MCID: PRN049
MIFTS: 44

Paraneoplastic Pemphigus

Categories: Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Paraneoplastic Pemphigus

MalaCards integrated aliases for Paraneoplastic Pemphigus:

Name: Paraneoplastic Pemphigus 12 58 17 70

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:

Disease Ontology 12 DOID:0080852
ICD10 via Orphanet 33 L10.8
UMLS via Orphanet 71 C1112570
Orphanet 58 ORPHA63455
UMLS 70 C1112570

Summaries for Paraneoplastic Pemphigus

Disease Ontology : 12 A pemphigus that is characterised by painful blisters and denuded areas of the mouth, lips, oesophagus and skin.

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. Affiliated tissues include skin, lung and bone marrow, and related phenotypes are skin erosion and oral ulcer

Wikipedia : 73 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 259)
# Related Disease Score Top Affiliating Genes
1 follicular dendritic cell sarcoma 31.1 PPL EVPL DSP DSG3
2 lichen planus 31.0 DST DSG3 DSG1 COL17A1
3 thymoma 30.9 PPL EVPL DSP
4 lichen planus pemphigoides 30.7 DST COL17A1
5 pemphigoid 30.7 HLA-DRB1 HLA-DQB1 DST COL17A1
6 pemphigus vegetans 30.6 PPL DSG1 DSC3
7 linear iga disease 30.5 DST COL17A1
8 pemphigus foliaceus 30.4 PPL HLA-DRB1 EVPL DST DSG3 DSG2
9 stevens-johnson syndrome/toxic epidermal necrolysis 30.1 HLA-C HLA-B HLA-A
10 iga pemphigus 30.0 PPL EVPL DSG3 DSG1 DSC3 DSC1
11 pseudomembranous conjunctivitis 29.9 PPL EVPL DSP DSG3 DSG1
12 bullous pemphigoid 29.8 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
13 pemphigus 29.7 PPL HLA-DRB1 HLA-DQB1 EVPL DST DSP
14 aphthous stomatitis 29.7 HLA-DRB1 HLA-B HLA-A
15 pemphigus vulgaris, familial 29.7 PPL HLA-DRB1 EVPL DST DSP DSG3
16 autoimmune disease 29.5 HLA-DRB1 HLA-DQB1 HLA-B HLA-A DSG3 DSG1
17 herpes zoster 29.5 HLA-DRB1 HLA-B HLA-A COL17A1
18 cicatricial pemphigoid 29.4 HLA-DRB1 HLA-DQB1 DST COL17A1
19 autoimmune hepatitis 29.4 HLA-DRB1 HLA-DQB1 HLA-A
20 graft-versus-host disease 29.2 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
21 severe cutaneous adverse reaction 29.1 PPL HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
22 common variable immunodeficiency 28.9 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
23 skin disease 28.9 HLA-C HLA-B DST DSP DSG3 DSG2
24 bullous skin disease 28.9 PPL EVPL DST DSP DSG3 DSG2
25 bronchiolitis 10.7
26 bronchiolitis obliterans 10.7
27 leukemia, chronic lymphocytic 10.6
28 stomatitis 10.6
29 respiratory failure 10.6
30 castleman disease 10.6
31 sarcoma 10.6
32 spindle cell sarcoma 10.6
33 erythema multiforme 10.6
34 thymoma, familial 10.5
35 follicular lymphoma 10.5
36 b-cell lymphoma 10.4
37 conjunctivitis 10.4
38 lymphoma, hodgkin, classic 10.4
39 inflammatory myofibroblastic tumor 10.4
40 pemphigus erythematosus 10.4 DSP DSG3
41 lymphoma, non-hodgkin, familial 10.4
42 lymphoproliferative syndrome 10.4
43 mucositis 10.4
44 erythema multiforme major 10.4
45 tinea imbricata 10.4 DSG3 DSG1
46 bullous impetigo 10.3 DSG3 DSG1
47 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSP DSG1
48 myasthenia gravis 10.3
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
50 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.3

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

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:

40
Skin, Lung, Bone Marrow, Tongue, Myeloid, Thyroid, T Cells

Publications for Paraneoplastic Pemphigus

Articles related to Paraneoplastic Pemphigus:

(show top 50) (show all 657)
# Title Authors PMID Year
1
Castleman disease and paraneoplastic pemphigus in a pregnant woman: A case report. 61
33787583 2021
2
Paraneoplastic pemphigus manifesting in a patient treated with pembrolizumab for urothelial carcinoma. 61
33778141 2021
3
Autoantibodies to desmocollin 3 in pemphigus exclusively recognize calcium-dependent epitope in extracellular domain 2. 61
33766509 2021
4
Successful use of intravenous and intralesional rituximab in paraneoplastic pemphigus with Castleman's disease. 61
33720390 2021
5
Paraneoplastic pemphigus: revised diagnostic criteria based on literature analysis. 61
33719070 2021
6
Fatal progression of bronchiolitis obliterans in spite of complete remission of follicular lymphoma and paraneoplastic pemphigus. 61
33754167 2021
7
Detecting Lesional Granulysin Levels for Rapid Diagnosis of Cytotoxic T lymphocyte-Mediated Bullous Skin Disorders. 61
33039642 2021
8
Drug-induced pemphigus: A systematic review of 170 patients. 61
33418246 2021
9
Intraepithelial Autoimmune Blistering Dermatoses: Clinical Features and Diagnosis. 61
33684498 2021
10
Clinical characteristics and immunological abnormalities of Castleman disease complicated with autoimmune diseases. 61
33544201 2021
11
Paraneoplastic pemphigus associated with Castleman's disease and thyroid carcinoma with anti-BP180, BP230 and antidesmocollin autoantibodies. 61
33586880 2021
12
Paraneoplastic pemphigus and fatal bronchiolitis obliterans associated with Castleman disease: Report of an autopsy case. 61
33382501 2021
13
A Case of Paraneoplastic Pemphigus with Follicular Dendritic Cell Sarcoma. 61
33621533 2021
14
Paraneoplastic pemphigus associated with small lymphocytic lymphoma: A case report. 61
33466152 2021
15
Cutaneous involvement as initial presentation of multicentric plasmacytic Castleman disease. 61
33469928 2021
16
Multidisciplinary diagnosis and treatment of recurrent follicular dendritic cell sarcoma in abdomen: A case report. 61
33371089 2020
17
New Clinicopathologic Scenarios of EBV+ Inflammatory Follicular Dendritic Cell Sarcoma: Report of 9 Extrahepatosplenic Cases. 61
33264138 2020
18
Immune-Mediated Dermatoses in Patients with Haematological Malignancies: A Comprehensive Review. 61
32813229 2020
19
Thalidomide as a potential adjuvant treatment for paraneoplastic pemphigus: A single-center experience. 61
32990359 2020
20
Systemic steroids and risk of fecal-oral shedding and increased transmission of SARS-CoV-2 in pemphigus cases. 61
33341209 2020
21
Deep pemphigus (pemphigus vulgaris, pemphigus vegetans and paraneoplastic pemphigus) in dogs, cats and horses: a comprehensive review. 61
33228633 2020
22
Immune serological diagnosis of pemphigus. 61
33228340 2020
23
Paraneoplastic pemphigus associated with a pericardial ectopic thymoma. 61
32840923 2020
24
Chronic lymphocytic leukemia-associated paraneoplastic pemphigus: potential cause and therapeutic strategies. 61
33004832 2020
25
Paraneoplastic pemphigus with cicatricial nail involvement. 61
33186431 2020
26
Cutaneous manifestations of Castleman disease. 61
32686150 2020
27
Successful treatment with i.v. immunoglobulin and rituximab for bronchiolitis obliterans associated with paraneoplastic pemphigus. 61
32656784 2020
28
Paraneoplastic Pemphigus Associated with Bilateral Corneal Perforations in Follicular Dendritic Cell Sarcoma. 61
33048604 2020
29
Paraneoplastic autoimmune multiorgan syndrome (PAMS). 61
33070576 2020
30
Predominant Stroma-Rich Feature in Hyaline Vascular Variant of Castleman Disease Is Associated With Paraneoplastic Pemphigus. 61
32459333 2020
31
A case in which paraneoplastic pemphigus and bronchiolitis obliterans are the main manifestations of inflammatory pseudotumour-like follicular dendritic cell sarcoma. 61
32319082 2020
32
BIOCHIP mosaic for the diagnosis of autoimmune bullous diseases in Chinese patients. 61
32969793 2020
33
Pemphigus Vulgaris and Bullous Pemphigoid: Update on Diagnosis and Treatment. 61
32642305 2020
34
Intra-abdominal inflammatory pseudotumor-like follicular dendritic cell sarcoma associated with paraneoplastic pemphigus: A case report and review of the literature. 61
32775392 2020
35
A Novel Use of Topical Ketamine for the Treatment of Oral Pemphigus: A Case Report. 61
32713289 2020
36
18F-FDG PET/CT in Follicular Dendritic Cell Sarcoma With Paraneoplastic Pemphigus as the First Manifestation. 61
32371617 2020
37
Paraneoplastic Pemphigus Mimicking Toxic Epidermal Necrolysis Associated with Follicular Lymphoma: Possible Pathological Role of CD8 T Cells. 61
32516424 2020
38
Retrospective analysis of 45 cases of localized retroperitoneal Castleman disease from a single center. 61
32509816 2020
39
Detection of autoantibodies against alpha-2-macroglobulin-like 1 in paraneoplastic pemphigus sera utilizing novel green fluorescent protein-based immunoassays. 61
32439251 2020
40
Paraneoplastic Pemphigus: An Indication for Treatment in Chronic Lymphocytic Leukemia. 61
32607299 2020
41
Paraneoplastic pemphigus associated with Waldenström's macroglobulinemia. 61
32103535 2020
42
Cutaneous paraneoplastic pemphigus syndrome associated with undifferentiated uterine sarcoma. 61
32042878 2020
43
Paraneoplastic Dermatoses: A Brief General Review and an Extensive Analysis of Paraneoplastic Pemphigus and Paraneoplastic Dermatomyositis. 61
32245283 2020
44
Persistence of antienvoplakin and antiperiplakin antibodies in a patient with paraneoplastic pemphigus 20 years after remission. 61
31529517 2020
45
Follicular lymphoma with paraneoplastic pemphigus as the first symptom: a case report and review of the literature. 61
32782723 2020
46
Paraneoplastic Pemphigus Involving the Respiratory and Gastrointestinal Mucosae. 61
32685228 2020
47
Exfoliative Erythroderma: An Unusual Presentation of Paraneoplastic Pemphigus Associated with Castleman's Disease. 61
32355489 2020
48
Radiotherapy-Associated Paraneoplastic Pemphigus and Its Complications in a Patient with Nasopharyngeal Carcinoma. 61
33457363 2020
49
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm. 61
31313078 2019
50
Refractory mucositis associated with underlying follicular dendritic cell sarcoma of the thymus: Paraneoplastic pemphigus versus malignancy-exacerbated pemphigus vulgaris. 61
31687457 2019

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 PPL EVPL DSP DSG3 DSG2 DSG1
2
Show member pathways
12.76 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
12.62 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
5 12.57 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
6
Show member pathways
12.35 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
11.8 DSP DSG3 DSG2 DSG1
9
Show member pathways
11.74 PPL EVPL DST DSP
10 11.74 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
11
Show member pathways
11.73 PPL EVPL DSP DSG3 DSG2 DSG1
12 11.69 HLA-DRB1 HLA-DQB1 DSG1
13 11.53 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
14 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 9.98 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 9.59 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 30)
# 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 10.04 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
3 neutrophil degranulation GO:0043312 10.03 HLA-C HLA-B DSP DSG1 DSC1
4 adaptive immune response GO:0002250 10.02 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
5 regulation of immune response GO:0050776 9.92 HLA-C HLA-B HLA-A COL17A1
6 epidermis development GO:0008544 9.86 HLA-DRB1 EVPL DSP COL17A1
7 wound healing GO:0042060 9.85 PPL EVPL DST DSP
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.81 HLA-C HLA-B HLA-A
9 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSG3 DSG2 DSG1 DSC3 DSC2 DSC1
10 type I interferon signaling pathway GO:0060337 9.79 HLA-C HLA-B HLA-A
11 interferon-gamma-mediated signaling pathway GO:0060333 9.77 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
12 regulation of heart rate by cardiac conduction GO:0086091 9.76 DSP DSG2 DSC2
13 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.74 HLA-C HLA-B HLA-A
14 positive regulation of T cell mediated cytotoxicity GO:0001916 9.71 HLA-DRB1 HLA-B HLA-A
15 intermediate filament cytoskeleton organization GO:0045104 9.71 PPL EVPL DST DSP
16 cell-cell adhesion GO:0098609 9.7 DSP DSG3 DSG2 DSG1 DSC3 DSC2
17 detection of bacterium GO:0016045 9.69 HLA-DRB1 HLA-B HLA-A
18 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.67 DSP DSG2 DSC2
19 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.65 HLA-DRB1 HLA-DQB1
20 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.65 HLA-C HLA-B HLA-A
21 antigen processing and presentation GO:0019882 9.65 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A
22 hemidesmosome assembly GO:0031581 9.64 DST COL17A1
23 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
24 protection from natural killer cell mediated cytotoxicity GO:0042270 9.61 HLA-B HLA-A
25 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.61 DSP DSG2 DSC2
26 keratinization GO:0031424 9.61 PPL EVPL DSP DSG3 DSG2 DSG1
27 desmosome organization GO:0002934 9.6 DSP DSG2
28 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.59 HLA-DRB1 HLA-DQB1
29 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.58 HLA-DRB1 HLA-DQB1
30 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 constituent of cytoskeleton GO:0005200 9.63 PPL HLA-DRB1 DSP
3 structural molecule activity GO:0005198 9.62 PPL EVPL DST DSP
4 gamma-catenin binding GO:0045295 9.43 DSG1 DSC3
5 T cell receptor binding GO:0042608 9.4 HLA-DRB1 HLA-A
6 MHC class II receptor activity GO:0032395 9.37 HLA-DRB1 HLA-DQB1
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.33 DSP DSG2 DSC2
8 TAP binding GO:0046977 9.13 HLA-C HLA-B HLA-A
9 peptide antigen binding GO:0042605 9.02 HLA-DRB1 HLA-DQB1 HLA-C HLA-B HLA-A

Sources for Paraneoplastic Pemphigus

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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