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

..Starting node
..Episodic pain (HP:0032148)

Term ID:

32148

Name:

Episodic pain

Synonym:

Definition:

Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.

Comments:

Reference:

HP:0032148

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032148	HP:0032148	Episodic pain	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0032148	HP:0032148	Episodic pain	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0032148	HP:0032148	Episodic pain	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0032148	HP:0032148	Episodic pain	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0032148	HP:0032148	Episodic pain	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0032148	HP:0032148	Episodic pain	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0032148	HP:0032148	Episodic pain	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0032148	HP:0032148	Episodic pain	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0032148	HP:0032148	Episodic pain	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0032148	HP:0032148	Episodic pain	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0032148	HP:0032148	Episodic pain	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0032148	HP:0032148	Episodic pain	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0032148	HP:0032148	Episodic pain	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0032148	HP:0032148	Episodic pain	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0032148	HP:0032148	Episodic pain	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0032148	HP:0032148	Episodic pain	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0032148	HP:0032148	Episodic pain	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0032148	HP:0032148	Episodic pain	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0032148	HP:0032148	Episodic pain	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0032148	HP:0032148	Episodic pain	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0032148	HP:0032148	Episodic pain	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0032148	HP:0032148	Episodic pain	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0032148	HP:0032148	Episodic pain	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0032148	HP:0032148	Episodic pain	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0032148	HP:0032148	Episodic pain	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0032148	HP:0032148	Episodic pain	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0032148	HP:0032148	Episodic pain	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0032148	HP:0032148	Episodic pain	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0032148	HP:0032148	Episodic pain	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0032148	HP:0032148	Episodic pain	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0032148	HP:0032148	Episodic pain	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0032148	HP:0032148	Episodic pain	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0032148	HP:0032148	Episodic pain	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0032148	HP:0032148	Episodic pain	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0032148	HP:0032148	Episodic pain	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0032148	HP:0032148	Episodic pain	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0032148	HP:0032148	Episodic pain	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0032148	HP:0032148	Episodic pain	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0032148	HP:0032148	Episodic pain	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0032148	HP:0032148	Episodic pain	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0032148	HP:0032148	Episodic pain	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent	58
HP:0032148	HP:0032148	Episodic pain	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0032148	HP:0032148	Episodic pain	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0032148	HP:0032148	Episodic pain	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0032148	HP:0032148	Episodic pain	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0032148	HP:0032150	Paroxysmal rectal pain	1	CL E G H
HP:0032148	HP:0032149	Breakthrough pain	1	CL E G H
HP:0032148	HP:0002574	Episodic abdominal pain	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0032148	HP:0002574	Episodic abdominal pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional	169
HP:0032148	HP:0002574	Episodic abdominal pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional	169
HP:0032148	HP:0002574	Episodic abdominal pain	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0032148	HP:0002574	Episodic abdominal pain	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0032148	HP:0002574	Episodic abdominal pain	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0032148	HP:0002574	Episodic abdominal pain	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0032148	HP:0002574	Episodic abdominal pain	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0032148	HP:0002574	Episodic abdominal pain	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0032148	HP:0002574	Episodic abdominal pain	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0032148	HP:0002574	Episodic abdominal pain	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0032148	HP:0002574	Episodic abdominal pain	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0032148	HP:0002574	Episodic abdominal pain	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0032148	HP:0002574	Episodic abdominal pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0032148	HP:0002574	Episodic abdominal pain	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0032148	HP:0002574	Episodic abdominal pain	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0032148	HP:0002574	Episodic abdominal pain	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0032148	HP:0002574	Episodic abdominal pain	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0032148	HP:0002574	Episodic abdominal pain	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0032148	HP:0002574	Episodic abdominal pain	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0032148	HP:0002574	Episodic abdominal pain	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0032148	HP:0002574	Episodic abdominal pain	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0032148	HP:0002574	Episodic abdominal pain	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0032148	HP:0002574	Episodic abdominal pain	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0032148	HP:0002574	Episodic abdominal pain	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0032148	HP:0002574	Episodic abdominal pain	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0032148	HP:0002574	Episodic abdominal pain	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional	60
HP:0032148	HP:0002574	Episodic abdominal pain	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0032148	HP:0002574	Episodic abdominal pain	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent	129
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0032148	HP:0002574	Episodic abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0032148	HP:0002574	Episodic abdominal pain	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0032148	HP:0002574	Episodic abdominal pain	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0032148	HP:0002574	Episodic abdominal pain	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0032148	HP:0002574	Episodic abdominal pain	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0032148	HP:0002574	Episodic abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0032148	HP:0002574	Episodic abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490

Genes (39) :ATRX CDC73 CDKN1B CPT2 DAXX DLST DNMT3A EPAS1 ERBB3 ESR1 F12 FH FLI1 GNE HEXB KIF1B LEMD3 LPL MAX MC2R MDH2 MEFV MRAP NF1 NNT PIGA PNPT1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 STAR TGFBI TMEM127 TXNRD2 VHL

Diseases (21) :ORPHA:100075 ORPHA:99880 ORPHA:143 ORPHA:276152 ORPHA:228305 ORPHA:29072 ORPHA:276621 OMIM:243180 ORPHA:785 OMIM:610618 ORPHA:370348 ORPHA:3166 OMIM:268800 ORPHA:166119 OMIM:238600 ORPHA:361 OMIM:249100 ORPHA:447 ORPHA:101111 ORPHA:100093 ORPHA:98960

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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