BDC
MCID: CLL002
MIFTS: 45

Collecting Duct Carcinoma (BDC)

Categories: Cancer diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Collecting Duct Carcinoma

MalaCards integrated aliases for Collecting Duct Carcinoma:

Name: Collecting Duct Carcinoma 12 53 59 15
Renal Medullary Carcinoma 12 53 59
Collecting Duct Carcinoma of the Kidney 53 73
Kidney Medullary Carcinoma 53 73
Bellini Duct Carcinoma 53 59
Bellini Carcinoma 53 59
Bdc 53 59
Cdc 53 59
Renal Carcinoma, Collecting Duct Type 12
Carcinoma of Renal Collecting Duct 12
Renal Collecting Duct Carcinoma 53

Characteristics:

Orphanet epidemiological data:

59
collecting duct carcinoma
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4464
MeSH 44 D002292
NCIt 50 C6194
ICD10 via Orphanet 34 C64
MESH via Orphanet 45 D002292
UMLS via Orphanet 74 C1266044

Summaries for Collecting Duct Carcinoma

NIH Rare Diseases : 53 Collecting duct carcinoma (CDC) is a rare and aggressive form of kidney cancer that begins in the collecting duct of the kidney. Many people with CDC have no signs or symptoms until the cancer is at an advanced stage. Symptoms may include flank pain, unexplained weight loss, or blood in the urine. Although it can affect people of all ages, CDC tends to occur in younger patients. The exact cause of CDC is unknown. It usually occurs in people with no family history of the condition. Treatment options for CDC may include surgery and/or chemotherapy.

MalaCards based summary : Collecting Duct Carcinoma, also known as renal medullary carcinoma, is related to renal cell carcinoma, nonpapillary and spindle cell carcinoma, and has symptoms including flank pain An important gene associated with Collecting Duct Carcinoma is XIST (X Inactive Specific Transcript). The drugs Sunitinib and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, breast and brain.

Disease Ontology : 12 Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).

Wikipedia : 76 Collecting duct carcinoma (CDC) (also known as Bellini duct carcinoma), is a type of kidney cancer that... more...

Related Diseases for Collecting Duct Carcinoma

Diseases related to Collecting Duct Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 224)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 32.2 AMACR KRT7 MME PAX8 SETD2
2 spindle cell carcinoma 29.9 AMACR KRT7
3 chromophobe renal cell carcinoma 29.7 KRT7 MME
4 oncocytoma 29.7 AMACR KRT7 MME
5 renal cell carcinoma, papillary, 1 29.6 AMACR KRT7 MME PAX8 SETD2
6 clear cell renal cell carcinoma 29.4 KRT7 MME PAX8 PBRM1 SETD2
7 brachydactyly, type c 11.4
8 cervical cancer 11.4
9 breast cancer 11.3
10 ovarian cancer 11.3
11 chagas disease 11.3
12 bazex syndrome 11.3
13 traumatic brain injury 11.2
14 zika virus infection 11.2
15 porphyria, acute hepatic 11.2
16 acute flaccid myelitis 11.2
17 nodding syndrome 11.2
18 renal cell carcinoma, xp11-associated 11.2
19 angioedema, hereditary, type i 11.0
20 coloboma of optic nerve 11.0
21 lung cancer 11.0
22 conotruncal heart malformations 11.0
23 coumarin resistance 10.9
24 diabetes insipidus, neurohypophyseal 10.9
25 carney complex, type 1 10.9
26 citrullinemia, classic 10.9
27 congenital disorder of glycosylation, type ib 10.9
28 duane-radial ray syndrome 10.9
29 hemophagocytic lymphohistiocytosis 10.9
30 clostridium difficile colitis 10.9
31 salmonellosis 10.9
32 rabies 10.9
33 tetanus 10.9
34 hantavirus pulmonary syndrome 10.9
35 folliculitis 10.9
36 toxocariasis 10.9
37 congenital rubella 10.9
38 congenital zika syndrome 10.9
39 influenza 10.2
40 hepatitis 10.2
41 nephrogenic adenoma of urinary bladder 10.2 KRT7 PAX8
42 bladder benign neoplasm 10.2 KRT7 PAX8
43 vulvar sarcoma 10.2 KRT7 SMARCB1
44 endosalpingiosis 10.2 KRT7 PAX8
45 renal pelvis adenocarcinoma 10.2 KRT7 PAX8
46 sensory organ benign neoplasm 10.2 KRT7 PAX8
47 endocervical carcinoma 10.2 KRT7 PAX8
48 renal pelvis carcinoma 10.1 KRT7 PAX8
49 peritoneum cancer 10.1 KRT7 PAX8
50 epithelial-myoepithelial carcinoma 10.1 KRT7 SMARCB1

Graphical network of the top 20 diseases related to Collecting Duct Carcinoma:



Diseases related to Collecting Duct Carcinoma

Symptoms & Phenotypes for Collecting Duct Carcinoma

UMLS symptoms related to Collecting Duct Carcinoma:


flank pain

Drugs & Therapeutics for Collecting Duct Carcinoma

Drugs for Collecting Duct Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
2
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
3
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
4
Gemcitabine Approved Phase 2 95058-81-4 60750
5
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
6
Bevacizumab Approved, Investigational Phase 2 216974-75-3
7
Everolimus Approved Phase 2 159351-69-6 6442177
8
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
12 Angiogenesis Inhibitors Phase 2
13 Angiogenesis Modulating Agents Phase 2
14 Vitamin B9 Phase 2
15 Antiviral Agents Phase 2
16 Trace Elements Phase 2
17 Vitamins Phase 2
18 Vitamin B3 Phase 2
19 Antimetabolites, Antineoplastic Phase 2
20 Protein Kinase Inhibitors Phase 2
21 Immunologic Factors Phase 2
22 Immunosuppressive Agents Phase 2
23 Anti-Infective Agents Phase 2
24 Nicotinic Acids Phase 2
25 Micronutrients Phase 2
26 Antimetabolites Phase 2
27 Folate Phase 2
28 Vitamin B Complex Phase 2
29 Antifungal Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Anti-Bacterial Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial Of Sunitinib In Advanced Non-Clear Cell Type Renal Cell Carcinoma Unknown status NCT01219751 Phase 2 Sunitinib
2 Sorafenib Combined With Chemotherapy for Renal Collecting Duct Carcinoma Completed NCT01762150 Phase 2 Sorafenib;Gemcitabine;Cisplatin
3 Sunitinib Malate in Patients With Non-Clear Cell Renal Cell Cancer Completed NCT00465179 Phase 2 Sunitinib Malate
4 Study of Gemcitabine+Platinium Salt+Bevacizumab Combination for Metastatic Collecting Duct Carcinoma (GETUG-AFU 24) Recruiting NCT02363751 Phase 2 Bevacizumab
5 caBozantinib in cOllectiNg ductS Renal Cell cArcInoma Recruiting NCT03354884 Phase 2 Cabometyx
6 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Active, not recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
7 Everolimus Versus Sunitinib in Non-Clear Cell Renal Cell Carcinoma Active, not recruiting NCT01185366 Phase 2 Everolimus;Sunitinib
8 ANZUP - Non-clear Cell Post Immunotherapy CABozantinib (UNICAB) Not yet recruiting NCT03685448 Phase 2 Cabozantinib

Search NIH Clinical Center for Collecting Duct Carcinoma

Genetic Tests for Collecting Duct Carcinoma

Anatomical Context for Collecting Duct Carcinoma

MalaCards organs/tissues related to Collecting Duct Carcinoma:

41
Kidney, Breast, Brain, Heart, Ovary, Prostate, Thymus

Publications for Collecting Duct Carcinoma

Articles related to Collecting Duct Carcinoma:

(show top 50) (show all 224)
# Title Authors Year
1
Atypical presentation of renal medullary carcinoma: A case report and review of the literature. ( 30306049 )
2019
2
Prognostic significance of neutrophil-to-lymphocyte ratio in collecting duct carcinoma. ( 29846639 )
2018
3
Sorafenib in combination with gemcitabine plus cisplatin chemotherapy in metastatic renal collecting duct carcinoma: A prospective, multicentre, single-arm, phase 2 study. ( 29933095 )
2018
4
Management of Metastatic Collecting Duct Carcinoma: An Encouraging Result in a Patient Treated With Cabozantinib. ( 29656939 )
2018
5
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma. ( 29309300 )
2018
6
BK virus-associated collecting duct carcinoma of the renal allograft in a kidney-pancreas allograft recipient. ( 29599935 )
2018
7
Collecting duct carcinoma kidney masquerading as hydatid cyst: A rare case report and review of literature. ( 30004068 )
2018
8
A Composite Renal Tumor with Dual Differentiation, Chromophobe and Collecting Duct Carcinoma. ( 30228921 )
2018
9
Nivolumab therapy for metastatic collecting duct carcinoma after nephrectomy: A case report. ( 30407350 )
2018
10
Renal medullary carcinoma: a nearly fatal malignancy specifically affecting patients with a so-called benign condition. ( 29396817 )
2018
11
A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma. ( 29440190 )
2018
12
Autologous stem-cell transplant for metastatic renal medullary carcinoma. ( 29856525 )
2018
13
Metastatic Renal Medullary Carcinoma Treated With Immune Checkpoint Inhibitor: Case Report and Literature Review. ( 30122516 )
2018
14
Updated Recommendations on the Diagnosis, Management, and Clinical Trial Eligibility Criteria for Patients With Renal Medullary Carcinoma. ( 30287223 )
2018
15
Clinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas. ( 28181950 )
2017
16
A Case of Metastatic Collecting Duct Carcinoma Whose Massive Skull Bone Metastasis was Prominently Reossified by Gemcitabine Plus Cisplatin Chemotherapy Combined with Zoledronic Acid. ( 28932690 )
2017
17
Sarcomatoid Renal Cell Carcinoma and Collecting Duct Carcinoma: Discrimination From Common Renal Cell Carcinoma Subtypes and Benign RCC Mimics on Multiphasic MDCT. ( 28528853 )
2017
18
Response to nivolumab in metastatic collecting duct carcinoma expressing PD-L1: A case report. ( 29285361 )
2017
19
Collecting Duct Carcinoma of the Native Kidney in a Renal Transplant Recipient. ( 29062581 )
2017
20
Collecting duct carcinoma of the kidney: Disease characteristics and treatment outcomes from the National Cancer Database. ( 28495554 )
2017
21
Renal Medullary Carcinoma: The Kidney Cancer That Affects Individuals With Sickle Cell Trait and Disease. ( 28697316 )
2017
22
Management and outcomes of patients with renal medullary carcinoma: a multicentre collaborative study. ( 27860149 )
2017
23
Platinum plus bortezomib for the treatment of pediatric renal medullary carcinoma: Two cases. ( 28052556 )
2017
24
Clinical and immunologic correlates of response to PD-1 blockade in a patient with metastatic renal medullary carcinoma. ( 28105368 )
2017
25
Renal Medullary Carcinoma with an Aggressive Clinical Course: A Case Report and Review of the Literature. ( 28203160 )
2017
26
Renal Medullary Carcinoma and Sickle Cell Trait: A Push for Early Diagnosis and Intervention Report of Two Cases. ( 28259220 )
2017
27
Renal Medullary Carcinoma; A Rare Entity. ( 28360450 )
2017
28
Imaging of Renal Medullary Carcinoma. ( 28405543 )
2017
29
Renal medullary carcinoma with an ophthalmic metastasis. ( 28479774 )
2017
30
Renal medullary carcinoma: A national analysis of 159 patients. ( 28485059 )
2017
31
Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes. ( 28558987 )
2017
32
Imaging of renal medullary carcinoma in children and young adults: a report from the Children's Oncology Group. ( 28689245 )
2017
33
Renal Medullary Carcinoma: Establishing Standards in Practice. ( 28697319 )
2017
34
Renal Medullary Carcinoma. ( 28697324 )
2017
35
Renal cell carcinoma, unclassified with medullary phenotype: poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma. ( 28716439 )
2017
36
Predictive role of PD-L1 expression in the response of renal Medullary carcinoma to PD-1 inhibition. ( 28807004 )
2017
37
Renal Medullary Carcinoma Associated with Sickle Cell Trait. ( 28898179 )
2017
38
Potential new strategies for the treatment of renal medullary carcinoma. ( 29168338 )
2017
39
Anti-programmed Death Receptor 1 Blockade Induces Clinical Response in a Patient With Metastatic Collecting Duct Carcinoma. ( 27021586 )
2016
40
Collecting Duct Carcinoma With Cardiac Metastases: A Case Report &A Literature Review. ( 26977410 )
2016
41
A renal adenocarcinoma in a corn snake (Pantherophis guttatus) resembling human collecting duct carcinoma. ( 27493139 )
2016
42
Collecting duct carcinoma of the kidney is associated with CDKN2A deletion and SLC family gene up-regulation. ( 27144525 )
2016
43
Enhanced MRI and 18F-FDG PET/CT Findings of Preoperative Primary Renal Collecting Duct Carcinoma. ( 27775947 )
2016
44
Targeted Therapy in Collecting Duct Carcinoma of the Kidney: A Case Report and Literature Review. ( 26684811 )
2016
45
Is There a Role for Antiangiogenic Therapy in Renal Medullary Carcinoma? ( 26586119 )
2016
46
Clinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases. ( 26870200 )
2016
47
Is renal medullary carcinoma the seventh nephropathy in sickle cell disease? A multi-center Nigerian survey. ( 27605964 )
2016
48
Retraction Note: Collecting duct carcinoma of the kidney: a clinicopathological study of five cases. ( 25884188 )
2015
49
Collecting duct carcinoma of the kidney: A case report. ( 26137167 )
2015
50
Papillary renal cell carcinoma and collecting duct carcinoma combination. A case report and review of synchronous renal cell carcinoma subtypes in the same kidney. ( 26170866 )
2015

Variations for Collecting Duct Carcinoma

Cosmic variations for Collecting Duct Carcinoma:

9 (show top 50) (show all 260)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10659 TP53 kidney,NS,carcinoma,collecting duct carcinoma c.817C>T p.R273C 17:7673803-7673803 33
2 COSM3355991 kidney,NS,carcinoma,collecting duct carcinoma c.817C>T p.R273C 17:7673803-7673803 33
3 COSM99933 kidney,NS,carcinoma,collecting duct carcinoma c.817C>T p.R273C 17:7673803-7673803 33
4 COSM1645518 kidney,NS,carcinoma,collecting duct carcinoma c.817C>T p.R273C 17:7673803-7673803 33
5 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 28
6 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 28
7 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma c.548C>A p.S183* 3:10149871-10149871 28
8 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma c.256C>T p.P86S 3:10142103-10142103 28
9 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma c.292T>G p.Y98D 3:10142139-10142139 28
10 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma c.245G>C p.R82P 3:10142092-10142092 28
11 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma c.266T>A p.L89H 3:10142113-10142113 28
12 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 28
13 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma c.234T>G p.N78K 3:10142081-10142081 28
14 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma c.500G>A p.R167Q 3:10149823-10149823 28
15 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma c.482G>A p.R161Q 3:10149805-10149805 28
16 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma c.341-2A>T p.? 3:10146512-10146512 28
17 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma c.217C>T p.Q73* 3:10142064-10142064 28
18 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 28
19 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma c.541G>A p.V181M 16:2055461-2055461 28
20 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.2287C>T p.Q763* 9:132902709-132902709 28
21 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.1001C>A p.S334* 9:132911481-132911481 28
22 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.508+1G>T p.? 9:132923347-132923347 28
23 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 28
24 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 28
25 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma c.374C>G p.T125R 17:7675995-7675995 28
26 COSM10647 TP53 kidney,NS,carcinoma,renal cell carcinoma c.404G>T p.C135F 17:7675208-7675208 28
27 COSM44310 TP53 kidney,NS,carcinoma,renal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 28
28 COSM6922197 TP53 kidney,NS,carcinoma,renal cell carcinoma c.97-2A>C p.? 17:7676274-7676274 28
29 COSM45135 TP53 kidney,NS,carcinoma,renal cell carcinoma c.673-1G>T p.? 17:7674291-7674291 28
30 COSM6929752 TBX3 kidney,NS,carcinoma,renal cell carcinoma c.510G>T p.W170C 12:114681026-114681026 28
31 COSM6979493 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2096+1G>A p.? 23:124065947-124065947 28
32 COSM6975582 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.1348A>T p.R450* 23:124057909-124057909 28
33 COSM6023628 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2860C>T p.R954C 23:124081464-124081464 28
34 COSM6963119 SPOP kidney,NS,carcinoma,renal cell carcinoma c.265T>G p.L89V 17:49619321-49619321 28
35 COSM989 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.1130G>A p.R377H 22:23834152-23834152 28
36 COSM6964939 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.987-2A>T p.? 22:23833570-23833570 28
37 COSM1266238 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma c.3575G>A p.R1192H 19:11033318-11033318 28
38 COSM6947611 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.863C>A p.S288* 3:47122264-47122264 28
39 COSM6975580 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.4736C>G p.S1579* 3:47062211-47062211 28
40 COSM4118007 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.3266G>A p.R1089Q 3:47106061-47106061 28
41 COSM4794860 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.5922+1G>A p.? 3:47019759-47019759 28
42 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 28
43 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 28
44 COSM6925125 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.179C>A p.S60* 23:47169476-47169476 28
45 COSM6922201 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.299G>C p.G100A 23:47171125-47171125 28
46 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9:123020414-123020414 28
47 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 28
48 COSM6947629 PTCH1 kidney,NS,carcinoma,renal cell carcinoma c.3616C>T p.R1206C 9:95449257-95449257 28
49 COSM6927541 PRKN kidney,NS,carcinoma,renal cell carcinoma c.629T>G p.F210C 6:161973407-161973407 28
50 COSM6913448 POLE kidney,NS,carcinoma,renal cell carcinoma c.4735C>T p.R1579C 12:132642723-132642723 28

Expression for Collecting Duct Carcinoma

Search GEO for disease gene expression data for Collecting Duct Carcinoma.

Pathways for Collecting Duct Carcinoma

GO Terms for Collecting Duct Carcinoma

Biological processes related to Collecting Duct Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.33 PBRM1 SETD2 SMARCB1
2 ATP-dependent chromatin remodeling GO:0043044 8.96 PBRM1 SMARCB1
3 nucleosome disassembly GO:0006337 8.62 PBRM1 SMARCB1

Sources for Collecting Duct Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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