MCID: SXC001
MIFTS: 47

Sex Cord-Gonadal Stromal Tumor

Categories: Cancer diseases, Rare diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Sex Cord-Gonadal Stromal Tumor

MalaCards integrated aliases for Sex Cord-Gonadal Stromal Tumor:

Name: Sex Cord-Gonadal Stromal Tumor 12 15
Sex Cord-Stromal Tumor 12 55 6 73
Malignant Testicular Sex Cord-Stromal Tumor 12 73
Sex Cord-Stromal Tumor of Testis 12 59
Sex Cord-Stromal Neoplasm 12 15
Sex Cord-Stromal Tumor, No Icd-O Subtype 12
Testicular Sex Cord-Stromal Tumor 59
Sex Cord Stromal Tumor of Testis 73
Sex Cord-Gonadal Stromal Tumors 44
Specialized Gonadal Neoplasm 12
Specialized Gonadal Tumor 12
Sex Cord Stromal Tumour 12

Characteristics:

Orphanet epidemiological data:

59
sex cord-stromal tumor of testis
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe);

Classifications:

Orphanet: 59  
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:192 DOID:4757
MeSH 44 D018312
Orphanet 59 ORPHA363489
ICD10 via Orphanet 34 C62.1

Summaries for Sex Cord-Gonadal Stromal Tumor

Disease Ontology : 12 A reproductive organ cancer that is located in the sex cord-derived tissues of the ovary and testis.

MalaCards based summary : Sex Cord-Gonadal Stromal Tumor, also known as sex cord-stromal tumor, is related to granulosa cell tumor of the ovary and sertoli cell tumor. An important gene associated with Sex Cord-Gonadal Stromal Tumor is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways is Ovarian Infertility Genes. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include the sex cord-derived tissues of the ovary, testis and ovary, and related phenotypes are homeostasis/metabolism and behavior/neurological

Related Diseases for Sex Cord-Gonadal Stromal Tumor

Diseases related to Sex Cord-Gonadal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 granulosa cell tumor of the ovary 30.0 ENO2 FOXL2 INHA KRT7 SYP
2 sertoli cell tumor 29.7 CALB2 INHA NR5A1 SYP WT1
3 mixed germ cell-sex cord neoplasm 11.8
4 ovarian sex cord tumor with annular tubules 11.3
5 ovarian fibroma 11.2
6 46,xy partial gonadal dysgenesis 10.9 NR5A1 WT1
7 fallopian tube carcinosarcoma 10.9 CALB2 WT1
8 renal adenoma 10.9 KRT7 WT1
9 epithelial predominant wilms' tumor 10.9 KRT7 WT1
10 metanephric adenoma 10.8 KRT7 WT1
11 mucinous bronchioloalveolar adenocarcinoma 10.8 CALB2 KRT7
12 malignant leydig cell tumor 10.8 CALB2 KRT7
13 ovarian serous cystadenofibroma 10.8 CALB2 INHA
14 epithelioid trophoblastic tumor 10.8 INHA KRT7
15 spindle cell liposarcoma 10.8 CALB2 WT1
16 cribriform carcinoma 10.8 KRT7 PGR
17 oncocytic breast carcinoma 10.8 KRT7 PGR
18 malignant mixed mullerian tumor 10.7 KRT7 PGR
19 benign metastasizing leiomyoma 10.7 KRT7 PGR
20 adenofibroma 10.7 CALB2 INHA
21 appendix cancer 10.7 GNAS KRT7
22 adenoid basal cell carcinoma 10.7 KRT7 PGR
23 apocrine adenocarcinoma 10.7 KRT7 PGR
24 corneal abscess 10.7 KRT7 PGR
25 kidney sarcoma 10.7 DICER1 WT1
26 papillary serous adenocarcinoma 10.7 KRT7 PGR
27 pneumatosis cystoides intestinalis 10.7 CALB2 WT1
28 clear cell adenofibroma 10.7 CALB2 KRT7
29 urethral diverticulum 10.6 KRT7 WT1
30 peritoneal serous adenocarcinoma 10.6 SYP WT1
31 intrahepatic bile duct adenoma 10.6 AFP KRT7
32 ovary neuroendocrine neoplasm 10.6 KRT7 SYP
33 ovarian large-cell neuroendocrine carcinoma 10.6 KRT7 SYP
34 mucinous adenofibroma 10.6 KRT7 SYP
35 ovarian small cell carcinoma 10.6 SYP WT1
36 renal pelvis adenocarcinoma 10.6 AFP KRT7
37 ovarian germ cell cancer 10.6 AFP KRT7
38 maligant granulosa cell tumor of the ovary 10.6 DICER1 FOXL2
39 dermoid cyst 10.6 KRT7 PGR
40 intratubular embryonal carcinoma 10.6 AFP KRT7
41 kidney benign neoplasm 10.5 DICER1 KRT7
42 benign mesothelioma 10.5 CALB2 KRT7 WT1
43 ovarian brenner tumor 10.5 CALB2 KRT7 WT1
44 mixed hepatoblastoma 10.5 AFP PGR
45 mesothelioma, malignant 10.5 CALB2 KRT7 WT1
46 medulloepithelioma 10.5 KRT7 SYP
47 choriocarcinoma of the testis 10.5 AFP KRT7
48 pulmonary sclerosing hemangioma 10.5 KRT7 SYP
49 endosalpingiosis 10.5 KRT7 PGR WT1
50 female reproductive endometrioid cancer 10.5 KRT7 PGR WT1

Graphical network of the top 20 diseases related to Sex Cord-Gonadal Stromal Tumor:



Diseases related to Sex Cord-Gonadal Stromal Tumor

Symptoms & Phenotypes for Sex Cord-Gonadal Stromal Tumor

MGI Mouse Phenotypes related to Sex Cord-Gonadal Stromal Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 DICER1 PGR FOXL2 WT1 GNAS AFP
2 behavior/neurological MP:0005386 10.01 NR5A1 DICER1 ENO2 PGR SYP GNAS
3 endocrine/exocrine gland MP:0005379 9.97 DICER1 PGR FOXL2 WT1 GNAS AFP
4 neoplasm MP:0002006 9.73 DICER1 PGR WT1 GNAS AFP INHA
5 no phenotypic analysis MP:0003012 9.63 DICER1 PGR FOXL2 WT1 GNAS ANO6
6 normal MP:0002873 9.61 PGR FOXL2 SYP WT1 GNAS INHA
7 reproductive system MP:0005389 9.17 DICER1 PGR FOXL2 WT1 AFP INHA

Drugs & Therapeutics for Sex Cord-Gonadal Stromal Tumor

Drugs for Sex Cord-Gonadal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
2
Paclitaxel Approved, Vet_approved Phase 3,Phase 2 33069-62-4 36314
3
Bleomycin Approved, Investigational Phase 3,Phase 2 11056-06-7 5360373
4
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6 Albumin-Bound Paclitaxel Phase 3,Phase 2
7 Antimitotic Agents Phase 3,Phase 2
8 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
9 Anti-Bacterial Agents Phase 3,Phase 2
10 Antibiotics, Antitubercular Phase 3,Phase 2
11 Etoposide phosphate Phase 3,Phase 2
12 Topoisomerase Inhibitors Phase 3,Phase 2
13
Bevacizumab Approved, Investigational Phase 2 216974-75-3
14
nivolumab Approved Phase 2 946414-94-4
15
Ketoconazole Approved, Investigational Phase 2 65277-42-1 47576 3823
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17 Angiogenesis Inhibitors Phase 2
18 Angiogenesis Modulating Agents Phase 2
19 Antibodies Phase 2
20 Antibodies, Monoclonal Phase 2
21 Endothelial Growth Factors Phase 2
22 Immunoglobulin G Phase 2
23 Immunoglobulins Phase 2
24 Mitogens Phase 2
25 Anti-Infective Agents Phase 2,Phase 1
26 Antifungal Agents Phase 2
27 Cytochrome P-450 CYP3A Inhibitors Phase 2
28 Cytochrome P-450 Enzyme Inhibitors Phase 2
29 Hormone Antagonists Phase 2
30 Hormones Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
32 Steroid Synthesis Inhibitors Phase 2
33
Gemcitabine Approved Phase 1 95058-81-4 60750
34 Antimetabolites Phase 1
35 Antimetabolites, Antineoplastic Phase 1
36 Antiviral Agents Phase 1
37 Immunosuppressive Agents Phase 1
38
Dobutamine Approved Not Applicable 34368-04-2 36811
39
Menthol Approved Not Applicable 2216-51-5 16666
40
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
41
Dactinomycin Approved, Investigational 50-76-0 2019 457193
42
Doxorubicin Approved, Investigational 23214-92-8 31703
43
Ifosfamide Approved 3778-73-2 3690
44
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
45
Doxil Approved June 1999 31703
46
Isophosphamide mustard 0

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 TC or BEP in Treating Patients With Ovarian Malignant Sex Cord-Stromal Tumors Enrolling by invitation NCT02429700 Phase 3 Paclitaxel;Carboplatin;Bleomycin;Etoposide;Cisplatin
2 Bevacizumab in Treating Patients With Recurrent Sex Cord-Stromal Tumors of the Ovary Completed NCT00748657 Phase 2
3 Paclitaxel in Treating Patients With Ovarian Stromal Cancer Completed NCT00006227 Phase 2 Paclitaxel
4 Paclitaxel and Carboplatin or Bleomycin Sulfate, Etoposide Phosphate, and Cisplatin in Treating Patients With Advanced or Recurrent Sex Cord-Ovarian Stromal Tumors Recruiting NCT01042522 Phase 2 Carboplatin;Cisplatin;Etoposide Phosphate;Paclitaxel
5 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
6 Efficacy and Safety of Bevacizumab (Avastin®) Combined to Weekly Paclitaxel Followed by Bevacizumab (Avastin®) Alone in Patients With Relapsed Ovarian Sex-cord Stromal Tumours (ALIENOR) Active, not recruiting NCT01770301 Phase 2 Paclitaxel;Bevacizumab
7 Ketoconazole as Inhibitor of the Enzyme CYP17 in Locally Advanced or Disseminated Granulosa Cell Tumour of Ovary Terminated NCT01584297 Phase 2 Ketoconazole
8 Carboplatin, Gemcitabine Hydrochloride, and Stereotactic Body Radiation Therapy in Gynecological Cancer Completed NCT01652794 Phase 1 carboplatin;gemcitabine hydrochloride
9 Studying Genes in Samples From Younger Patients With Ovarian or Testicular Sex Cord Stromal Tumors Completed NCT01572467
10 Stress Reduction in Improving Quality of Life in Patients With Recurrent Gynecologic or Breast Cancer Completed NCT01764789 Not Applicable
11 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
12 Living After a Rare Cancer of the Ovary: Chronic Fatigue, Quality of Life and Late Effects of Chemotherapy Recruiting NCT03418844 Not Applicable
13 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
14 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
15 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903

Search NIH Clinical Center for Sex Cord-Gonadal Stromal Tumor

Cochrane evidence based reviews: sex cord-gonadal stromal tumors

Genetic Tests for Sex Cord-Gonadal Stromal Tumor

Anatomical Context for Sex Cord-Gonadal Stromal Tumor

The Foundational Model of Anatomy Ontology organs/tissues related to Sex Cord-Gonadal Stromal Tumor:

19
The Sex Cord-Derived Tissues Of The Ovary

MalaCards organs/tissues related to Sex Cord-Gonadal Stromal Tumor:

41
Testis, Ovary, Endothelial, Lymph Node, Cervix

Publications for Sex Cord-Gonadal Stromal Tumor

Articles related to Sex Cord-Gonadal Stromal Tumor:

(show top 50) (show all 78)
# Title Authors Year
1
Prevalence of lymph node metastasis and prognostic significance of lymphadenectomy in apparent early-stage malignant ovarian sex cord-stromal tumors. ( 28292524 )
2017
2
FOXL2 Mutation Analysis of Ovarian Sex Cord-Stromal Tumors: Genotype-Phenotype Correlation With Diagnostic Considerations. ( 28700438 )
2017
3
Correlation of FOXL2 with Inhibin and Calretinin in the Diagnosis of Ovarian Sex Cord Stromal Tumors. ( 28272677 )
2017
4
Safety of Fertility-Sparing Surgery for Premenopausal Women With Sex Cord-Stromal Tumors Confined to the Ovary. ( 28930803 )
2017
5
Genetics and genomics of ovarian sex cord-stromal tumors. ( 27813081 )
2017
6
Co-occurrence of a metastatic mammary liposarcoma and an ovarian sex-cord stromal tumor in a dog. ( 27892865 )
2016
7
A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors. ( 26428316 )
2015
8
Nuclear Localization of I^-Catenin in Sertoli Cell Tumors and Other Sex Cord-Stromal Tumors of the Testis: An Immunohistochemical Study of 87 Cases. ( 26034868 )
2015
9
Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor. ( 25604140 )
2015
10
Ovarian sex cord-stromal tumors in patients with probable or confirmed germline DICER1 mutations. ( 25844550 )
2015
11
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. ( 24755370 )
2014
12
Metastatic ovarian sex-cord stromal tumor with annular tubules in a patient without Peutz-Jeghers syndrome. ( 24932834 )
2014
13
Impact of a second opinion using expression and molecular analysis of FOXL2 for sex cord-stromal tumors. A study of the GINECO group &amp;amp; the TMRO network. ( 24157616 )
2014
14
Minimal deviation adenocarcinoma of the cervix and tumorlets of sex-cord stromal tumor with annular tubules of the ovary in Peutz-Jeghers syndrome. ( 23346318 )
2013
15
Estrogen-producing endometrioid adenocarcinoma resembling sex cord-stromal tumor of the ovary: a review of four postmenopausal cases. ( 23190574 )
2012
16
Sclerosing Sertoli cell tumor without expression of typical sex cord stromal tumor markers: case report and literature review. ( 22226390 )
2012
17
Precocious puberty secondary to a mixed germ cell-sex cord-stromal tumor associated with an ovarian yolk sac tumor: a case report. ( 22734844 )
2012
18
GATA-4 and FOG-2 expression in pediatric ovarian sex cord-stromal tumors replicates embryonal gonadal phenotype: results from the TREP project. ( 23029311 )
2012
19
Mutational analysis (c.402C&amp;gt;G) of the FOXL2 gene and immunohistochemical expression of the FOXL2 protein in testicular adult type granulosa cell tumors and incompletely differentiated sex cord stromal tumors. ( 21293260 )
2011
20
FOXL2 is a sensitive and specific marker for sex cord-stromal tumors of the ovary. ( 21378549 )
2011
21
Steroidogenic acute regulatory protein is a useful marker for Leydig cells and sex-cord stromal tumors. ( 21217523 )
2011
22
Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. ( 21501861 )
2011
23
Hepatoid carcinoma of the ovary with sex cord stromal tumor: a previously unrecognized association. ( 19856182 )
2010
24
A case report of an uncommon sex-cord stromal tumor consisted of luteal and sertoli cells in a spayed bitch. ( 19940389 )
2010
25
Global expression profiling of sex cord stromal tumors from Men1 heterozygous mice identifies altered TGF-beta signaling, decreased Gata6 and increased Csf1r expression. ( 19058182 )
2009
26
Sex cord-gonadal stromal tumor of the rete testis. ( 19125206 )
2009
27
Patterns of metastasis in sex cord-stromal tumors of the ovary: can routine staging lymphadenectomy be omitted? ( 19162310 )
2009
28
Identification of the most sensitive and robust immunohistochemical markers in different categories of ovarian sex cord-stromal tumors. ( 19033865 )
2009
29
Expression of adrenomedullin in human ovaries, ovarian sex cord-stromal tumors and cultured granulosa-luteal cells. ( 19253104 )
2009
30
[Diagnostic value of immunohistochemistry in ovarian sex cord-stromal tumors]. ( 19472783 )
2008
31
Biphasic malignant testicular sex cord-stromal tumor in a cotton-top tamarin (Saguinus oedipus) with review of the literature. ( 18984797 )
2008
32
SF-1 is a diagnostically useful immunohistochemical marker and comparable to other sex cord-stromal tumor markers for the differential diagnosis of ovarian sertoli cell tumor. ( 18753972 )
2008
33
Histologic and immunohistochemical characterization of a testicular mixed germ cell sex cord-stromal tumor and a leydig cell tumor in a dog. ( 18039910 )
2007
34
CD56 is a sensitive and diagnostically useful immunohistochemical marker of ovarian sex cord-stromal tumors. ( 17581419 )
2007
35
CD10 expression in pure stromal and sex cord-stromal tumors of the ovary: an immunohistochemical analysis of 101 cases. ( 17885484 )
2007
36
Prognostic factors responsible for survival in sex cord stromal tumors of the ovary--an analysis of 376 women. ( 17030354 )
2007
37
Incompletely differentiated (unclassified) sex cord/gonadal stromal tumor of the testis with a &amp;quot;pure&amp;quot; spindle cell component: report of a case with diagnostic and histogenetic considerations. ( 17850986 )
2007
38
Pediatric sex cord-stromal tumor with composite morphology: a case report. ( 16222477 )
2005
39
Ovarian sex cord-stromal tumor, unclassified: case report of endocrinologic findings and review of the literature. ( 16343200 )
2005
40
Ovarian sex cord-stromal tumors in children and adolescents. ( 16050568 )
2005
41
Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems. ( 15502809 )
2005
42
Comparative immunohistochemical analysis of granulosa and sertoli components in ovarian sex cord-stromal tumors with mixed differentiation: potential implications for derivation of sertoli differentiation in ovarian tumors. ( 15084844 )
2004
43
The STK11/LKB1 Peutz-Jegher gene is not involved in the pathogenesis of sporadic sex cord-stromal tumors, although loss of heterozygosity at 19p13.3 indicates other gene alteration in these tumors. ( 15343512 )
2004
44
Inhibin immunohistochemical staining: a practical approach for the surgical pathologist in the diagnoses of ovarian sex cord-stromal tumors. ( 12502966 )
2003
45
Ovarian sex cord-stromal tumors: an immunohistochemical study including a comparison of calretinin and inhibin. ( 12808064 )
2003
46
Expression of betaglycan, an inhibin coreceptor, in normal human ovaries and ovarian sex cord-stromal tumors and its regulation in cultured human granulosa-luteal cells. ( 14557487 )
2003
47
Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome. ( 11982910 )
2002
48
Utility of immunostaining for S-100 protein subunits in gonadal sex cord-stromal tumors, with emphasis on the large-cell calcifying Sertoli cell tumor of the testis. ( 11979368 )
2002
49
Telomerase activity in sex cord-stromal tumors of the ovary. ( 11531276 )
2001
50
Expression of calretinin in human ovary, testis, and ovarian sex cord-stromal tumors. ( 11603218 )
2001

Variations for Sex Cord-Gonadal Stromal Tumor

ClinVar genetic disease variations for Sex Cord-Gonadal Stromal Tumor:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
3 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366

Expression for Sex Cord-Gonadal Stromal Tumor

Search GEO for disease gene expression data for Sex Cord-Gonadal Stromal Tumor.

Pathways for Sex Cord-Gonadal Stromal Tumor

Pathways related to Sex Cord-Gonadal Stromal Tumor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.3 INHA NR5A1 PGR

GO Terms for Sex Cord-Gonadal Stromal Tumor

Biological processes related to Sex Cord-Gonadal Stromal Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.54 INHA NR5A1 WT1
2 tissue development GO:0009888 9.48 NR5A1 WT1
3 female gonad development GO:0008585 9.46 FOXL2 NR5A1
4 adrenal gland development GO:0030325 9.43 NR5A1 WT1
5 apoptotic DNA fragmentation GO:0006309 9.4 DICER1 FOXL2
6 positive regulation of male gonad development GO:2000020 9.32 NR5A1 WT1
7 sex determination GO:0007530 9.26 NR5A1 WT1
8 ovulation from ovarian follicle GO:0001542 9.16 AFP PGR
9 positive regulation of follicle-stimulating hormone secretion GO:0046881 8.96 FOXL2 INHA
10 negative regulation of female gonad development GO:2000195 8.62 NR5A1 WT1

Sources for Sex Cord-Gonadal Stromal Tumor

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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