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:
Paraganglioma (HP:0002668)

Parent Node:
Paraganglioma of head and neck (HP:0002864)

..Starting node
..Glomus jugular tumor (HP:0003001)

Term ID:

3001

Name:

Glomus jugular tumor

Synonym:

Glomus jugular tumour; Glomus jugulare tumor; Glomus jugulare tumors; Glomus jugulare tumour; Glomus jugulare tumours

Definition:

Comments:

Reference:

HP:0003001

Genes and Diseases:

Child Nodes:

Sister Nodes:

Carotid paraganglioma (HP:0100635)

Glomus tympanicum paraganglioma (HP:0006715)

Vagal paraganglioma (HP:0002886)

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:0003001	HP:0003001	Glomus jugular tumor	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0003001	HP:0003001	Glomus jugular tumor	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0003001	HP:0003001	Glomus jugular tumor	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0003001	HP:0003001	Glomus jugular tumor	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0003001	HP:0003001	Glomus jugular tumor	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129

Genes (5) :NF1 SDHAF2 SDHB SDHC SDHD

Diseases (5) :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.