MCID: PRN049
MIFTS: 42

Paraneoplastic Pemphigus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 58 17 71

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 L10.8
UMLS via Orphanet 72 C1112570
Orphanet 58 ORPHA63455
UMLS 71 C1112570

Summaries for Paraneoplastic Pemphigus

MalaCards based summary : Paraneoplastic Pemphigus is related to follicular dendritic cell sarcoma and lichen planus. 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. The drug Autoantibodies has been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and t cells, and related phenotypes are skin erosion and oral ulcer

Wikipedia : 74 Paraneoplastic pemphigus (PNP) 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 250)
# Related Disease Score Top Affiliating Genes
1 follicular dendritic cell sarcoma 31.2 PPL EVPL DSP DSG3
2 lichen planus 31.0 DST DSG3 DSG1 COL17A1
3 castleman disease 31.0 PPL EVPL DSP DSG3 DSG1
4 lichen planus pemphigoides 30.9 DST COL17A1
5 linear iga disease 30.6 DST COL17A1
6 pemphigus vegetans 30.6 PPL DSG1 DSC3
7 pseudomembranous conjunctivitis 30.2 PPL EVPL DSP DSG3
8 pemphigus foliaceus 30.2 PPL HLA-DRB1 EVPL DST DSG3 DSG2
9 hidradenitis suppurativa 30.1 DSG3 DSG1 DSC1
10 hidradenitis 30.1 DSG3 DSG1 DSC1
11 stevens-johnson syndrome/toxic epidermal necrolysis 29.9 HLA-C HLA-B HLA-A
12 iga pemphigus 29.8 PPL EVPL DSG3 DSG1 DSC3 DSC1
13 aphthous stomatitis 29.7 HLA-B HLA-A DSG3
14 pemphigus 29.4 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
15 bullous pemphigoid 29.3 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
16 herpes zoster 29.3 HLA-DRB1 HLA-B HLA-A COL17A1
17 cicatricial pemphigoid 29.2 HLA-DRB1 HLA-DQB1 DST COL17A1
18 ocular cicatricial pemphigoid 29.2 HLA-DRB1 HLA-DQB1
19 autoimmune hepatitis 29.1 HLA-DRB1 HLA-DQB1 HLA-A
20 pemphigus vulgaris, familial 29.0 PPL HLA-DRB1 EVPL DST DSP DSG3
21 autoimmune disease 28.9 HLA-DRB1 HLA-DQB1 HLA-B HLA-A DSG3 DSG1
22 severe cutaneous adverse reaction 28.7 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
23 graft-versus-host disease 28.6 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
24 common variable immunodeficiency 28.6 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
25 skin disease 28.2 HLA-C HLA-B DST DSP DSG3 DSG2
26 bullous skin disease 28.0 PPL EVPL DST DSP DSG3 DSG2
27 bronchiolitis 10.7
28 bronchiolitis obliterans 10.7
29 leukemia, chronic lymphocytic 10.6
30 stomatitis 10.6
31 respiratory failure 10.6
32 erythema multiforme 10.6
33 lymphoma 10.5
34 sarcoma 10.5
35 spindle cell sarcoma 10.5
36 pemphigus erythematosus 10.5 DSP DSG3
37 thymoma, familial 10.5
38 thymoma 10.5
39 follicular lymphoma 10.5
40 b-cell lymphoma 10.5
41 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.4 DSP DSG1
42 bullous impetigo 10.4 DSG3 DSG1
43 tinea imbricata 10.4 DSG3 DSG1
44 inflammatory myofibroblastic tumor 10.4
45 diffuse palmoplantar keratoderma 10.4 DSP DSG1
46 lymphoma, hodgkin, classic 10.4
47 conjunctivitis 10.4
48 striate palmoplantar keratoderma 10.4 DSP DSG1
49 palmoplantar keratoderma and woolly hair 10.4 DSP DSC2
50 ectodermal dysplasia/skin fragility syndrome 10.4 DSP DSC2

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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
2 oral ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0000155
3 oral mucosal blisters 58 31 hallmark (90%) Very frequent (99-80%) HP:0200097
4 sarcoma 58 31 frequent (33%) Frequent (79-30%) HP:0100242
5 b-cell lymphoma 58 31 frequent (33%) Frequent (79-30%) HP:0012191
6 thymoma 58 31 frequent (33%) Frequent (79-30%) HP:0100522
7 abnormal blistering of the skin 58 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 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.35 HLA-A HLA-B HLA-C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.35 HLA-A HLA-B HLA-C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.35 HLA-C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 10.35 HLA-A HLA-B HLA-C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.35 HLA-A HLA-B HLA-C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.35 HLA-A HLA-B HLA-C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 10.35 HLA-C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.35 HLA-A HLA-B HLA-C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.35 HLA-A HLA-B HLA-C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.35 HLA-C
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.35 HLA-C
12 Decreased viability GR00249-S 9.47 COL17A1 DSC3 HLA-A HLA-B
13 Decreased viability GR00381-A-1 9.47 HLA-DQB1
14 Decreased viability GR00381-A-3 9.47 HLA-DQB1
15 Decreased viability GR00386-A-1 9.47 A2ML1 DSC3 EVPL HLA-A HLA-DRB1
16 Decreased viability GR00402-S-2 9.47 DSP EVPL HLA-DQB1

MGI Mouse Phenotypes related to Paraneoplastic Pemphigus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 DSC1 DSC3 DSG1 DSG2 DSG3 DSP

Drugs & Therapeutics for Paraneoplastic Pemphigus

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Controlled Cross Sectional Study: Prevalence of Cutaneous Autoimmune Phenomena in HIV Infected Patients Completed NCT03129308

Search NIH Clinical Center for Paraneoplastic Pemphigus

Genetic Tests for Paraneoplastic Pemphigus

Anatomical Context for Paraneoplastic Pemphigus

MalaCards organs/tissues related to Paraneoplastic Pemphigus:

40
Skin, B Cells, T Cells, Lung, Testes, Bone, Bone Marrow

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 620)
# Title Authors PMID Year
1
18F-FDG PET/CT in Follicular Dendritic Cell Sarcoma With Paraneoplastic Pemphigus as the First Manifestation. 61
32371617 2020
2
Retrospective analysis of 45 cases of localized retroperitoneal Castleman disease from a single center. 61
32509816 2020
3
Paraneoplastic Pemphigus Mimicking Toxic Epidermal Necrolysis Associated with Follicular Lymphoma: Possible Pathological Role of CD8 T Cells. 61
32516424 2020
4
Predominant Stroma-Rich Feature in Hyaline Vascular Variant of Castleman Disease Is Associated With Paraneoplastic Pemphigus. 61
32459333 2020
5
Cutaneous paraneoplastic pemphigus syndrome associated with undifferentiated uterine sarcoma. 61
32042878 2020
6
Paraneoplastic pemphigus associated with Waldenström's macroglobulinemia. 61
32103535 2020
7
Detection of autoantibodies against alpha-2-macroglobulin-like 1 in paraneoplastic pemphigus sera utilizing novel green fluorescent protein-based immunoassays. 61
32439251 2020
8
A case in which paraneoplastic pemphigus and bronchiolitis obliterans are the main manifestations of inflammatory pseudotumour-like follicular dendritic cell sarcoma. 61
32319082 2020
9
Paraneoplastic Dermatoses: A Brief General Review and an Extensive Analysis of Paraneoplastic Pemphigus and Paraneoplastic Dermatomyositis. 61
32245283 2020
10
Persistence of antienvoplakin and antiperiplakin antibodies in a patient with paraneoplastic pemphigus 20 years after remission. 61
31529517 2020
11
Exfoliative Erythroderma: An Unusual Presentation of Paraneoplastic Pemphigus Associated with Castleman's Disease. 61
32355489 2020
12
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 61
31313078 2019
13
Refractory mucositis associated with underlying follicular dendritic cell sarcoma of the thymus: Paraneoplastic pemphigus versus malignancy-exacerbated pemphigus vulgaris. 61
31687457 2019
14
Bullous Diseases in Children: A Review of Clinical Features and Treatment Options. 61
31506891 2019
15
Cutaneous Disorders Associated with Castleman's Disease. 61
31282978 2019
16
Mucous membrane pemphigoid and oral blistering diseases. 61
31102296 2019
17
Synchronous retroperitoneal Castleman's disease with clear cell renal cell carcinoma. 61
31527211 2019
18
Castleman's disease. Large retroperitoneal masses and multiple calcifications detected by 18F-FDG PET/CT. 61
31587031 2019
19
Follicular dendritic cell sarcoma aggravated by hyaline-vascular Castleman's disease in association with paraneoplastic pemphigus: study of the tumor and successful treatment. 61
31777359 2019
20
Tocilizumab Cannot Prevent the Development of Bronchiolitis Obliterans in Patients With Castleman Disease-Associated Paraneoplastic Pemphigus. 61
29389687 2019
21
[Paraneoplastic skin diseases]. 61
31273399 2019
22
Rituximab as a dual therapeutic option for pemphigus and primary cutaneous B-cell lymphomas: Two case reports. 61
31025498 2019
23
Oral lichen planus: A disease or a spectrum of tissue reactions? Types, causes, diagnostic algorhythms, prognosis, management strategies. 61
31090143 2019
24
Risk factors for death and survival in paraneoplastic pemphigus associated with hematologic malignancies in adults. 61
30981429 2019
25
Paraneoplastic pemphigus and myasthenia gravis as the first manifestations of a rare case of pancreatic follicular dendritic cell sarcoma: CT findings and review of literature. 61
31200650 2019
26
Paraneoplastic Pemphigus with Underlying Castleman's Disorder: A Rare Report with Literature Review. 61
31501721 2019
27
Decreased recognition of paraneoplastic pemphigus in patients previously treated with anti-CD 20 monoclonal antibodies. 61
30648258 2019
28
A rare association of paraneoplastic pemphigus with gastric signet cell ring carcinoma. 61
30515763 2019
29
Paraneoplastic pemphigus presenting lichen planus-like lesions. 61
30216496 2019
30
Review of paraneoplastic syndromes in children. 61
30877339 2019
31
Development of an electronic medical record-based algorithm to identify patients with Stevens-Johnson syndrome and toxic epidermal necrolysis in Japan. 61
31408480 2019
32
Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus. 61
31275323 2019
33
[Follicular lymphoma accompanied by paraneoplastic pemphigus and bronchiolitis obliterans: a case report]. 61
30726827 2019
34
Radiation-Associated Pemphigus Vulgaris in a Patient With Preceding Malignancy: Treatment With Rituximab as a Valuable Option. 61
32038636 2019
35
Paraneoplastic pemphigus: a clinical, laboratorial, and therapeutic overview. 61
31644609 2019
36
Paraneoplastic Pemphigus: Paraneoplastic Autoimmune Disease of the Skin and Mucosa. 61
31214197 2019
37
Paraneoplastic Pemphigus Revealed by Anti-programmed Death-1 Pembrolizumab Therapy for Cutaneous Squamous Cell Carcinoma Complicating Hidradenitis Suppurativa. 61
31750309 2019
38
Masked pemphigus among pediatric patients with Castleman's disease. 61
30411519 2019
39
Pemphigus erythematosus and cutaneous epitheliotropic lymphoma in a Labrador Retriever dog. 61
31656530 2019
40
Buccal paraneoplastic pemphigus multi-resistant: Case report and review of diagnostic and therapeutic strategies. 61
29885912 2018
41
[Paraneoplastic pemphigus: Retrospective study of a case series]. 61
30126641 2018
42
Suprabasal acantholytic dermatologic toxicities associated checkpoint inhibitor therapy: A spectrum of immune reactions from paraneoplastic pemphigus-like to Grover-like lesions. 61
29943453 2018
43
Paraneoplastic pemphigus foliaceus related to underlying breast cancer. 61
29770472 2018
44
Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus. 61
30103046 2018
45
Pemphigus vulgaris as the first manifestation of multiple myeloma: a case report. 61
30189893 2018
46
Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report. 61
30165900 2018
47
Paraneoplastic Pemphigus Associated with B-cell Chronic Lymphocytic Leukemia Treated with Ibrutinib and Rituximab. 61
29526963 2018
48
Paraneoplastic pemphigus in Russian patients: a single center case series. 61
29797440 2018
49
[Small lymphocytic lymphoma with paraneoplastic pemphigus: a case report and literature review]. 61
30122024 2018
50
Lichenoid paraneoplastic pemphigus associated with follicular lymphoma without detectable autoantibodies. 61
29761536 2018

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 PPL EVPL DSP DSG3 DSG2 DSG1
2
Show member pathways
12.74 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3
Show member pathways
12.63 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
4
Show member pathways
12.58 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
5 12.55 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
6
Show member pathways
12.32 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
7 12 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
8
Show member pathways
11.74 PPL EVPL DST DSP
9 11.74 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
10
Show member pathways
11.73 PPL EVPL DSP DSG3 DSG2 DSG1
11 11.68 HLA-DRB1 HLA-DQB1 DSG1
12 11.52 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
13 10.94 HLA-C HLA-B HLA-A

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 membrane GO:0016020 10.41 PPL MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B
2 integral component of membrane GO:0016021 10.36 MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3 plasma membrane GO:0005886 10.34 PPL MPIG6B HLA-DRB1 HLA-DQB1 HLA-C HLA-B
4 extracellular exosome GO:0070062 10.18 PPL HLA-DRB1 HLA-C HLA-B HLA-A EVPL
5 Golgi membrane GO:0000139 10 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A BLZF1
6 cell junction GO:0030054 10 PPL EVPL DST DSP DSG3 DSG2
7 cell surface GO:0009986 9.99 HLA-DRB1 HLA-C HLA-B HLA-A DSG2
8 intermediate filament GO:0005882 9.89 PPL HLA-DRB1 EVPL DST DSP
9 ER to Golgi transport vesicle membrane GO:0012507 9.77 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
10 cell-cell junction GO:0005911 9.76 DSP DSG3 DSG2 DSG1 DSC3 DSC2
11 recycling endosome membrane GO:0055038 9.75 HLA-C HLA-B HLA-A
12 phagocytic vesicle membrane GO:0030670 9.74 HLA-C HLA-B HLA-A
13 ficolin-1-rich granule membrane GO:0101003 9.72 DSP DSG1 DSC1
14 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.72 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
15 intercalated disc GO:0014704 9.71 DSP DSG2 DSC2
16 MHC class I protein complex GO:0042612 9.65 HLA-C HLA-B HLA-A
17 desmosome GO:0030057 9.61 PPL EVPL DSP DSG3 DSG2 DSG1
18 MHC class II protein complex GO:0042613 9.58 HLA-DRB1 HLA-DQB1
19 hemidesmosome GO:0030056 9.56 DST COL17A1
20 cornified envelope GO:0001533 9.28 PPL EVPL DSP DSG3 DSG2 DSG1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.07 DST DSG3 DSG2 DSG1 DSC3 DSC2
2 immune response GO:0006955 10.03 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3 neutrophil degranulation GO:0043312 10.01 HLA-C HLA-B DSP DSG1 DSC1
4 regulation of immune response GO:0050776 9.92 HLA-C HLA-B HLA-A COL17A1
5 epidermis development GO:0008544 9.85 HLA-DRB1 EVPL DSP COL17A1
6 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.85 DSG3 DSG2 DSG1 DSC3 DSC2 DSC1
7 wound healing GO:0042060 9.84 PPL EVPL DST DSP
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.8 HLA-C HLA-B HLA-A
9 type I interferon signaling pathway GO:0060337 9.78 HLA-C HLA-B HLA-A
10 regulation of heart rate by cardiac conduction GO:0086091 9.74 DSP DSG2 DSC2
11 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.73 HLA-C HLA-B HLA-A
12 interferon-gamma-mediated signaling pathway GO:0060333 9.72 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
13 intermediate filament cytoskeleton organization GO:0045104 9.71 PPL EVPL DST DSP
14 cell-cell adhesion GO:0098609 9.7 DSP DSG3 DSG2 DSG1 DSC3 DSC2
15 detection of bacterium GO:0016045 9.69 HLA-DRB1 HLA-B HLA-A
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.67 DSP DSG2 DSC2
17 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.65 HLA-C HLA-B HLA-A
18 antigen processing and presentation GO:0019882 9.65 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
19 hemidesmosome assembly GO:0031581 9.63 DST COL17A1
20 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.63 HLA-C HLA-B HLA-A
21 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.61 DSP DSG2 DSC2
22 keratinization GO:0031424 9.61 PPL EVPL DSP DSG3 DSG2 DSG1
23 protection from natural killer cell mediated cytotoxicity GO:0042270 9.6 HLA-B HLA-A
24 desmosome organization GO:0002934 9.59 DSP DSG2
25 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.58 HLA-DRB1 HLA-DQB1
26 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.58 HLA-DRB1 HLA-DQB1
27 cornification GO:0070268 9.28 PPL EVPL DSP DSG3 DSG2 DSG1

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 9.8 DST DSG3 DSG2 DSG1 DSC3 DSC2
2 structural molecule activity GO:0005198 9.62 PPL EVPL DST DSP
3 structural constituent of cytoskeleton GO:0005200 9.61 PPL HLA-DRB1 DSP
4 gamma-catenin binding GO:0045295 9.4 DSG1 DSC3
5 MHC class II receptor activity GO:0032395 9.37 HLA-DRB1 HLA-DQB1
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.33 DSP DSG2 DSC2
7 TAP binding GO:0046977 9.13 HLA-C HLA-B HLA-A
8 peptide antigen binding GO:0042605 9.02 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A

Sources for Paraneoplastic Pemphigus

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17 EFO
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44 MESH via Orphanet
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72 UMLS via Orphanet
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