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:0009728	HP:0009728	Neoplasm of striated muscle	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar		1
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus		124
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus		102
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar		59
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1		3
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0009728	HP:0009728	Neoplasm of striated muscle	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar		1
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0009728	HP:0009730	Rhabdomyoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0009728	HP:0009730	Rhabdomyoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	124
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.	1819
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	102
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar		59
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0009728	HP:0009730	Rhabdomyoma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040283 - Occasional	665
HP:0009728	HP:0009730	Rhabdomyoma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1		3
HP:0009728	HP:0009730	Rhabdomyoma	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0009728	HP:0009730	Rhabdomyoma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0009728	HP:0002859	Rhabdomyosarcoma	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0009728	HP:0009730	Rhabdomyoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0009728	HP:0009730	Rhabdomyoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009728	HP:0009730	Rhabdomyoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0009728	HP:0009730	Rhabdomyoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009728	HP:0500092	Orbital rhabdomyosarcoma	2	CL E G H
HP:0009728	HP:0006743	Embryonal rhabdomyosarcoma	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0009728	HP:0006779	Alveolar rhabdomyosarcoma	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0009728	HP:0006743	Embryonal rhabdomyosarcoma	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0009728	HP:0006779	Alveolar rhabdomyosarcoma	2	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.	1
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009728	HP:0006779	Alveolar rhabdomyosarcoma	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare
HP:0009728	HP:0006779	Alveolar rhabdomyosarcoma	2	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.	59
HP:0009728	HP:0006779	Alveolar rhabdomyosarcoma	2	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009728	HP:0006743	Embryonal rhabdomyosarcoma	2	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1	.	3
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0009728	HP:0009729	Cardiac rhabdomyoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738