MCID: PRN049
MIFTS: 47

Paraneoplastic Pemphigus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 59 73

Characteristics:

Orphanet epidemiological data:

59
paraneoplastic pemphigus
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA63455
UMLS via Orphanet 74 C1112570
ICD10 via Orphanet 34 L10.8
UMLS 73 C1112570

Summaries for Paraneoplastic Pemphigus

MalaCards based summary : Paraneoplastic Pemphigus is related to pemphigus and follicular dendritic cell sarcoma. An important gene associated with Paraneoplastic Pemphigus is EVPL (Envoplakin), and among its related pathways/superpathways are Developmental Biology and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include skin, b cells and lung, and related phenotypes are sarcoma and thymoma

Wikipedia : 76 Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is... more...

Related Diseases for Paraneoplastic Pemphigus

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

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 pemphigus 31.7 A2ML1 COL17A1 DSC1 DSC3 DSG1 DSG2
2 follicular dendritic cell sarcoma 31.0 DSP EVPL PPL
3 lichen planus 30.7 COL17A1 DSG3 DST
4 lichen planus pemphigoides 30.4 COL17A1 DST
5 pemphigus vegetans 30.4 DSC3 DSG1 PPL
6 pemphigus foliaceus 30.2 DSG1 DSG2 DSG3 DST EVPL HLA-DRB1
7 pemphigus vulgaris 30.1 DSC3 DSG1 DSG2 DSG3 DSP DST
8 linear iga disease 30.0 COL17A1 DST
9 human herpesvirus 8 29.7 HLA-A HLA-B HLA-C
10 autoimmune disease 29.6 COL17A1 DSG1 HLA-B HLA-DQB1 HLA-DRB1
11 bullous pemphigoid 29.4 COL17A1 DSG1 DSG3 DSP DST EVPL
12 graft-versus-host disease 29.2 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
13 lymphoma 10.6
14 bronchiolitis obliterans 10.5
15 bronchiolitis 10.5
16 sarcoma 10.5
17 pemphigus vulgaris, familial 10.4
18 leukemia 10.4
19 castleman disease 10.4
20 lymphocytic leukemia 10.4
21 leukemia, chronic lymphocytic 2 10.4
22 leukemia, chronic lymphocytic 10.4
23 leukemia, b-cell, chronic 10.4
24 thymoma 10.3
25 follicular lymphoma 10.3
26 pemphigus erythematosus 10.3 DSG3 DSP
27 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSG1 DSP
28 b-cell lymphomas 10.3
29 bullous impetigo 10.3 DSG1 DSG3
30 myasthenia gravis 10.2
31 inflammatory myofibroblastic tumor 10.2
32 myasthenia gravis congenital 10.2
33 palmoplantar keratoderma and woolly hair 10.2 DSC2 DSP
34 transverse colon cancer 10.2 DSC2 DSC3
35 herpetiform pemphigus 10.2 DSG1 DSG3 DST
36 cardiomyopathy, dilated, with woolly hair and keratoderma 10.2 DSC2 DSG1 DSP
37 neurotic excoriation 10.2 COL17A1 DST
38 respiratory failure 10.2
39 ritter's disease 10.2 DSG1 DSG2
40 naxos disease 10.2 DSC2 DSP
41 arrhythmogenic right ventricular dysplasia, familial, 1 10.2 DSG2 DSP
42 ectodermal dysplasia/skin fragility syndrome 10.2 DSC2 DSP
43 microscopic polyangiitis 10.2 HLA-B HLA-DRB1
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 DSC2 DSG2 DSP
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 DSC2 DSG2 DSP
46 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 DSC2 DSG2 DSP
47 striate palmoplantar keratoderma 10.1 DSG1 DSP
48 herpes gestationis 10.1 COL17A1 DST
49 idiopathic inflammatory myopathy 10.1 HLA-B HLA-DRB1
50 phenytoin or carbamazepine toxicity 10.1 HLA-A HLA-B

Graphical network of the top 20 diseases related to Paraneoplastic Pemphigus:



Diseases related to Paraneoplastic Pemphigus

Symptoms & Phenotypes for Paraneoplastic Pemphigus

Human phenotypes related to Paraneoplastic Pemphigus:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sarcoma 59 32 frequent (33%) Frequent (79-30%) HP:0100242
2 thymoma 59 32 frequent (33%) Frequent (79-30%) HP:0100522
3 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
4 oral ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0000155
5 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
6 b-cell lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0012191
7 abnormal blistering of the skin 59 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.14 HLA-A HLA-B HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.14 HLA-A HLA-B HLA-C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.14 HLA-A HLA-B HLA-C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.14 HLA-C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.14 HLA-C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.14 HLA-A HLA-B HLA-C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.14 HLA-C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.14 HLA-A HLA-B HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.14 HLA-A HLA-B HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.14 HLA-C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.14 HLA-A HLA-B HLA-C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.14 HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.14 HLA-A HLA-B HLA-C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.14 HLA-A HLA-B HLA-C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.14 HLA-C
16 Increased shRNA abundance GR00327-A 9.26 DSC1 DST HLA-B HLA-DQB1

Drugs & Therapeutics for Paraneoplastic Pemphigus

Search Clinical Trials , NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

Anatomical Context for Paraneoplastic Pemphigus

MalaCards organs/tissues related to Paraneoplastic Pemphigus:

41
Skin, B Cells, Lung, T Cells, Colon, Prostate, Myeloid

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 360)
# Title Authors Year
1
Paraneoplastic Pemphigus Associated With Castleman Disease Detected by 18F-FDG PET/CT. ( 29561527 )
2018
2
Buccal paraneoplastic pemphigus multi-resistant: Case report and review of diagnostic and therapeutic strategies. ( 29885912 )
2018
3
Paraneoplastic Pemphigus as a First Manifestation of an Intra-Abdominal Follicular Dendritic Cell Sarcoma: Rare Case and Review of the Literature. ( 29928216 )
2018
4
Paraneoplastic pemphigus without detectable anti-plakin antibodies in a patient with non-Hodgkin lymphoma. ( 29143865 )
2018
5
Image Gallery: Paraneoplastic pemphigus and follicular dendritic cell sarcoma. ( 29441554 )
2018
6
Paraneoplastic Pemphigus Associated with B-cell Chronic Lymphocytic Leukemia Treated with Ibrutinib and Rituximab. ( 29526963 )
2018
7
Paraneoplastic pemphigus without antibodies to desmoglein 1 and 3. ( 29630151 )
2018
8
Lichenoid paraneoplastic pemphigus associated with follicular lymphoma without detectable autoantibodies. ( 29761536 )
2018
9
Paraneoplastic pemphigus mimicking toxic epidermal necrolysis: An underdiagnosed entity? ( 29387753 )
2018
10
Paraneoplastic pemphigus in Russian patients: a single center case series. ( 29797440 )
2018
11
Paraneoplastic pemphigus foliaceus related to underlying breast cancer. ( 29770472 )
2018
12
Paraneoplastic pemphigus with anti-desmocollin 3 autoantibodies and chronic lymphocytic leukemia. ( 29599682 )
2018
13
Tocilizumab Cannot Prevent the Development of Bronchiolitis Obliterans in Patients With Castleman Disease-Associated Paraneoplastic Pemphigus. ( 29389687 )
2018
14
Paraneoplastic pemphigus presenting lichen planus-like lesions. ( 30216496 )
2018
15
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report. ( 30165900 )
2018
16
Correction: Paraneoplastic autoimmune multiorgan syndrome and paraneoplastic pemphigus describe the same spectrum of disease pathology. ( 29749393 )
2018
17
Suprabasal acantholytic dermatologic toxicities associated checkpoint inhibitor therapy: A spectrum of immune reactions from paraneoplastic pemphigus-like to Grover-like lesions. ( 29943453 )
2018
18
Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus. ( 30103046 )
2018
19
A rare association of paraneoplastic pemphigus with gastric signet cell ring carcinoma. ( 30515763 )
2018
20
A Case Report of Paraneoplastic Pemphigus Associated With Retroperitoneal Inflammatory Myofibroblastic Tumor. ( 28724275 )
2017
21
Paraneoplastic Pemphigus Associated with a Malignant Thymoma: A Case of Persistent and Refractory Oral Ulcerations Following Thymectomy. ( 28392652 )
2017
22
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: A case report. ( 28225504 )
2017
23
Paraneoplastic pemphigus associated with Castleman disease: progression from mucous to mucocutaneous lesions with epitope-spreading phenomena. ( 28213962 )
2017
24
Paraneoplastic Pemphigus: Insight into the Autoimmune Pathogenesis, Clinical Features and Therapy. ( 29186863 )
2017
25
Achievement of the longest survival of paraneoplastic pemphigus with bronchiolitis obliterans associated with follicular lymphoma using R-CHOP chemotherapy. ( 28791608 )
2017
26
Paraneoplastic Pemphigus. A Life-Threatening Autoimmune Blistering Disease. ( 28801011 )
2017
27
Clinical Analysis of Unicentric Castleman's Disease with Paraneoplastic Pemphigus and Bronchiolitis Obliterans. ( 28877826 )
2017
28
Successful treatment with bendamustine and rituximab for paraneoplastic pemphigus. ( 28447163 )
2017
29
Paraneoplastic pemphigus in two pairs of brothers. ( 28622444 )
2017
30
Successful use of Bruton's kinase inhibitor, ibrutinib, to control paraneoplastic pemphigus in a patient with paraneoplastic autoimmune multiorgan syndrome and chronic lymphocytic leukaemia. ( 28295171 )
2017
31
Paraneoplastic pemphigus seen in four patients with haematological malignancies formerly treated with rituximab. ( 28758262 )
2017
32
Paraneoplastic Pemphigus in a 34-year-old. ( 29447659 )
2017
33
Atypical laboratory presentation of paraneoplastic pemphigus associated with Castleman disease. ( 28367488 )
2017
34
Paraneoplastic Pemphigus with Underlying Retroperitoneal Inflammatory Myofibroblastic Tumor: A Case Report and Review of the Literature. ( 29204394 )
2017
35
Ocular Onset of Paraneoplastic Pemphigus Presenting as Hyperemic Conjunctivitis and Massive Bilateral Eyelid Ulceration: A Case Report and Literature Review. ( 27537424 )
2016
36
Peri-anal Paraneoplastic Pemphigus Heralding the Relapse of Follicular Lymphoma and Its Successful Management by Rituximab: A Short Correspondence. ( 27812271 )
2016
37
Paraneoplastic pemphigus: a short review. ( 27729809 )
2016
38
Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus. ( 27427435 )
2016
39
Reply: &amp;quot;Erosive oral lichen planus as a sign of paraneoplastic pemphigus&amp;quot;. ( 26918387 )
2016
40
Paraneoplastic pemphigus and myasthenia gravis, associated with inflammatory pseudotumor-like follicular dendritic cell sarcoma: response to rituximab. ( 27525088 )
2016
41
A case of paraneoplastic pemphigus associated with Castleman disease reacting with multiple autoantigens, including the p200 protein. ( 27115591 )
2016
42
Paraneoplastic Pemphigus Associated with Follicular Dendritic Cell Tumor in the Mediastinum. ( 27190659 )
2016
43
Castleman's Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus. ( 27014502 )
2016
44
Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. ( 26802236 )
2016
45
Erosive oral lichen planus as a sign of paraneoplastic pemphigus. ( 26946347 )
2016
46
Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment. ( 27878477 )
2016
47
A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma. ( 27270550 )
2016
48
Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission. ( 27352260 )
2016
49
Recurrent corneal melting in the paraneoplastic pemphigus associated with Castleman's disease. ( 27406120 )
2016
50
Case of paraneoplastic pemphigus with immunoglobulin (Ig)G and IgA antibodies to various antigens. ( 26969813 )
2016

Variations for Paraneoplastic Pemphigus

Expression for Paraneoplastic Pemphigus

Search GEO for disease gene expression data for Paraneoplastic Pemphigus.

Pathways for Paraneoplastic Pemphigus

Pathways related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
2
Show member pathways
12.78 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
3
Show member pathways
12.66 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
4
Show member pathways
12.6 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
5
Show member pathways
12.37 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
6 12.21 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
7 11.96 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
8 11.84 HLA-A HLA-B HLA-C
9
Show member pathways
11.82 DSG1 DSG2 DSG3 DSP
10
Show member pathways
11.77 DSP DST EVPL PPL
11 11.74 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
12
Show member pathways
11.73 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
13 11.51 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
14 11.42 DSG1 HLA-DQB1 HLA-DRB1
15 10.94 HLA-A HLA-B HLA-C

GO Terms for Paraneoplastic Pemphigus

Cellular components related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.99 BLZF1 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
2 cell surface GO:0009986 9.98 DSG2 HLA-A HLA-B HLA-C HLA-DRB1
3 cell junction GO:0030054 9.9 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
4 cell-cell junction GO:0005911 9.85 COL17A1 DSC3 DSG1 DSG2 DSP
5 intermediate filament GO:0005882 9.84 DSP DST EVPL PPL
6 recycling endosome membrane GO:0055038 9.75 HLA-A HLA-B HLA-C
7 phagocytic vesicle membrane GO:0030670 9.74 HLA-A HLA-B HLA-C
8 ficolin-1-rich granule membrane GO:0101003 9.72 DSC1 DSG1 DSP
9 ER to Golgi transport vesicle membrane GO:0012507 9.72 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
10 intercalated disc GO:0014704 9.7 DSC2 DSG2 DSP
11 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.65 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
12 MHC class I protein complex GO:0042612 9.61 HLA-A HLA-B HLA-C
13 cornified envelope GO:0001533 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
14 MHC class II protein complex GO:0042613 9.59 HLA-DQB1 HLA-DRB1
15 hemidesmosome GO:0030056 9.56 COL17A1 DST
16 desmosome GO:0030057 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
17 membrane GO:0016020 10.41 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
18 integral component of membrane GO:0016021 10.34 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
19 plasma membrane GO:0005886 10.27 COL17A1 DSC1 DSC2 DSC3 DSG1 DSG2
20 extracellular exosome GO:0070062 10.18 A2ML1 DSC1 DSC2 DSG2 DSG3 DSP

Biological processes related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.91 COL17A1 HLA-A HLA-B HLA-C
2 epidermis development GO:0008544 9.81 COL17A1 DSP EVPL
3 wound healing GO:0042060 9.81 DSP DST EVPL PPL
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
5 type I interferon signaling pathway GO:0060337 9.77 HLA-A HLA-B HLA-C
6 regulation of heart rate by cardiac conduction GO:0086091 9.74 DSC2 DSG2 DSP
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.72 HLA-A HLA-B HLA-C
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.71 HLA-A HLA-B HLA-C
9 positive regulation of T cell mediated cytotoxicity GO:0001916 9.7 HLA-A HLA-B HLA-C
10 intermediate filament cytoskeleton organization GO:0045104 9.67 DSP DST EVPL PPL
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 DSC2 DSG2 DSP
12 interferon-gamma-mediated signaling pathway GO:0060333 9.65 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
13 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.63 HLA-DQB1 HLA-DRB1
14 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.63 HLA-A HLA-B HLA-C
15 hemidesmosome assembly GO:0031581 9.62 COL17A1 DST
16 antigen processing and presentation of endogenous peptide antigen via MHC class Ib GO:0002476 9.61 HLA-A HLA-B HLA-C
17 keratinization GO:0031424 9.61 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
18 desmosome organization GO:0002934 9.59 DSG2 DSP
19 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.58 HLA-DQB1 HLA-DRB1
20 protection from natural killer cell mediated cytotoxicity GO:0042270 9.58 HLA-A HLA-B
21 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.58 DSC2 DSG2 DSP
22 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.56 HLA-DQB1 HLA-DRB1
23 antigen processing and presentation GO:0019882 9.55 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
24 cornification GO:0070268 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
25 cell adhesion GO:0007155 10.04 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
26 immune response GO:0006955 10.02 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1
27 neutrophil degranulation GO:0043312 10.01 DSC1 DSG1 DSP HLA-B HLA-C

Molecular functions related to Paraneoplastic Pemphigus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.7 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3
2 structural molecule activity GO:0005198 9.56 DSP DST EVPL PPL
3 MHC class II receptor activity GO:0032395 9.32 HLA-DQB1 HLA-DRB1
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 DSC2 DSG2 DSP
5 peptide antigen binding GO:0042605 9.02 HLA-A HLA-B HLA-C HLA-DQB1 HLA-DRB1

Sources for Paraneoplastic Pemphigus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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