Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the musculature (HP:0003011)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of striated muscle (HP:0009728)

..Starting node
..Rhabdomyoma (HP:0009730)

Term ID:

9730

Name:

Rhabdomyoma

Synonym:

Definition:

A benign tumor of striated muscle.

Comments:

Reference:

HP:0009730

Genes and Diseases:

Child Nodes:

........

Cardiac rhabdomyoma (HP:0009729)

Sister Nodes:

Rhabdomyosarcoma (HP:0002859)

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:0009730	HP:0009730	Rhabdomyoma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0009730	HP:0009730	Rhabdomyoma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009730	HP:0009730	Rhabdomyoma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009730	HP:0009730	Rhabdomyoma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009730	HP:0009730	Rhabdomyoma	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0009730	HP:0009730	Rhabdomyoma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009730	HP:0009730	Rhabdomyoma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0009730	HP:0009730	Rhabdomyoma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009730	HP:0009730	Rhabdomyoma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0009730	HP:0009730	Rhabdomyoma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0009730	HP:0009729	Cardiac rhabdomyoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (7) :IFNG PTCH1 PTCH2 SOX6 SUFU TSC1 TSC2

Diseases (5) :ORPHA:805 OMIM:613254 OMIM:109400 OMIM:618971 OMIM:191100

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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