Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar		1
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	124
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.	1819
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	102
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar		59
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040283 - Occasional	665
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1		3
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0002859	HP:0002859	Rhabdomyosarcoma	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0002859	HP:0500092	Orbital rhabdomyosarcoma	1	CL E G H
HP:0002859	HP:0006743	Embryonal rhabdomyosarcoma	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002859	HP:0006779	Alveolar rhabdomyosarcoma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0002859	HP:0006743	Embryonal rhabdomyosarcoma	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0002859	HP:0006779	Alveolar rhabdomyosarcoma	1	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.	1
HP:0002859	HP:0006779	Alveolar rhabdomyosarcoma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare
HP:0002859	HP:0006779	Alveolar rhabdomyosarcoma	1	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.	59
HP:0002859	HP:0006779	Alveolar rhabdomyosarcoma	1	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.
HP:0002859	HP:0006743	Embryonal rhabdomyosarcoma	1	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1	.	3