Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Neoplasm of the adrenal medulla (HP:0100642)

Parent Node:
Pheochromocytoma (HP:0002666)

..Starting node
..Adrenal pheochromocytoma (HP:0006748)

Term ID:

6748

Name:

Adrenal pheochromocytoma

Synonym:

Pheochromocytoma, adrenal; Pheochromocytomas, adrenal

Definition:

Pheochromocytoma originating from the adrenal medulla.

Comments:

Reference:

HP:0006748

Genes and Diseases:

Child Nodes:

Sister Nodes:

Extraadrenal pheochromocytoma (HP:0006737)

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:0006748	HP:0006748	Adrenal pheochromocytoma	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040281 - Very frequent	44
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040281 - Very frequent	112
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	301
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	202
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	84
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	4
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	1952
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	572
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040281 - Very frequent	572
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	304
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	55
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	237
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040281 - Very frequent	237
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	147
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	129
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040281 - Very frequent	129
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	131
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent	490
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040281 - Very frequent	490
HP:0006748	HP:0006748	Adrenal pheochromocytoma	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490

Genes (18) :CCND1 DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (6) :ORPHA:892 ORPHA:29072 ORPHA:276621 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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