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:
Neuroendocrine neoplasm (HP:0100634)

Parent Node:
Paraganglioma (HP:0002668)

..Starting node
..Paraganglioma of head and neck (HP:0002864)

Term ID:

2864

Name:

Paraganglioma of head and neck

Synonym:

Paragangliomas, head and neck

Definition:

Comments:

Reference:

HP:0002864

Genes and Diseases:

Child Nodes:

........

Vagal paraganglioma (HP:0002886)

........

Glomus jugular tumor (HP:0003001)

........

Glomus tympanicum paraganglioma (HP:0006715)

........

Carotid paraganglioma (HP:0100635)

Sister Nodes:

Chemodectoma (HP:0030074)

Pulmonary paraglioma (HP:0100636)

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:0002864	HP:0002864	Paraganglioma of head and neck	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2		55
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	HP:0040283 - Occasional	237
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0002864	HP:0002864	Paraganglioma of head and neck	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0002864	HP:0100635	Carotid paraganglioma	1	CL E G H
HP:0002864	HP:0003001	Glomus jugular tumor	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0002864	HP:0003001	Glomus jugular tumor	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0002864	HP:0006715	Glomus tympanicum paraganglioma	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0002864	HP:0002886	Vagal paraganglioma	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0002864	HP:0003001	Glomus jugular tumor	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0002864	HP:0003001	Glomus jugular tumor	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0002864	HP:0003001	Glomus jugular tumor	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0002864	HP:0006715	Glomus tympanicum paraganglioma	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0002864	HP:0002886	Vagal paraganglioma	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129

Genes (17) :DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (7) :ORPHA:29072 ORPHA:276621 ORPHA:97685 OMIM:601650 OMIM:115310 OMIM:605373 OMIM:168000

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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