MCID: CHL010
MIFTS: 39

Childhood Kidney Cell Carcinoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Childhood Kidney Cell Carcinoma

MalaCards integrated aliases for Childhood Kidney Cell Carcinoma:

Name: Childhood Kidney Cell Carcinoma 12 15
Pediatric Renal Cell Carcinoma 12
Childhood Renal Cell Carcinoma 70

Classifications:



External Ids:

Disease Ontology 12 DOID:4454
NCIt 50 C6568
UMLS 70 C1333001

Summaries for Childhood Kidney Cell Carcinoma

MalaCards based summary : Childhood Kidney Cell Carcinoma, also known as pediatric renal cell carcinoma, is related to renal cell carcinoma, nonpapillary and renal cell carcinoma, papillary, 1, and has symptoms including flank pain An important gene associated with Childhood Kidney Cell Carcinoma is TFE3 (Transcription Factor Binding To IGHM Enhancer 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Renal cell carcinoma. The drugs Vincristine and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and skeletal muscle, and related phenotype is pigmentation.

Related Diseases for Childhood Kidney Cell Carcinoma

Diseases related to Childhood Kidney Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 30.5 TFEB TFE3 PRCC MITF
2 renal cell carcinoma, papillary, 1 28.2 TFEB TFE3 SFPQ PRCC MITF CLTC
3 eosinophilic variant of chromophobe renal cell carcinoma 10.2 TFEB TFE3
4 neuroblastoma 10.2
5 nephrogenic adenofibroma 10.2 TFE3 PRCC
6 renal adenoma 10.1 TFE3 PRCC
7 clear cell papillary renal cell carcinoma 10.1 TFE3 MITF
8 uterus perivascular epithelioid cell tumor 10.1 TFE3 MITF
9 autosomal dominant non-syndromic intellectual disability 19 10.1 TFE3 MITF
10 albinism, ocular, with late-onset sensorineural deafness 10.1 TFE3 MITF
11 kidney benign neoplasm 10.1 TFE3 PRCC
12 waardenburg syndrome, type 4b 10.1 TFEB MITF
13 skeletal muscle cancer 10.1 TFE3 ASPSCR1
14 vascular cancer 10.0 TFE3 MITF
15 tietz albinism-deafness syndrome 10.0 TFEC MITF
16 angiomyolipoma 10.0 TFE3 MITF
17 muscle cancer 10.0 TFE3 ASPSCR1
18 clear cell sarcoma 10.0 TFE3 MITF
19 perivascular epithelioid cell tumor 10.0 TFE3 MITF ASPSCR1
20 rhabdomyosarcoma 2 10.0 TFE3 ASPSCR1
21 pycnodysostosis 10.0 TFEB TFE3 MITF
22 oncocytoma 9.9
23 leukemia, acute lymphoblastic 9.9
24 urinary tract infection 9.9
25 leiomyosarcoma 9.9
26 adenocarcinoma 9.9
27 clear cell renal cell carcinoma 9.9
28 chromophobe renal cell carcinoma 9.9
29 supratentorial primitive neuroectodermal tumor 9.9
30 polycythemia 9.9
31 lymph node disease 9.9
32 47,xyy 9.9
33 chromophil renal cell carcinoma 9.9
34 waardenburg syndrome, type 2e 9.9 TFEC TFEB MITF
35 osteopetrosis 9.9 TFEB TFE3 MITF
36 alveolar soft part sarcoma 9.8 TFEC TFE3 PRCC ASPSCR1
37 waardenburg syndrome, type 2a 9.8 TFEC TFEB TFE3 MITF
38 waardenburg's syndrome 9.8 TFEC TFEB TFE3 MITF
39 microphthalmia 9.7 TFEC TFEB TFE3 MITF
40 mesenchymal cell neoplasm 9.6 TPM3 TFE3 CLTC
41 inflammatory myofibroblastic tumor 9.4 TPM3 CLTC
42 perivascular tumor 9.3 TFEB TFE3 SFPQ PRCC MITF ASPSCR1
43 renal cell carcinoma, xp11-associated 9.1 TFEB TFE3 SFPQ PRCC CLTC ASPSCR1

Graphical network of the top 20 diseases related to Childhood Kidney Cell Carcinoma:



Diseases related to Childhood Kidney Cell Carcinoma

Symptoms & Phenotypes for Childhood Kidney Cell Carcinoma

UMLS symptoms related to Childhood Kidney Cell Carcinoma:


flank pain

MGI Mouse Phenotypes related to Childhood Kidney Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 MITF TFE3 TFEB TFEC

Drugs & Therapeutics for Childhood Kidney Cell Carcinoma

Drugs for Childhood Kidney Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
2
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
3
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Dactinomycin Approved, Investigational Phase 2 50-76-0 2019 457193
6
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
7
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
8
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
9
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
10 Immunosuppressive Agents Phase 2
11 Immunologic Factors Phase 2
12 Anti-Infective Agents Phase 2
13
Liposomal doxorubicin Phase 2 31703
14 topoisomerase I inhibitors Phase 2
15 Tubulin Modulators Phase 2
16 Antirheumatic Agents Phase 2
17 Anti-Bacterial Agents Phase 2
18 Antimitotic Agents Phase 2
19 Antibiotics, Antitubercular Phase 2
20
Isophosphamide mustard Phase 1, Phase 2 100427
21 Liver Extracts Phase 1, Phase 2
22 Alkylating Agents Phase 1, Phase 2
23 Etoposide phosphate Phase 1, Phase 2
24 Protein Kinase Inhibitors Phase 1, Phase 2
25
Sargramostim Approved, Investigational Phase 1 123774-72-1, 83869-56-1
26
Mesna Approved, Investigational Phase 1 3375-50-6 598
27
Melphalan Approved Phase 1 148-82-3 4053 460612
28
Busulfan Approved, Investigational Phase 1 55-98-1 2478
29
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
30
Lenograstim Approved, Investigational Phase 1 135968-09-1
31
Molgramostim Investigational Phase 1 99283-10-0
32 Cola Phase 1
33 Vaccines Phase 1
34 Protective Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
2 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
3 A Pilot Study of Irradiated HLA-Partially Matched Allogeneic Related Donor Lymphocytes for Patients With Selected Malignancies Completed NCT00161187 Phase 1
4 Dose Escalation of Total Marrow Irradiation Added to an Alkylator-Intense Conditioning Regimen for Patients With High Risk or Relapsed Solid Tumors Terminated NCT00623077 Phase 1 busulfan;etoposide;ifosfamide;melphalan;thiotepa;Mesna
5 Assessment of Patterns of Expression of VEGF, Matrix Metalloproteinase 2, 9 Activity, E-Cadherin Regulation and CA-9 Activity as Predictors of Aggressive Renal Cell Carcinoma Behavior Withdrawn NCT00908739

Search NIH Clinical Center for Childhood Kidney Cell Carcinoma

Genetic Tests for Childhood Kidney Cell Carcinoma

Anatomical Context for Childhood Kidney Cell Carcinoma

MalaCards organs/tissues related to Childhood Kidney Cell Carcinoma:

40
Kidney, Lymph Node, Skeletal Muscle, Liver, Uterus

Publications for Childhood Kidney Cell Carcinoma

Articles related to Childhood Kidney Cell Carcinoma:

(show all 46)
# Title Authors PMID Year
1
Multifaceted activities of transcription factor EB in cancer onset and progression. 61
33252196 2021
2
Characteristics and outcome of pediatric renal cell carcinoma patients registered in the International Society of Pediatric Oncology (SIOP) 93-01, 2001 and UK-IMPORT database: A report of the SIOP-Renal Tumor Study Group. 61
33460450 2021
3
Characteristics and Outcome of Children with Renal Cell Carcinoma: A Narrative Review. 61
32635225 2020
4
LncRNA SCAMP1 regulates ZEB1/JUN and autophagy to promote pediatric renal cell carcinoma under oxidative stress via miR-429. 61
31550675 2019
5
Pediatric renal cell carcinoma. 61
31261184 2019
6
Treatment of advanced pediatric renal cell carcinoma. 61
31012542 2019
7
Lymph node imaging of pediatric renal and suprarenal malignancies. 61
30456181 2018
8
Nephron-sparing surgery in the treatment of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions. 61
28365106 2017
9
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. 61
27748010 2017
10
[Secondary TFE3-associated renal cell carcinoma in a child treated for Ewing sarcoma]. 61
26702489 2016
11
BRAF mutations in pediatric metanephric tumors. 61
26014474 2015
12
Characterization of adolescent and pediatric renal cell carcinoma: A report from the Children's Oncology Group study AREN03B2. 61
25845370 2015
13
Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions. 61
24726108 2014
14
Persistent complete response after single-agent sunitinib treatment in a case of TFE translocation positive relapsed metastatic pediatric renal cell carcinoma. 61
22995920 2013
15
A robotic-assisted laparoscopic approach for pediatric renal cell carcinoma allows for both nephron-sparing surgery and extended lymph node dissection. 61
23084214 2012
16
Long-term graft-versus-tumor effect following reduced intensity hematopoietic stem cell transplantation in a child with metastatic renal cell carcinoma. 61
22231905 2012
17
Identification of anaplastic lymphoma kinase fusions in renal cancer: large-scale immunohistochemical screening by the intercalated antibody-enhanced polymer method. 61
22252991 2012
18
CT and MRI appearances and radiologic staging of pediatric renal cell carcinoma. 61
22249598 2012
19
PAX2 expression in Wilms tumors and other childhood neoplasms. 61
21730820 2011
20
Papillary renal cell carcinoma: report of a rare entity in childhood with review of the clinical management. 61
21683189 2011
21
Pediatric Renal Cell Carcinoma. 61
21057600 2010
22
Pediatric renal cell carcinoma. 61
19443274 2009
23
Pediatric genitourinary tumors. 61
19295433 2009
24
Retroperitoneal lymph node dissection for pediatric renal cell carcinoma. 61
19003909 2009
25
Local lymph node involvement in pediatric renal cell carcinoma: a report from the Italian TREP project. 61
18561180 2008
26
[Pediatric renal cell carcinoma. A rare differential diagnosis of Wilms' tumor]. 61
18210066 2008
27
Cytologic and cytogenetic diagnosis of pediatric renal cell carcinoma associated with t(X;17). 61
18540314 2008
28
Translocation renal cell carcinoma: lack of negative impact due to lymph node spread. 61
18278810 2008
29
Pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. 61
18203790 2008
30
Pediatric renal cell carcinoma as second malignancy: reports of two cases and a review of the literature. 61
18163925 2007
31
Pediatric renal cell carcinoma with oncocytoid features occurring in a child after chemotherapy for cardiac leiomyosarcoma. 61
17656235 2007
32
Renal cell carcinoma with t(X;17)(p11.2;q25) in a 6-year-old Taiwanese boy. 61
17149613 2007
33
Cytogenetic findings in pediatric renal cell carcinoma. 61
17284375 2007
34
Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the mit transcription factor family. 61
16880148 2006
35
Pediatric renal cell carcinoma: single institution 25-year case series and initial experience with partial nephrectomy. 61
16516019 2006
36
Renal cell carcinoma: Children's Hospital Boston experience. 61
16360460 2005
37
Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins. 61
16328670 2005
38
Pediatric renal-cell carcinoma. 61
15880715 2005
39
Pediatric renal tumors: practical updates for the pathologist. 61
16010493 2005
40
Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma. 61
15674850 2005
41
Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma. 61
15378495 2004
42
[Pediatric renal cell carcinoma]. 61
15168078 2004
43
Renal cell carcinoma in children: experience at a single institution in Japan. 61
10492224 1999
44
Partial nephrectomy for pediatric renal cell carcinoma: an unusual case presentation. 61
9123719 1997
45
Pediatric renal cell carcinoma: a complete response to recombinant interleukin-2 in a child with metastatic disease at diagnosis. 61
8058009 1994
46
Developmental pattern of Thy-1 immunoreactivity in the human kidney and the application to pediatric renal neoplasms. 61
8097308 1993

Variations for Childhood Kidney Cell Carcinoma

Cosmic variations for Childhood Kidney Cell Carcinoma:

9 (show top 50) (show all 852)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM108082894 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 3
2 COSM92179769 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 3
3 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 3
4 COSM90652475 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 3
5 COSM90649111 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3275A>T p.? 3:10146512-10146512 3
6 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 3
7 COSM90649287 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 3
8 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 3
9 COSM90650671 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3261T>C p.? 3:10146526-10146526 3
10 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 3
11 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 3
12 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 3
13 COSM90652409 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 3
14 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 3
15 COSM90657935 VHL kidney,NS,carcinoma,renal cell c.362G>T p.C121F 3:10149808-10149808 3
16 COSM90649307 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 3
17 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 3
18 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 3
19 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 3
20 COSM90653546 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.377G>A p.R126Q 3:10149823-10149823 3
21 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 3
22 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 3
23 COSM90654329 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.425C>A p.S142* 3:10149871-10149871 3
24 COSM90648957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.359G>A p.R120Q 3:10149805-10149805 3
25 COSM90652570 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 3
26 COSM90667186 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 3
27 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 3
28 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 3
29 COSM136625321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1152+1G>T p.? 16:2060814-2060814 3
30 COSM101188763 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.584G>T p.C195F 16:2056726-2056726 3
31 COSM90412033 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 3
32 COSM102627070 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 3
33 COSM150363299 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 3
34 COSM101182982 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3136C>T p.R1046* 16:2080179-2080179 3
35 COSM136625326 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1633-1G>T p.? 16:2065518-2065518 3
36 COSM136625708 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2389-1G>C p.? 16:2074199-2074199 3
37 COSM150363390 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 3
38 COSM151751598 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 3
39 COSM136625557 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1009-1G>A p.? 16:2060669-2060669 3
40 COSM102627193 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 3
41 COSM150588440 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 3
42 COSM148998180 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 3
43 COSM151375260 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 3
44 COSM148989362 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 3
45 COSM101188445 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.972+1G>T p.? 16:2060814-2060814 3
46 COSM149810997 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 3
47 COSM87037342 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 3
48 COSM149804363 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3280C>T p.R1094* 16:2080179-2080179 3
49 COSM90411912 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 3
50 COSM147703838 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 3

Expression for Childhood Kidney Cell Carcinoma

Search GEO for disease gene expression data for Childhood Kidney Cell Carcinoma.

Pathways for Childhood Kidney Cell Carcinoma

Pathways related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 TFE3 PRCC MITF ASPSCR1
2 10.99 TFE3 PRCC
3 10.96 TFEB TFE3 MITF

GO Terms for Childhood Kidney Cell Carcinoma

Cellular components related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.5 TFEC TFEB TFE3 SFPQ PRCC MITF
2 clathrin-coated vesicle GO:0030136 9.16 SCAMP1 CLTC
3 chromatin GO:0000785 9.02 TFEC TFEB TFE3 SFPQ MITF

Biological processes related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.55 TFEC TFEB TFE3 SFPQ MITF
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.35 TFEC TFEB TFE3 SFPQ MITF
3 humoral immune response GO:0006959 9.26 TFEB TFE3
4 regulation of osteoclast differentiation GO:0045670 8.62 TFE3 MITF

Molecular functions related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 9.13 TFEB TFE3 SFPQ
2 protein dimerization activity GO:0046983 8.92 TFEC TFEB TFE3 MITF

Sources for Childhood Kidney Cell Carcinoma

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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