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 urine homeostasis (HP:0003110)

Parent Node:
Abnormality of urine catecholamine level (HP:0011281)

..Starting node
..Elevated urinary catecholamines (HP:0011976)

Term ID:

11976

Name:

Elevated urinary catecholamines

Synonym:

Elevated urinary catecholamines

Definition:

An increased concentration of catecholamine in the urine.

Comments:

Reference:

HP:0011976

Genes and Diseases:

Child Nodes:

........

Elevated urinary norepinephrine (HP:0003345)

........

Elevated urinary epinephrine (HP:0003639)

........

Elevated urinary dopamine (HP:0011979)

Sister Nodes:

Decreased urinary catecholamine concentration (HP:0045012)

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:0011976	HP:0011976	Elevated urinary catecholamines	0	ALK CL E G H	238	427	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	320
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	HACE1 CL E G H	57531	21033	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	10
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	LIN28B CL E G H	389421	32207	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	1
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	LMO1 CL E G H	4004	6641	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	1
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	MYCN CL E G H	4613	7559	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	35
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	PHOX2B CL E G H	8929	9143	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	86
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	TOP2A CL E G H	7153	11989	ORPHA:635	Neuroblastoma	HP:0040281 - Very frequent	3
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0011976	HP:0011976	Elevated urinary catecholamines	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0011976	HP:0011979	Elevated urinary dopamine	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040281 - Very frequent	80
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011976	HP:0011979	Elevated urinary dopamine	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011976	HP:0011979	Elevated urinary dopamine	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0011976	HP:0011979	Elevated urinary dopamine	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0011976	HP:0011979	Elevated urinary dopamine	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0011976	HP:0011979	Elevated urinary dopamine	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0011976	HP:0011979	Elevated urinary dopamine	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0011976	HP:0011979	Elevated urinary dopamine	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0011976	HP:0011979	Elevated urinary dopamine	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0011976	HP:0011979	Elevated urinary dopamine	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0011976	HP:0011979	Elevated urinary dopamine	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011976	HP:0011979	Elevated urinary dopamine	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0011976	HP:0011979	Elevated urinary dopamine	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0011976	HP:0011979	Elevated urinary dopamine	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0011976	HP:0011979	Elevated urinary dopamine	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0011976	HP:0011979	Elevated urinary dopamine	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0011976	HP:0003639	Elevated urinary epinephrine	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0011976	HP:0011979	Elevated urinary dopamine	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0011976	HP:0003345	Elevated urinary norepinephrine	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490

Genes (27) :ALK CCND1 DBH DLST DNMT3A EPAS1 FH HACE1 KIF1B LIN28B LMO1 MAX MDH2 MYCN NF1 PHOX2B RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SLC6A2 TMEM127 TOP2A VHL

Diseases (11) :ORPHA:635 ORPHA:892 ORPHA:230 ORPHA:29072 ORPHA:276621 OMIM:256700 OMIM:171300 OMIM:171400 OMIM:162300 OMIM:115310 OMIM:604715

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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