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encyclopedia of Rare Disease Annotation for Precision Medicine

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	embryonal rhabdomyosarcoma

Disease ID	1023
Disease	embryonal rhabdomyosarcoma
Definition	A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)
Synonym	embryonal rhabdomyosarcoma (disorder) embryonal rhabdomyosarcoma (morphologic abnormality) embryonal rhabdomyosarcomas erms rhabdomyosarcoma, embryonal rhabdomyosarcoma, embryonal [disease/finding] rhabdomyosarcomas, embryonal
Orphanet	ORPHANET:99757
DOID	DOID:3246
UMLS	C0206656
MeSH	D018233
SNOMED-CT	SNOMEDCT_US_2016_09_01:404051002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0039538 \| teratoma \| 4 C1368910 \| mature teratoma \| 3 C0007129 \| merkel cell carcinoma \| 1 C0242852 \| proliferative vitreoretinopathy \| 1 C0027708 \| nephroma \| 1 C0035412 \| rhabdomyosarcoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 1756 \| DMD \| CTD_human 701 \| BUB1B \| CTD_human 4654 \| MYOD1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 8038 \| ADAM12 \| 1.195 \| DISEASES 174 \| AFP \| 1.532 \| DISEASES 238 \| ALK \| 1.75 \| DISEASES 84964 \| ALKBH6 \| 3.991 \| DISEASES 23365 \| ARHGEF12 \| 1.175 \| DISEASES 115557 \| ARHGEF25 \| 2.87 \| DISEASES 800 \| CALD1 \| 3.31 \| DISEASES 4267 \| CD99 \| 2.216 \| DISEASES 10370 \| CITED2 \| 1.397 \| DISEASES 10987 \| COPS5 \| 1.252 \| DISEASES 64764 \| CREB3L2 \| 2.381 \| DISEASES 1649 \| DDIT3 \| 1.026 \| DISEASES 23405 \| DICER1 \| 4.251 \| DISEASES 100288687 \| DUX4 \| 1.336 \| DISEASES 653545 \| DUX4L5 \| 1.336 \| DISEASES 1942 \| EFNA1 \| 1.167 \| DISEASES 161436 \| EML5 \| 3.296 \| DISEASES 2021 \| ENDOG \| 1.291 \| DISEASES 2042 \| EPHA3 \| 1.196 \| DISEASES 2120 \| ETV6 \| 2.211 \| DISEASES 2130 \| EWSR1 \| 1.508 \| DISEASES 2308 \| FOXO1 \| 5.057 \| DISEASES 2737 \| GLI3 \| 1.334 \| DISEASES 2262 \| GPC5 \| 2.654 \| DISEASES 23462 \| HEY1 \| 1.133 \| DISEASES 8091 \| HMGA2 \| 1.059 \| DISEASES 3481 \| IGF2 \| 3.017 \| DISEASES 3725 \| JUN \| 1.113 \| DISEASES 53353 \| LRP1B \| 2.612 \| DISEASES 5609 \| MAP2K7 \| 1.767 \| DISEASES 4151 \| MB \| 4.9 \| DISEASES 4193 \| MDM2 \| 1.726 \| DISEASES 4208 \| MEF2C \| 1.03 \| DISEASES 4311 \| MME \| 1.152 \| DISEASES 9242 \| MSC \| 1.919 \| DISEASES 4609 \| MYC \| 1.528 \| DISEASES 8648 \| NCOA1 \| 2.746 \| DISEASES 10499 \| NCOA2 \| 3.426 \| DISEASES 4703 \| NEB \| 1.358 \| DISEASES 4745 \| NELL1 \| 1.928 \| DISEASES 4763 \| NF1 \| 1.446 \| DISEASES 4773 \| NFATC2 \| 1.061 \| DISEASES 4916 \| NTRK3 \| 2.086 \| DISEASES 5077 \| PAX3 \| 5.664 \| DISEASES 5081 \| PAX7 \| 5.51 \| DISEASES 5095 \| PCCA \| 1.405 \| DISEASES 29968 \| PSAT1 \| 1.377 \| DISEASES 5727 \| PTCH1 \| 2.85 \| DISEASES 6007 \| RHD \| 3.475 \| DISEASES 23583 \| SMUG1 \| 1.188 \| DISEASES 6654 \| SOS1 \| 1.742 \| DISEASES 6663 \| SOX10 \| 1.496 \| DISEASES 6756 \| SSX1 \| 1.94 \| DISEASES 57620 \| STIM2 \| 1.897 \| DISEASES 51684 \| SUFU \| 1.197 \| DISEASES 6839 \| SUV39H1 \| 1.394 \| DISEASES 55775 \| TDP1 \| 1.562 \| DISEASES 7003 \| TEAD1 \| 3.433 \| DISEASES 7058 \| THBS2 \| 1 \| DISEASES 7150 \| TOP1 \| 1.179 \| DISEASES 80328 \| ULBP2 \| 1.542 \| DISEASES 245806 \| VGLL2 \| 3.686 \| DISEASES 7490 \| WT1 \| 2.921 \| DISEASES 25937 \| WWTR1 \| 1.379 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1023
Disease	embryonal rhabdomyosarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0009792 \| Teratoma \| 4 HP:0002664 \| Neoplasia \| 3 HP:0007773 \| Vitreoretinopathy \| 1 HP:0000969 \| Dropsy \| 1 HP:0100616 \| Testicular teratoma \| 1 HP:0011505 \| Cystoid macular edema \| 1 HP:0030741 \| Teratoma of the mediastinum \| 1 HP:0040049 \| Macular edema \| 1 HP:0000160 \| Small mouth \| 1 HP:0002859 \| Rhabdomyosarcoma \| 1 HP:0010784 \| Uterine tumor \| 1 HP:0010477 \| Aplasia of the bladder \| 1 HP:0030731 \| Carcinoma \| 1

Disease ID	1023
Disease	embryonal rhabdomyosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0432412 \| trisomy 8 C0346993 \| breast metastases C0027831 \| neurofibromatosis 1
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913529	23615277	3845	KRAS	umls:C0206656	BeFree	A KRAS(G12D)-induced zebrafish embryonal rhabdomyosarcoma was then used to assess the therapeutic effects of the small molecules.	0.000271442	2013	KRAS	12	25245350	C	T,G,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1023
Disease	embryonal rhabdomyosarcoma
Case	(Waiting for update.)

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