI Mouse Phenotypes related to Tropical Endomyocardial Fibrosis:

46 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 IL10 IL4 TNF
2 liver/biliary system MP:0005370 9.13 IL10 IL4 TNF
3 no phenotypic analysis MP:0003012 8.8 IL10 IL4 TNF

Drugs & Therapeutics for Tropical Endomyocardial Fibrosis

Search Clinical Trials , NIH Clinical Center for Tropical Endomyocardial Fibrosis

Genetic Tests for Tropical Endomyocardial Fibrosis

Anatomical Context for Tropical Endomyocardial Fibrosis

MalaCards organs/tissues related to Tropical Endomyocardial Fibrosis:

41
Heart, Breast, Skeletal Muscle

Publications for Tropical Endomyocardial Fibrosis

Articles related to Tropical Endomyocardial Fibrosis:

(showing 45, show less)
# Title Authors PMID Year
1
[Cardiac manifestations of tropical diseases]. 38
30656388 2019
2
[Tropical endomyocardial fibrosis: Perspectives]. 38
29602442 2018
3
Progressive mitral regurgitation in a patient with tropical endomyocardial fibrosis. 38
28582525 2017
4
Cardiac manifestations of parasitic diseases. 38
28285268 2017
5
Tropical diseases of the myocardium: a review. 38
28435310 2017
6
Letter by Kothari Regarding Article, "Tropical Endomyocardial Fibrosis: Natural History, Challenges, and Perspectives". 38
27881499 2016
7
Response by Grimaldi et al to Letter Regarding Article, "Tropical Endomyocardial Fibrosis: Natural History, Challenges, and Perspectives". 38
27881500 2016
8
Tropical Endomyocardial Fibrosis: Natural History, Challenges, and Perspectives. 38
27297343 2016
9
Refinement and growth enhancement of Al2Cu phase during magnetic field assisting directional solidification of hypereutectic Al-Cu alloy. 38
27091383 2016
10
Non-tropical endomyocardial fibrosis: A rare cause of bi-apical filling. 38
26456913 2016
11
Establishment and characterization of fin cell lines from diploid, triploid, and tetraploid oriental weatherfish (Misgurnus anguillicaudatus). 38
25721100 2015
12
Tapioca Cardiomyopathy: Curse of Cassava Endomyocardial Fibrosis. 38
28197237 2015
13
Non-tropical endomyocardial fibrosis associated with sarcoidosis. 38
24168907 2014
14
Plasma cytokine profile in tropical endomyocardial fibrosis: predominance of TNF-a, IL-4 and IL-10. 38
25303100 2014
15
[Tropical endomyocardial fibrosis in Spain]. 38
23092821 2013
16
Electrostatic spin crossover and concomitant electrically operated spin switch action in a ti-based endohedral metallofullerene polymer. 38
23368493 2012
17
Tropical endomyocardial fibrosis in India: a vanishing disease! 38
23287119 2012
18
Schistosomiasis and tropical endomyocardial fibrosis with pulmonary hypertension. 38
21592640 2011
19
Part III. keyword-based, boolean-logic driven data-mining discloses correlations between additional idiopathic conditions, occlusive vascular diseases such as tropical endomyocardial fibrosis with unexplained eosinophilia, and 'histamine dysmetabolism'. 38
18345505 2008
20
Ascites in tropical endomyocardial fibrosis. 38
18069682 2007
21
Prospective, randomized, single-blind, sham treatment-controlled study of the safety and efficacy of an electromagnetic field device for the treatment of chronic low back pain: a pilot study. 38
17714104 2007
22
Effects of different extremely low-frequency electromagnetic fields on osteoblasts. 38
17886004 2007
23
Therapeutic Electromagnetic Field (TEMF) and gamma irradiation on human breast cancer xenograft growth, angiogenesis and metastasis. 38
16045802 2005
24
Low frequency therapeutic EMF differently influences experimental muscle pain in female and male subjects. 38
15832331 2005
25
Computational method for temporal pattern discovery in biomedical genomic databases. 38
16447993 2005
26
Tropical endomyocardial fibrosis (Davies' disease): case report demonstrating the role of magnetic resonance imaging. 38
15856635 2004
27
Therapeutic electromagnetic field effects on angiogenesis and tumor growth. 38
11911264 2001
28
[Tropical endomyocardial fibrosis or Davies disease. A case report]. 38
11181314 2001
29
Alterations in collagen metabolism and increased fibroproliferation in the heart in cerium-treated rats: implications for the pathogenesis of endomyocardial fibrosis. 38
9764572 1998
30
Helminth associated hypereosinophilia and tropical endomyocardial fibrosis (EMF) in Nigeria. 38
9588233 1998
31
Levels of cerium in the tissues of rats fed a magnesium-restricted and cerium-adulterated diet. 38
8720088 1996
32
Cerium stimulates protein biosynthesis in rat heart in vivo. 38
8962795 1995
33
Myocardial and endocardial involvement in tuberculous constrictive pericarditis: difficulty in biopsy distinction from endomyocardial fibrosis as a cause of restrictive heart disease. 38
2394527 1990
34
Endomyocardial fibrosis in dermatomyositis. 38
2365526 1990
35
Pattern of cardiac calcification in tropical endomyocardial fibrosis. 38
2093711 1990
36
Cardiac ultrastructure in tropical endomyocardial fibrosis. 38
3397162 1988
37
Is malaria involved in the pathogenesis of tropical endomyocardial fibrosis? 38
3072819 1988
38
A geochemical basis for endomyocardial fibrosis. 38
3791358 1986
39
An autopsy study of tropical endomyocardial fibrosis in Kerala. 38
4093162 1985
40
Immunological phenomena in tropical endomyocardial fibrosis. 38
6724630 1984
41
Electron microscopic changes in tropical endomyocardial fibrosis. 38
6464108 1984
42
Skeletal muscle involvement in tropical endomyocardial fibrosis. 38
7077351 1982
43
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. 38
869976 1977
44
Endomyocardial fibrosis associated with daunorubicin therapy. 38
1067858 1976
45
[African or tropical endomyocardial fibrosis. Report of the 1st case seen in Mexico]. 38
5126058 1971

Variations for Tropical Endomyocardial Fibrosis

Expression for Tropical Endomyocardial Fibrosis

Search GEO for disease gene expression data for Tropical Endomyocardial Fibrosis.

Pathways for Tropical Endomyocardial Fibrosis

Pathways related to Tropical Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(showing 37, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 TNF IL4 IL10
2
Show member pathways
12.9 TNF IL4 IL10
3
Show member pathways
12.51 TNF IL4 IL10
4
Show member pathways
12.27 TNF IL4 IL10
5
Show member pathways
12.22 TNF IL4 IL10
6 12.17 TNF IL4 IL10
7
Show member pathways
12.17 TNF IL4 IL10
8 11.93 TNF IL10
9
Show member pathways
11.91 TNF IL10
10
Show member pathways
11.88 TNF IL4
11
Show member pathways
11.88 TNF IL4 IL10
12
Show member pathways
11.88 TNF IL4 IL10
13 11.87 TNF IL10
14
Show member pathways
11.76 TNF IL10
15
Show member pathways
11.75 TNF IL4
16 11.72 TNF IL4
17 11.64 TNF IL10
18 11.62 TNF IL4
19 11.61 TNF IL4 IL10
20 11.55 TNF IL4 IL10
21 11.51 TNF IL10
22
Show member pathways
11.5 TNF IL4
23 11.49 TNF IL10
24 11.41 TNF IL4
25 11.4 IL4 IL10
26 11.34 TNF IL4 IL10
27 11.28 TNF IL10
28 11.24 IL4 IL10
29 11.18 TNF IL4 IL10
30 11.13 TNF IL10
31 11.11 TNF IL10
32 11.05 TNF IL4
33 10.94 IL4 IL10
34 10.82 TNF IL4 IL10
35 10.81 TNF IL4 IL10
36 10.66 TNF IL4 IL10
37 10.26 TNF IL4 IL10

GO Terms for Tropical Endomyocardial Fibrosis

Biological processes related to Tropical Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(showing 23, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.78 TNF IL4 IL10
2 positive regulation of transcription, DNA-templated GO:0045893 9.74 TNF IL4 IL10
3 immune response GO:0006955 9.72 TNF IL4 IL10
4 cytokine-mediated signaling pathway GO:0019221 9.63 TNF IL4 IL10
5 cellular response to lipopolysaccharide GO:0071222 9.61 TNF IL10
6 positive regulation of DNA-binding transcription factor activity GO:0051091 9.6 TNF IL10
7 response to organic substance GO:0010033 9.59 TNF IL10
8 B cell differentiation GO:0030183 9.58 IL4 IL10
9 response to glucocorticoid GO:0051384 9.58 TNF IL10
10 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.56 TNF IL10
11 negative regulation of endothelial cell apoptotic process GO:2000352 9.54 IL4 IL10
12 negative regulation of mitotic cell cycle GO:0045930 9.52 TNF IL10
13 negative regulation of interleukin-6 production GO:0032715 9.51 TNF IL10
14 regulation of synapse organization GO:0050807 9.49 TNF IL10
15 positive regulation of cytokine secretion GO:0050715 9.48 TNF IL10
16 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.43 TNF IL10
17 negative regulation of growth of symbiont in host GO:0044130 9.4 TNF IL10
18 endothelial cell apoptotic process GO:0072577 9.37 TNF IL10
19 positive regulation of MHC class II biosynthetic process GO:0045348 9.32 IL4 IL10
20 negative regulation of cytokine secretion involved in immune response GO:0002740 9.26 TNF IL10
21 type 2 immune response GO:0042092 9.16 IL4 IL10
22 regulation of isotype switching GO:0045191 8.96 IL4 IL10
23 receptor biosynthetic process GO:0032800 8.62 TNF IL10

Molecular functions related to Tropical Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 IL4 IL10
2 cytokine activity GO:0005125 8.8 TNF IL4 IL10

Sources for Tropical Endomyocardial Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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