MCID: SMN007
MIFTS: 42

Seminoma

Categories: Cancer diseases, Reproductive diseases

Aliases & Classifications for Seminoma

MalaCards integrated aliases for Seminoma:

Name: Seminoma 12 73 54 44 15 70
Seminoma, Pure 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4440
MeSH 44 D018239
NCIt 50 C9309
SNOMED-CT 67 443675005
UMLS 70 C0036631

Summaries for Seminoma

Disease Ontology : 12 A germinoma that has material basis in cells that make sperm and eggs.

MalaCards based summary : Seminoma, also known as seminoma, pure, is related to testicular seminoma and testicular germ cell tumor. An important gene associated with Seminoma is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Thiamine metabolism. The drugs Granisetron and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include testis, lymph node and testes, and related phenotype is digestive/alimentary.

Wikipedia : 73 A seminoma is a germ cell tumor of the testicle or, more rarely, the mediastinum or other extra-gonadal... more...

Related Diseases for Seminoma

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

(show top 50) (show all 519)
# Related Disease Score Top Affiliating Genes
1 testicular seminoma 33.3 CGB3 AFP
2 testicular germ cell tumor 33.0 KIT FGFR3 AFP
3 extragonadal seminoma 32.6 KIT AFP
4 testicular spermatocytic seminoma 32.5 MAGEA4 FGFR3
5 mediastinum seminoma 32.4 KIT ALPP AFP
6 spermatocytoma 32.3 SSX2 POU5F1 MAGEA4 KIT FGFR3 AFP
7 nonseminomatous germ cell tumor 32.1 CGB7 CGB5 AFP
8 mixed germ cell cancer 32.0 TNFRSF8 KIT AFP
9 testicular cancer 31.2 SSX2 RASSF1 MAGEA4 FGFR3 ENO2 DAZL
10 testicular germ cell cancer 31.0 KIT FGFR3 ALPP AFP
11 germ cell cancer 31.0 POU5F1 KIT ENO2 ALPP ALPG AFP
12 embryonal carcinoma 31.0 TNFRSF8 POU5F1 KIT CGB5 CGB3 ALPG
13 teratoma 30.9 POU5F1 KIT FGFR3 ENO2 CGB7 CGB5
14 choriocarcinoma 30.8 CGB7 CGB5 CGB3 ALPP ALPG
15 cryptorchidism, unilateral or bilateral 30.8 POU5F1 KIT DAZL CGB5 ALPP ALPG
16 mixed germ cell tumor 30.8 KIT CGB3 AFP
17 extragonadal germ cell cancer 30.8 CGB5 AFP
18 endodermal sinus tumor 30.6 TNFRSF8 INHA CGB5 CGB3 ALPP ALPG
19 dysgerminoma 30.6 KIT INHA ENO2 ALPP ALPG AFP
20 gonadoblastoma 30.5 POU5F1 KIT CGB5 CGB3 ALPP ALPG
21 gonadal dysgenesis 30.5 POU5F1 KIT CGB5
22 sertoli cell tumor 30.5 INHA ENO2 ALPP AFP
23 mature teratoma 30.5 TNFRSF8 POU5F1 KIT ENO2 AFP
24 intermediate malignant teratoma 30.5 TNFRSF8 AFP
25 central nervous system germinoma 30.5 POU5F1 ALPP
26 germinoma 30.4 POU5F1 PDPN KIT INHA CGB5 CGB3
27 malignant teratoma 30.3 TNFRSF8 POU5F1 KIT ENO2 CGB5 AFP
28 brain germinoma 30.3 POU5F1 MAGEA4 KIT AFP
29 mediastinal cancer 30.2 TNFRSF8 KIT ENO2 AFP
30 gonadal germ cell tumor 30.2 CGB5 AFP
31 testicular disease 30.1 TNFRSF8 POU5F1 KIT AFP
32 chromosomal triplication 30.1 CGB7 CGB3 AFP
33 dysgerminoma of ovary 30.0 POU5F1 KIT ALPP AFP
34 epididymo-orchitis 30.0 DAZL AFP
35 hemangiopericytoma, malignant 29.9 SSX2 KIT ENO2
36 intratubular embryonal carcinoma 29.9 TNFRSF8 POU5F1 KIT AFP
37 sarcoma, synovial 29.8 TNFRSF8 SSX2 RASSF1 KIT
38 pineal gland cancer 29.8 ENO2 AFP
39 peripheral t-cell lymphoma 29.7 TNFRSF8 TCL1A FGFR3
40 testis seminoma 11.3
41 tubular variant testicular seminoma 11.0
42 cribriform variant testicular seminoma 11.0
43 pseudoglandular variant testicular seminoma 11.0
44 germ cells tumors 10.7
45 gallbladder leiomyosarcoma 10.5 KIT AFP
46 sacrococcygeal teratoma 10.5 CGB7 AFP
47 triploidy 10.5 CGB7 AFP
48 in situ carcinoma 10.5
49 mixed ductal-endocrine carcinoma 10.5 CGB7 CGB3
50 patellofemoral pain syndrome 10.5 CGB7 CGB3

Graphical network of the top 20 diseases related to Seminoma:



Diseases related to Seminoma

Symptoms & Phenotypes for Seminoma

MGI Mouse Phenotypes related to Seminoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 FGFR3 INHA KIT MMP16 PDPN POU5F1

Drugs & Therapeutics for Seminoma

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

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
2
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
3
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
4
Etoposide Approved Phase 3 33419-42-0 36462
5
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
6
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
7
Mesna Approved, Investigational Phase 3 3375-50-6 598
8
Diphenhydramine Approved, Investigational Phase 3 147-24-0, 58-73-1 3100
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
10
Lenograstim Approved, Investigational Phase 3 135968-09-1
11
Promethazine Approved, Investigational Phase 3 60-87-7 4927
12
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
13 Antiemetics Phase 3
14 Gastrointestinal Agents Phase 3
15 Neurotransmitter Agents Phase 3
16 Immunologic Factors Phase 3
17 Etoposide phosphate Phase 3
18 Antimitotic Agents Phase 3
19 Adjuvants, Immunologic Phase 3
20 Albumin-Bound Paclitaxel Phase 3
21 Tubulin Modulators Phase 3
22 Histamine H2 Antagonists Phase 3
23 Antibiotics, Antitubercular Phase 3
24 Anti-Bacterial Agents Phase 3
25 Dermatologic Agents Phase 3
26 Podophyllotoxin Phase 3 518-28-5
27 Keratolytic Agents Phase 3
28
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
29
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
30
Fluorouracil Approved Phase 2 51-21-8 3385
31
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
32
leucovorin Approved Phase 2 58-05-9 6006
33
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
34
Ipilimumab Approved Phase 2 477202-00-9
35
nivolumab Approved Phase 2 946414-94-4
36
Durvalumab Approved, Investigational Phase 2 1428935-60-7
37
Ifosfamide Approved Phase 2 3778-73-2 3690
38
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
39
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
40
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962
41
Alvocidib Experimental, Investigational Phase 2 146426-40-6, 131740-09-5 5287969
42
Tremelimumab Investigational Phase 2 745013-59-6
43 Micronutrients Phase 2
44 Antidotes Phase 2
45 Trace Elements Phase 2
46 Nutrients Phase 2
47 Vitamin B Complex Phase 2
48 Folate Phase 2
49 Hormones Phase 2
50 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Trial of Imaging and Schedule in Seminoma Testis Unknown status NCT00589537 Phase 3
2 A Study to Investigate the Efficacy and Tolerability of Two Dose Levels of Lerisetron Compared With Granisetron in Patients Receiving Radiotherapy for Stage I Seminoma Unknown status NCT00004219 Phase 3 granisetron hydrochloride;lerisetron
3 Carboplatin in the Adjuvant Treatment of Stage I Seminoma: A Radomized Comparison of Single Agent Carboplatin With Radiotherapy in the Adjuvant Treatment of Stage I Seminoma of the Testis, Following Orchidectomy Completed NCT00003014 Phase 3 carboplatin
4 A Randomized Phase III Trial Comparing Conventional-Dose Chemotherapy Using Paclitaxel, Ifosfamide, and Cisplatin (TIP) With High-Dose Chemotherapy Using Mobilizing Paclitaxel Plus Ifosfamide Followed by High-Dose Carboplatin and Etoposide (TI-CE) as First Salvage Treatment in Relapsed or Refractory Germ Cell Tumors Recruiting NCT02375204 Phase 3 paclitaxel;ifosfamide;cisplatin;pegylated G-CSF;G-CSF;carboplatin;etoposide phosphate
5 A Randomized Phase III Study Comparing One Course of Adjuvant Bleomycin, Etoposide and Cisplatin (BEP) and One Course of Carboplatin AUC7 in Clinical Stage I Seminomatous Testicular Cancer Recruiting NCT02341989 Phase 3 Bleomycin Etoposide and Cisplatin;Carboplatin
6 A Phase 3 Study of Active Surveillance for Low Risk and a Randomized Trial of Carboplatin vs. Cisplatin for Standard Risk Pediatric and Adult Patients With Germ Cell Tumors Recruiting NCT03067181 Phase 3 Bleomycin;Carboplatin;Cisplatin;Etoposide;Etoposide Phosphate
7 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
8 A Non-randomized Phase 2 Study of Alvocidib (Flavopiridol) Plus Oxaliplatin With or Without 5-FU and Leucovorin for Relapsed or Refractory Germ-Cell Tumors Completed NCT00957905 Phase 2 Alvocidib Hydrochloride;Fluorouracil;Leucovorin Calcium;Oxaliplatin
9 A Multi-Centre Phase II Study Using Carboplatin AUC-10 for Metastatic Seminoma With IGCCCG Good Prognosis Disease-Therapy Directed by Initial Metabolic Response on PET-CT Completed NCT02272816 Phase 2 Carboplatin AUC-10
10 A Prospective,Multicenter, Phase II Study to Evaluate the Contribution of the Imaging TEP to the Expression of intégrines αvβ3 for the Characterization of the Residual Masses of Non-seminoma Tumors at the End of Chemotherapy Completed NCT02317393 Phase 2
11 Phase II Trial of the Cyclin-Dependent Kinase Inhibitor PD 0332991 in Patients With Cancer Completed NCT01037790 Phase 2 PD-0332991
12 Therapeutic Strategy Guided by PET-TDM for Patients With Grade I or Metastatic Seminoma Recruiting NCT01887340 Phase 2 Carboplatin;Etoposide;Cisplatin
13 Reduced Intensity Radio-chemotherapy for Stage IIA/B Seminoma. A Multicenter, Open Label Phase II Trial With Two Cohorts Recruiting NCT03937843 Phase 2 Carboplatin;Cisplatin;Etoposide
14 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
15 A Single-arm, Phase II Study of Durvalumab (MEDI4736) and Tremelimumab for Relapsed/Refractory Germ Cell Tumors Recruiting NCT03158064 Phase 2 Durvalumab;Tremelimumab
16 Carboplatin Chemotherapy and Involved Node Radiotherapy in Stage IIA/B Seminoma Active, not recruiting NCT01593241 Phase 2 Carboplatin
17 Multicenter Phase 2 Trial of ARQ 197 for Subjects With Relapsed or Refractory Germ Cell Tumors Terminated NCT01055067 Phase 2 Tivantinib (ARQ 197)
18 A Phase II Study Of Imatinib Mesylate (Gleevec, Formerly Known As STI571; IND 61,135, NSC #716051) In Patients With Refractory Seminoma Terminated NCT00042952 Phase 2 imatinib mesylate
19 Multicenter Single Arm Phase II Study of Single Agent Palifosfamide in Recurrent and Incurable Germ Cell Tumors Terminated NCT01808534 Phase 2 palifosfamide
20 CTLA-4 Blockade With MDX-010 to Induce Graft-Versus-Malignancy Effects Following Allogeneic Hematopoietic Stem Cell Transplantation Completed NCT00060372 Phase 1 ipilimumab;therapeutic allogeneic lymphocytes
21 Epigenetic Integrity of Spermatozoa in Patients With Germinal Testicular Tumours: Potential Risks and Consequences for the Conceptus Unknown status NCT03262207
22 A Phase II Study of Adjuvant Proton Radiation Therapy for the Treatment of Stage I, IIA and IIB Seminoma Completed NCT01557790
23 Molecular Epidemiology of Pediatric Germ Cell Tumors Completed NCT01434355
24 Cardiac Function and Cardiovascular Risk Profile in Testicular Cancer Patients Completed NCT00705094
25 A Prospective Observational Cohort Study to Assess miRNA 371 for Outcome Prediction in Patients With Newly Diagnosed Germ Cell Tumors Recruiting NCT04435756
26 Surgery in Early Metastatic Seminoma (SEMS): Phase II Trial of Retroperitoneal Lymph Node Dissection as First-Line Treatment for Testicular Seminoma With Isolated Retroperitoneal Disease (1-3cm) Active, not recruiting NCT02537548

Search NIH Clinical Center for Seminoma

Cochrane evidence based reviews: seminoma

Genetic Tests for Seminoma

Anatomical Context for Seminoma

MalaCards organs/tissues related to Seminoma:

40
Testis, Lymph Node, Testes, Ovary, Prostate, Pineal, Kidney

Publications for Seminoma

Articles related to Seminoma:

(show top 50) (show all 5404)
# Title Authors PMID Year
1
TCL1 protein expression in testicular germ cell tumors. 54 61
20395523 2010
2
SCF and c-kit expression profiles in male individuals with normal and impaired spermatogenesis. 54 61
20384797 2010
3
Expression of embryonic stem cell markers in cultured JKT-1, a cell line derived from a human seminoma. 54 61
19226408 2010
4
Immunohistochemical expression of the KIT protein (CD117) in normal and neoplastic canine testes. 54 61
19683721 2010
5
Analysis of activin/TGFB-signaling modulators within the normal and dysfunctional adult human testis reveals evidence of altered signaling capacity in a subset of seminomas. 54 61
19661148 2009
6
The utility of microscopic findings and immunohistochemistry in the classification of necrotic testicular tumors: a study of 11 cases. 61 54
19461507 2009
7
Results of retroperitoneal lymph node dissection after chemotherapy in patients with pure seminoma in the orchidectomy specimen but elevated serum alpha-fetoprotein. 61 54
19493258 2009
8
Identification of ERbeta1 and ERbeta2 in human seminoma, in embryonal carcinoma and in their adjacent intratubular germ cell neoplasia. 54 61
19493328 2009
9
Yolk sac tumor but not seminoma or teratoma is associated with abnormal epigenetic reprogramming pathway and shows frequent hypermethylation of various tumor suppressor genes. 61 54
19245437 2009
10
Absence of gene mutations in KIT-positive thymic epithelial tumors. 54 61
18486988 2008
11
[Place of serum HCG assay in the follow-up of non-HCG-secreting testicular seminomas]. 54 61
18971108 2008
12
Free beta-subunit of human chorionic gonadotropin in serum is a diagnostically sensitive marker of seminomatous testicular cancer. 54 61
18787014 2008
13
Expression of connexin 43 in normal canine testes and canine testicular tumors. 54 61
18542985 2008
14
[Case report of malignant sertoli cell tumor]. 54 61
18697473 2008
15
Abnormal hCG levels in a patient with treated stage I seminoma: a diagnostic dilemma. 54 61
18578862 2008
16
Further characterization of the first seminoma cell line TCam-2. 54 61
18050305 2008
17
[Management of testicular seminoma with elevation of alpha fetoprotein. A case report]. 61 54
18472076 2008
18
A novel monoclonal antibody against DOG1 is a sensitive and specific marker for gastrointestinal stromal tumors. 54 61
18223323 2008
19
Trials of new germ cell immunohistochemical stains in 93 extragonadal and metastatic germ cell tumors. 54 61
18045648 2008
20
Somatic KIT mutations occur predominantly in seminoma germ cell tumors and are not predictive of bilateral disease: report of 220 tumors and review of literature. 54 61
17943970 2008
21
Aberrant expression and distribution of the OCT-4 transcription factor in seminomas. 54 61
17682839 2007
22
Histologically pure stage I seminoma with an elevated beta-hCG of 4497 IU/l. 61 54
18068467 2007
23
Complete response after treatment with imatinib in pretreated disseminated testicular seminoma with overexpression of c-KIT. 54 61
17976614 2007
24
c-KIT is frequently mutated in bilateral germ cell tumours and down-regulated during progression from intratubular germ cell neoplasia to seminoma. 54 61
17768701 2007
25
Diffuse membranous immunoreactivity for podoplanin (D2-40) distinguishes primary and metastatic seminomas from other germ cell tumors and metastatic neoplasms. 61 54
17951198 2007
26
KIT and RAS signalling pathways in testicular germ cell tumours: new data and a review of the literature. 61 54
17573850 2007
27
Classical and spermatocytic seminoma in the dog: histochemical and immunohistochemical findings. 61 54
17629966 2007
28
Kit expression in male germ cell tumors. 61 54
17595797 2007
29
DNMT1 and HDAC1 gene expression in impaired spermatogenesis and testicular cancer. 54 61
16960727 2007
30
OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. 54 61
17117392 2007
31
[CT diagnosis and pathological findings of testicular lesion]. 54 61
17259159 2007
32
[A case of seminoma with a low level positive of serum hCG (human chorionic gonadotropin) beta considered as false positive hCGbeta]. 61 54
17025215 2006
33
Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. 54 61
16741525 2006
34
Diagnostic value of markers M2A, OCT3/4, AP-2gamma, PLAP and c-KIT in the detection of extragonadal seminomas. 54 61
16918976 2006
35
Identity of M2A (D2-40) antigen and gp36 (Aggrus, T1A-2, podoplanin) in human developing testis, testicular carcinoma in situ and germ-cell tumours. 54 61
16736189 2006
36
Podoplanin expression in primary central nervous system germ cell tumors: a useful histological marker for the diagnosis of germinoma. 61 54
16718353 2006
37
Retroperitoneal seminoma in limited biopsies: morphologic criteria and immunohistochemical findings in 30 cases. 61 54
16723857 2006
38
Transition from preinvasive carcinoma in situ to seminoma is accompanied by a reduction of connexin 43 expression in Sertoli cells and germ cells. 61 54
16820096 2006
39
Rosai-Dorfman disease of the testis: an unusual entity that mimics testicular malignancy. 61 54
16505287 2006
40
Dasatinib (BMS-354825), a dual SRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies. 54 61
16397263 2006
41
Targeting the active site of the placental isozyme of alkaline phosphatase by phage-displayed scFv antibodies selected by a specific uncompetitive inhibitor. 61 54
16372914 2005
42
KIT (c-kit oncogene product) pathway is constitutively activated in human testicular germ cell tumors. 61 54
16188233 2005
43
Human embryonic stem cell genes OCT4, NANOG, STELLAR, and GDF3 are expressed in both seminoma and breast carcinoma. 54 61
16228988 2005
44
Immunohistochemical expression of calretinin in canine testicular tumours and normal canine testicular tissue. 54 61
15924929 2005
45
Amplification and overexpression of the KIT gene is associated with progression in the seminoma subtype of testicular germ cell tumors of adolescents and adults. 61 54
16166280 2005
46
KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. 61 54
16082245 2005
47
CD30 (Ki-1) molecule expression in human embryonal epithelial cells of the basal layer of the developing epidermis and epidermal buds and its potential significance for embryogenesis. 54 61
16200333 2005
48
Identification of two molecular groups of seminomas by using expression and tissue microarrays. 61 54
16115909 2005
49
Estrogen-induced growth inhibition of human seminoma cells expressing estrogen receptor beta and aromatase. 54 61
16087732 2005
50
Differential expression of IGF components and insulin receptor isoforms in human seminoma versus normal testicular tissue. 61 54
15967097 2005

Variations for Seminoma

Copy number variations for Seminoma from CNVD:

7 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 55928 11 56400000 134452384 Loss Seminomas
2 61576 12 1 56300000 Gain Seminomas
3 119165 18 1 15400000 Loss Seminomas
4 120979 18 35500000 76117153 Loss Seminomas
5 138723 2 169500000 182700000 Gain Seminomas
6 146936 2 56300000 182700000 Loss Seminomas
7 157118 21 12300000 46944323 Gain Seminomas
8 160299 22 11800000 49691432 Loss Seminomas
9 217037 7 1 158821424 Gain Seminomas
10 237233 8 2200000 146274826 Gain Seminomas
11 257126 X 1 24900000 Gain Seminomas
12 262546 X 37500000 154913754 Gain Seminomas
13 262571 X 37500000 47300000 Gain Seminomas

Expression for Seminoma

Search GEO for disease gene expression data for Seminoma.

Pathways for Seminoma

GO Terms for Seminoma

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.47 TNFRSF8 TCL1A RASSF1 POU5F1 PDPN KIT

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.35 INHA FGFR3 CGB7 CGB5 CGB3
2 hormone-mediated signaling pathway GO:0009755 9.33 CGB7 CGB5 CGB3
3 chondrocyte proliferation GO:0035988 9.26 MMP16 FGFR3
4 female gamete generation GO:0007292 8.8 CGB7 CGB5 CGB3

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

# Name GO ID Score Top Affiliating Genes
1 alkaline phosphatase activity GO:0004035 8.96 ALPP ALPG
2 hormone activity GO:0005179 8.92 INHA CGB7 CGB5 CGB3

Sources for Seminoma

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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