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:
Abdominal symptom (HP:0011458)

Parent Node:
Nausea and vomiting (HP:0002017)

..Starting node
..Nausea (HP:0002018)

Term ID:

2018

Name:

Nausea

Synonym:

Nausea

Definition:

A sensation of unease in the stomach together with an urge to vomit.

Comments:

Reference:

HP:0002018

Genes and Diseases:

Child Nodes:

Sister Nodes:

Vomiting (HP:0002013)

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:0002018	HP:0002018	Nausea	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0002018	HP:0002018	Nausea	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002018	HP:0002018	Nausea	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040282 - Frequent	73
HP:0002018	HP:0002018	Nausea	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002018	HP:0002018	Nausea	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002018	HP:0002018	Nausea	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0002018	HP:0002018	Nausea	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040283 - Occasional	51
HP:0002018	HP:0002018	Nausea	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0002018	HP:0002018	Nausea	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002018	HP:0002018	Nausea	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002018	HP:0002018	Nausea	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002018	HP:0002018	Nausea	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002018	HP:0002018	Nausea	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0002018	HP:0002018	Nausea	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0002018	HP:0002018	Nausea	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional	44
HP:0002018	HP:0002018	Nausea	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0002018	HP:0002018	Nausea	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	660
HP:0002018	HP:0002018	Nausea	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	325
HP:0002018	HP:0002018	Nausea	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0002018	HP:0002018	Nausea	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0002018	HP:0002018	Nausea	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	112
HP:0002018	HP:0002018	Nausea	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	73
HP:0002018	HP:0002018	Nausea	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0002018	HP:0002018	Nausea	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002018	HP:0002018	Nausea	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0002018	HP:0002018	Nausea	0	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	3
HP:0002018	HP:0002018	Nausea	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0002018	HP:0002018	Nausea	0	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	13
HP:0002018	HP:0002018	Nausea	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0002018	HP:0002018	Nausea	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0002018	HP:0002018	Nausea	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0002018	HP:0002018	Nausea	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0002018	HP:0002018	Nausea	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0002018	HP:0002018	Nausea	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0002018	HP:0002018	Nausea	0	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome	.	50
HP:0002018	HP:0002018	Nausea	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002018	HP:0002018	Nausea	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0002018	HP:0002018	Nausea	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002018	HP:0002018	Nausea	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0002018	HP:0002018	Nausea	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002018	HP:0002018	Nausea	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0002018	HP:0002018	Nausea	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional	128
HP:0002018	HP:0002018	Nausea	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0002018	HP:0002018	Nausea	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0002018	HP:0002018	Nausea	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002018	HP:0002018	Nausea	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0002018	HP:0002018	Nausea	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0002018	HP:0002018	Nausea	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002018	HP:0002018	Nausea	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0002018	HP:0002018	Nausea	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0002018	HP:0002018	Nausea	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002018	HP:0002018	Nausea	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional	11
HP:0002018	HP:0002018	Nausea	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0002018	HP:0002018	Nausea	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040282 - Frequent	36
HP:0002018	HP:0002018	Nausea	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0002018	HP:0002018	Nausea	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0002018	HP:0002018	Nausea	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0002018	HP:0002018	Nausea	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0002018	HP:0002018	Nausea	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002018	HP:0002018	Nausea	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0002018	HP:0002018	Nausea	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0002018	HP:0002018	Nausea	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0002018	HP:0002018	Nausea	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002018	HP:0002018	Nausea	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0002018	HP:0002018	Nausea	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0002018	HP:0002018	Nausea	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0002018	HP:0002018	Nausea	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0002018	HP:0002018	Nausea	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0002018	HP:0002018	Nausea	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0002018	HP:0002018	Nausea	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0002018	HP:0002018	Nausea	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0002018	HP:0002018	Nausea	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0002018	HP:0002018	Nausea	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0002018	HP:0002018	Nausea	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0002018	HP:0002018	Nausea	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0002018	HP:0002018	Nausea	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0002018	HP:0002018	Nausea	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0002018	HP:0002018	Nausea	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0002018	HP:0002018	Nausea	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0002018	HP:0002018	Nausea	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040282 - Frequent	64
HP:0002018	HP:0002018	Nausea	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0002018	HP:0002018	Nausea	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0002018	HP:0002018	Nausea	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0002018	HP:0002018	Nausea	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0002018	HP:0002018	Nausea	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0002018	HP:0002018	Nausea	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002018	HP:0002018	Nausea	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0002018	HP:0002018	Nausea	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002018	HP:0002018	Nausea	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0002018	HP:0002018	Nausea	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002018	HP:0002018	Nausea	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0002018	HP:0002018	Nausea	0	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	7
HP:0002018	HP:0002018	Nausea	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	.	911
HP:0002018	HP:0002018	Nausea	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138
HP:0002018	HP:0002018	Nausea	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0002018	HP:0002018	Nausea	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0002018	HP:0002018	Nausea	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0002018	HP:0002018	Nausea	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8

Genes (90) :ALAD ALDOB APC ASXL1 ATP1A2 CACNA1D CD46 CDKN1A CDKN1B CDKN2B CDKN2C CFH CFI CLCN2 COL1A1 COL5A1 COL5A2 CPOX CTRC CYP11B1 CYP11B2 DLST DNAJC6 DNMT3A EDNRA EPAS1 ESR1 ETFA ETFB ETFDH EXT2 FH FSHR GLA HELLPAR HMBS HTRA2 IL18BP KCNA1 KCNJ5 KIF1B KIT LIG3 LPL LRRK2 MAX MDH2 MEN1 MGME1 NAGS NF1 NPPA PARK7 PHKA2 PHKB PHKG2 PINK1 PKHD1 PODXL POLG PPOX PRKN RET RRM2B RYR1 SAA1 SCN5A SDHA SDHAF2 SDHB SDHC SDHD SERPING1 SLC1A3 SLC22A12 SLC25A11 SLC2A9 SLC7A7 SNCA SPINK1 SRSF2 SYNJ1 TET2 TMEM127 TNF TP53 TYMP UCHL1 VHL VPS13C

Diseases (45) :ORPHA:100924 OMIM:229600 ORPHA:469 ORPHA:99818 ORPHA:98849 OMIM:602481 ORPHA:369929 ORPHA:244242 ORPHA:652 ORPHA:404 ORPHA:287 ORPHA:79273 ORPHA:103918 ORPHA:403 ORPHA:29072 ORPHA:2828 ORPHA:276621 OMIM:157300 OMIM:231680 ORPHA:466926 ORPHA:64739 OMIM:608115 OMIM:301500 OMIM:176000 OMIM:618549 ORPHA:37612 ORPHA:251274 ORPHA:79455 ORPHA:298 OMIM:238600 OMIM:615084 ORPHA:352447 ORPHA:927 ORPHA:1344 ORPHA:264580 ORPHA:79240 ORPHA:53035 ORPHA:79473 ORPHA:466650 ORPHA:85445 ORPHA:100050 OMIM:612656 ORPHA:94088 OMIM:222700 OMIM:260500

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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