MCID: NNS011
MIFTS: 34

Nonseminomatous Germ Cell Tumor

Categories: Rare diseases

Aliases & Classifications for Nonseminomatous Germ Cell Tumor

MalaCards integrated aliases for Nonseminomatous Germ Cell Tumor:

Name: Nonseminomatous Germ Cell Tumor 53 73
Non-Seminomatous Germ-Cell Tumors 53
Nsgct 53

Classifications:



External Ids:

UMLS 73 C1266158

Summaries for Nonseminomatous Germ Cell Tumor

NIH Rare Diseases : 53 Nonseminomatous germ celltumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type). Possible early signs of this cancer include chest pain and breathing problems.

MalaCards based summary : Nonseminomatous Germ Cell Tumor, also known as non-seminomatous germ-cell tumors, is related to choriocarcinoma and testicular cancer. An important gene associated with Nonseminomatous Germ Cell Tumor is AFP (Alpha Fetoprotein), and among its related pathways/superpathways is Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs Lenograstim and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include testis, brain and pineal, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Nonseminomatous Germ Cell Tumor

Graphical network of the top 20 diseases related to Nonseminomatous Germ Cell Tumor:



Diseases related to Nonseminomatous Germ Cell Tumor

Symptoms & Phenotypes for Nonseminomatous Germ Cell Tumor

GenomeRNAi Phenotypes related to Nonseminomatous Germ Cell Tumor according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.26 CGB7 CGB5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.26 CGB7 CGB5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.26 CGB7 CGB5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.26 CGB7 CGB5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.26 CGB7 CGB5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.6 CGB5 CGB7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 ERBB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.6 ERBB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 ERBB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 ERBB2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.6 CGB7 CGB5 ERBB2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 CGB7 CGB5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 ERBB2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 ERBB2

Drugs & Therapeutics for Nonseminomatous Germ Cell Tumor

Drugs for Nonseminomatous Germ Cell Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 135968-09-1
2
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
3
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
4
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
5
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Phase 1 51-75-2 4033
6
Ifosfamide Approved Phase 3,Phase 2,Phase 1 3778-73-2 3690
7
Mesna Approved, Investigational Phase 3,Phase 1,Phase 2 3375-50-6 598
8
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
9
Oxaliplatin Approved, Investigational Phase 3,Phase 2 61825-94-3 5310940 9887054 43805 6857599
10
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
11
Bleomycin Approved, Investigational Phase 3,Phase 2 11056-06-7 5360373
12
Diphenhydramine Approved, Investigational Phase 3 147-24-0, 58-73-1 3100
13
Promethazine Approved, Investigational Phase 3 60-87-7 4927
14
Vinblastine Approved Phase 3 865-21-4 13342 241903
15
Cyproheptadine Approved Phase 3 129-03-3 2913
16
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
17 Dexamethasone acetate Phase 3,Phase 2,Phase 1 1177-87-3
18
Isophosphamide mustard Phase 3,Phase 2,Phase 1 0
19 Alkylating Agents Phase 3,Phase 2,Phase 1
20 Adjuvants, Immunologic Phase 3,Phase 1,Phase 2
21 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
22 Gastrointestinal Agents Phase 3,Phase 2
23 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
24 Anti-Bacterial Agents Phase 3,Phase 2
25 Antibiotics, Antitubercular Phase 3,Phase 2
26 Etoposide phosphate Phase 3,Phase 2
27 BB 1101 Phase 3,Phase 2,Phase 1
28 Antimitotic Agents Phase 3,Phase 2,Phase 1
29 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
30 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
31 Histamine H2 Antagonists Phase 3
32
Histamine Phosphate Phase 3 51-74-1 65513
33 Serotonin Agents Phase 3
34 Serotonin Antagonists Phase 3
35 Neurotransmitter Agents Phase 3
36 Histamine Antagonists Phase 3
37 Histamine H1 Antagonists Phase 3
38 Dermatologic Agents Phase 3
39 Anti-Allergic Agents Phase 3
40 Antipruritics Phase 3
41
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
42
Gemcitabine Approved Phase 2,Phase 1 95058-81-4 60750
43
Furosemide Approved, Vet_approved Phase 1, Phase 2 54-31-9 3440
44
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 453 6251
45
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
46
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
47
Ranitidine Approved Phase 1, Phase 2 66357-59-3, 66357-35-5 3001055
48
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
49
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
50
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 1, Phase 2 7487-88-9 24083

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy in Treating Patients With Stage II or Stage III Germ Cell Tumors Unknown status NCT00104676 Phase 3 cisplatin;etoposide;ifosfamide;oxaliplatin;paclitaxel
2 Combination Chemotherapy in Treating Men With Germ Cell Cancer Unknown status NCT00003643 Phase 2, Phase 3 cisplatin;etoposide;paclitaxel
3 Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients With Relapsed or Refractory Germ Cell Tumors Recruiting NCT02375204 Phase 3 paclitaxel;ifosfamide;cisplatin;pegylated G-CSF;G-CSF;carboplatin;etoposide phosphate
4 Trial of 1 Cycle of Adjuvant BEP Chemotherapy in High Risk, Stage 1 Non-seminomatous Germ Cell Testis Tumours Active, not recruiting NCT01726374 Phase 3 BEP(500)
5 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
6 Cisplatin and Ifosfamide Combined With Either Paclitaxel or Vinblastine in Treating Men With Progressive or Recurrent Metastatic Germ Cell Tumors Terminated NCT00072215 Phase 3 cisplatin;ifosfamide;paclitaxel;vinblastine
7 Trial of Gemcitabine, Cisplatin, and Ifosfamide in Patients With Relapsed Non-Seminomatous Germ-Cell Tumors Unknown status NCT00127049 Phase 2 gemcitabine, ifosfamide, cisplatin, G-CSF
8 Reduced Dose Radiotherapy Following High Dose Chemotherapy in Intracranial Non-germinomatous Germ Cell Tumor Unknown status NCT02784054 Phase 2 Carboplatin;Etoposide;Cyclophosphamide;Bleomycin;Thiotepa;Melphalan
9 PHASE II TRIAL OF THE CYCLIN-DEPEDENT KINASE INHIBITOR PD 0332991 IN PATIENTS WITH CANCER Unknown status NCT01037790 Phase 2 PD-0332991
10 High-Dose Chemotherapy and Stem Cell Transplant in Treating Patients With Metastatic Germ Cell Tumors That Have Not Responded to First-Line Therapy Unknown status NCT01172912 Phase 2 carboplatin;cisplatin;dexamethasone;etoposide;ifosfamide
11 Gemcitabine, Paclitaxel, Ifosfamide, and Cisplatin in Treating Patients With Progressive or Relapsed Metastatic Germ Cell Tumors Unknown status NCT00551122 Phase 1, Phase 2 cisplatin;gemcitabine hydrochloride;ifosfamide;paclitaxel
12 High-dose Chemotherapy With Autologous Stem Cell Rescue in Pediatric High-risk Brain Tumors Completed NCT00798811 Phase 2
13 Alvocidib and Oxaliplatin With or Without Fluorouracil and Leucovorin Calcium in Treating Patients With Relapsed or Refractory Germ Cell Tumors Completed NCT00957905 Phase 2 Alvocidib Hydrochloride;Fluorouracil;Leucovorin Calcium;Oxaliplatin
14 Combination Chemotherapy in Treating Male Patients With Germ Cell Tumors Completed NCT00301782 Phase 2 carboplatin;cisplatin;etoposide phosphate;vincristine sulfate
15 Combination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors Completed NCT00470366 Phase 2 cisplatin;ifosfamide;paclitaxel
16 Paclitaxel, Ifosfamide, and Carboplatin Followed By Autologous Stem Cell Transplant in Treating Patients With Germ Cell Tumors That Did Not Respond to Cisplatin Completed NCT00423852 Phase 1, Phase 2 carboplatin;ifosfamide;paclitaxel
17 Sunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment Completed NCT00453310 Phase 2 sunitinib malate
18 Combination Chemotherapy and Pegfilgrastim in Treating Men With Metastatic Germ Cell Tumors Completed NCT00453232 Phase 2 cisplatin;etoposide
19 Ixabepilone in Treating Patients With Advanced Cisplatin-Refractory Germ Cell Tumors Completed NCT00070096 Phase 2 ixabepilone
20 Combination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Relapsed Germ Cell Cancer Completed NCT00002931 Phase 2 carboplatin;etoposide;ifosfamide;paclitaxel
21 A Prospective Study of Cabazitaxel in Patients With Non Seminomatous Germ-cell Tumors Recruiting NCT02115165 Phase 2 Cabazitaxel
22 First Line TIP in Poor Prognosis TGCTs. Recruiting NCT02414685 Phase 2 Paclitaxel;Ifosfamide;Cisplatin
23 Brentuximab Vedotin in Relapsed/Refractory Germ Cell Tumors Recruiting NCT02689219 Phase 2 Brentuximab Vedotin
24 Contribution of the Imaging to the Expression of intégrines αvβ3 for the Characterization of Residual Masses of Non-seminoma Tumors at the End of Chemotherapy Recruiting NCT02317393 Phase 2
25 Efficacy and Safety of the Combination Therapy of Dabrafenib and Trametinib in Subjects With BRAF V600E- Mutated Rare Cancers Recruiting NCT02034110 Phase 2 Dabrafenib;Trametinib
26 Evaluating Immune Therapy, Duravalumab (MEDI4736) With Tremelimumab for Relapsed/Refractory Germ Cell Tumors Recruiting NCT03158064 Phase 2 Durvalumab;Tremelimumab
27 Autologous Peripheral Blood Stem Cell Transplant for Germ Cell Tumors Recruiting NCT00432094 Phase 2 carboplatin;etoposide;ifosfamide;paclitaxel;thiotepa;Mesna
28 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
29 Chemotherapy Followed by Radiation Therapy in Treating Younger Patients With Newly Diagnosed Localized Central Nervous System Germ Cell Tumors Suspended NCT01602666 Phase 2 Carboplatin;Etoposide;Ifosfamide
30 Pembrolizumab in Subjects With Incurable Platinum-Refractory Germ Cell Tumors Terminated NCT02499952 Phase 2 Pembrolizumab
31 Palifosfamide in Treating Patients With Recurrent Germ Cell Tumors Terminated NCT01808534 Phase 2 palifosfamide
32 Lapatinib and Paclitaxel in Treating Patients With Advanced Solid Tumors Completed NCT00313599 Phase 1 lapatinib;paclitaxel
33 Busulfan, Melphalan, Topotecan Hydrochloride, and a Stem Cell Transplant in Treating Patients With Newly Diagnosed or Relapsed Solid Tumor Active, not recruiting NCT00638898 Phase 1 busulfan;melphalan;topotecan hydrochloride
34 Follow-up Evaluation Using CT Scans in Patients Who Have Been Treated For Metastatic Testicular Cancer Unknown status NCT00553371
35 Diagnostic Study of Patients With Stage I Testicular Cancer Completed NCT00003800 Not Applicable
36 Positron Emission Tomography in Detecting Testicle Cancer Completed NCT00045045 Not Applicable
37 Swiss Austrian German Testicular Cancer Cohort Study - SAG TCCS Recruiting NCT02229916
38 Proton Beam Radiation Therapy for Central Nervous System (CNS) Germ Cell Tumors Active, not recruiting NCT01049230 Not Applicable

Search NIH Clinical Center for Nonseminomatous Germ Cell Tumor

Genetic Tests for Nonseminomatous Germ Cell Tumor

Anatomical Context for Nonseminomatous Germ Cell Tumor

MalaCards organs/tissues related to Nonseminomatous Germ Cell Tumor:

41
Testis, Brain, Pineal, Lymph Node, Bone, Testes, Prostate

Publications for Nonseminomatous Germ Cell Tumor

Articles related to Nonseminomatous Germ Cell Tumor:

(show top 50) (show all 155)
# Title Authors Year
1
Histologic and Oncologic Outcomes Following Liver Mass Resection With Retroperitoneal Lymph Node Dissection in Patients With Nonseminomatous Germ Cell Tumor. ( 29704586 )
2018
2
The Use of Modified Templates in Early and Advanced Stage Nonseminomatous Germ Cell Tumor. ( 29849605 )
2018
3
Pericardial effusion as an atypical initial presentation of extra-gonadal nonseminomatous germ cell tumor: a case report and literature review. ( 29492268 )
2018
4
Dose-reduced first cycle of chemotherapy for prevention of life-threatening acute complications in nonseminomatous germ cell tumor patients with ultra high tumor markers and/or poor performance status. ( 29974210 )
2018
5
Durable Response to Immune Checkpoint Blockade in a Platinum-Refractory Patient With Nonseminomatous Germ Cell Tumor. ( 28465048 )
2017
6
Laparoscopic Postchemotherapy Retroperitoneal Lymph-Node Dissection Can Be a Standard Option in Defined Nonseminomatous Germ Cell Tumor Patients. ( 27533924 )
2016
7
Intratumoral heterogeneity and chemoresistance in nonseminomatous germ cell tumor of the testis. ( 27861143 )
2016
8
Defining a New Prognostic Index for Stage I Nonseminomatous Germ Cell Tumors Using CXCL12 Expression and Proportion of Embryonal Carcinoma. ( 26453693 )
2016
9
High-Dose Chemotherapy in a Late Relapse, Platinum-Refractory Nonseminomatous Germ Cell Tumor. ( 27055370 )
2016
10
Perioperative Morbidity and Mortality Associated With Bleomycin in Primary Mediastinal Nonseminomatous Germ Cell Tumor. ( 27621392 )
2016
11
Prognostic factors and efficacy of different chemotherapeutic regimens in patients with mediastinal nonseminomatous germ cell tumors. ( 24337455 )
2014
12
Anatomical retroperitoneoscopic retroperitoneal lymph node dissection for clinical stage I nonseminomatous germ cell tumors: Initial operative experience. ( 24369147 )
2014
13
Long term outcome of patients with clinical stage I high-risk nonseminomatous germ cell tumors 15 years after one adjuvant cycle of Bleomycin, Etoposide and Cisplatin chemotherapy. ( 25392157 )
2014
14
Growing Teratoma Syndrome After Treatment of a Nonseminomatous Germ Cell Tumor: A Case Report and a Review of Literature. ( 26952048 )
2014
15
Primary nonseminomatous germ cell tumor in the posterior mediastinum. ( 25473562 )
2014
16
Post-chemotherapy laparoscopic retroperitoneal lymph node dissection for nonseminomatous germ cell tumors infiltrating the great vessels. ( 24422683 )
2014
17
Postchemotherapy laparoscopic retroperitoneal lymph node dissection for low-volume, stage II, nonseminomatous germ cell tumor: first 100 patients. ( 23021090 )
2013
18
Bilateral laparoscopic postchemotherapy retroperitoneal lymph-node dissection in nonseminomatous germ cell tumors--a comparison to template dissection. ( 23516988 )
2013
19
Late recurrence of nonseminomatous germ cell tumor successfully treated with intensity-modulated radiation therapy. ( 23868903 )
2013
20
Testicular hilum and vascular invasion predict advanced clinical stage in nonseminomatous germ cell tumors. ( 23238629 )
2013
21
Treatment outcome of patients with extragonadal nonseminomatous germ cell tumors: the Saitama Cancer Center experience. ( 22763659 )
2013
22
Re: genomic characterization of testis cancer: association of alterations with outcome of clinical stage 1 mixed germ cell nonseminomatous germ cell tumor of the testis. ( 23845335 )
2013
23
Salvage therapy with high-dose chemotherapy and peripheral blood stem cell transplant in patients with primary mediastinal nonseminomatous germ cell tumors. ( 22892555 )
2013
24
Nonseminomatous germ cell tumor of testis and interrupted treatment. ( 24133836 )
2013
25
Risk factors for relapse in patients with clinical stage I testicular nonseminomatous germ cell tumors. ( 23400963 )
2013
26
Correlation between retroperitoneal lymph node size and presence of metastases in nonseminomatous germ cell tumors. ( 22180527 )
2012
27
Extraperitoneal laparoscopic retroperitoneal lymph node dissection for early-stage testicular nonseminomatous germ cell tumors: initial experience. ( 22524310 )
2012
28
Laparoscopic retroperitoneal lymph node dissection for clinical stage I nonseminomatous germ cell tumor: a large single institution experience. ( 22177913 )
2012
29
The &amp;quot;growing teratoma syndrome&amp;quot; in primary mediastinal nonseminomatous germ cell tumors: criteria based on current practice. ( 22713299 )
2012
30
Genomic characterization of testis cancer: association of alterations with outcome of clinical stage 1 mixed germ cell nonseminomatous germ cell tumor of the testis. ( 22503760 )
2012
31
What is the role of enlarged lymph node resection alone in patients with nonseminomatous germ cell tumor who had stage II or III disease? ( 22682983 )
2012
32
Paclitaxel+BEP (T-BEP) regimen as induction chemotherapy in poor prognosis patients with nonseminomatous germ cell tumors: a phase II study. ( 21764427 )
2011
33
Report of the long-term efficacy of two cycles of adjuvant bleomycin/etoposide/cisplatin in patients with stage I testicular nonseminomatous germ-cell tumors (NSGCT): a risk adapted protocol of the Hellenic Cooperative Oncology Group. ( 19362863 )
2011
34
Gynecomastia as a first clinical sign of nonseminomatous germ cell tumor. ( 21625076 )
2011
35
Words of wisdom. Re: management of disseminated nonseminomatous germ cell tumors with risk-based chemotherapy followed by response-guided postchemotherapy surgery. ( 21524725 )
2011
36
Secondary malignancies among nonseminomatous germ cell tumor cancer survivors. ( 21412759 )
2011
37
Management of low-stage nonseminomatous germ cell tumors of testis: SIU/ICUD Consensus Meeting on Germ Cell Tumors (GCT), Shanghai 2009. ( 21986224 )
2011
38
Management of residual mass in nonseminomatous germ cell tumors following chemotherapy. ( 21969846 )
2011
39
Population-based study of treatment guided by tumor marker decline in patients with metastatic nonseminomatous germ cell tumor: a report from the Swedish-Norwegian Testicular Cancer Group. ( 21482994 )
2011
40
Stage I nonseminomatous germ cell tumor of the testis: more questions than answers? ( 21570606 )
2011
41
Postchemotherapy residual masses in nonseminomatous germ cell tumor patients: 18F-FLT PET is unlikely to identify mature teratoma, but imaging of alphav beta3 integrin expression could. ( 21536932 )
2011
42
Non-risk-adapted surveillance in clinical stage I nonseminomatous germ cell tumors: the Princess Margaret Hospital's experience. ( 21190791 )
2011
43
Trends of retroperitoneal lymphadenectomy use in patients with nonseminomatous germ cell tumor of the testis: a population-based study. ( 21509630 )
2011
44
Paclitaxel plus ifosfamide followed by high-dose carboplatin plus etoposide for patients with relapsed primary mediastinal nonseminomatous germ cell tumors: benefit from chemotherapy, surgery, or both? ( 21060034 )
2010
45
Laparoscopic retroperitoneal lymph node dissection with therapeutic intent in men with clinical stage I nonseminomatous germ cell tumors. ( 20879859 )
2010
46
Outcome following resection for patients with primary mediastinal nonseminomatous germ-cell tumors and rising serum tumor markers post-chemotherapy. ( 19889611 )
2010
47
Management of disseminated nonseminomatous germ cell tumors with risk-based chemotherapy followed by response-guided postchemotherapy surgery. ( 20026807 )
2010
48
Influence of suboptimal treatment in patients with mediastinal primary nonseminomatous germ cell tumors. ( 20185939 )
2010
49
Long-term follow-up of Cisplatin combination chemotherapy in patients with disseminated nonseminomatous germ cell tumors: is a postchemotherapy retroperitoneal lymph node dissection needed after complete remission? ( 20026808 )
2010
50
Nonseminomatous germ cell tumor of the testes metastatic to the corpus cavernosum of the penis. ( 19931126 )
2010

Variations for Nonseminomatous Germ Cell Tumor

Expression for Nonseminomatous Germ Cell Tumor

Search GEO for disease gene expression data for Nonseminomatous Germ Cell Tumor.

Pathways for Nonseminomatous Germ Cell Tumor

GO Terms for Nonseminomatous Germ Cell Tumor

Biological processes related to Nonseminomatous Germ Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 8.96 CGB5 CGB7
2 female gamete generation GO:0007292 8.62 CGB5 CGB7

Sources for Nonseminomatous Germ Cell Tumor

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19 FMA
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
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