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:
Nausea and vomiting (HP:0002017)

Parent Node:
Vomiting (HP:0002013)

..Starting node
..Episodic vomiting (HP:0002572)

Term ID:

2572

Name:

Episodic vomiting

Synonym:

Episodic vomiting; Frequent vomiting

Definition:

Paroxysmal, recurrent episodes of vomiting.

Comments:

Reference:

HP:0002572

Genes and Diseases:

Child Nodes:

Sister Nodes:

Feculent vomiting (HP:0025089)

Projectile vomiting (HP:0002587)

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:0002572	HP:0002572	Episodic vomiting	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002572	HP:0002572	Episodic vomiting	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0002572	HP:0002572	Episodic vomiting	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0002572	HP:0002572	Episodic vomiting	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002572	HP:0002572	Episodic vomiting	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	37
HP:0002572	HP:0002572	Episodic vomiting	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002572	HP:0002572	Episodic vomiting	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002572	HP:0002572	Episodic vomiting	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0002572	HP:0002572	Episodic vomiting	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0002572	HP:0002572	Episodic vomiting	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0002572	HP:0002572	Episodic vomiting	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0002572	HP:0002572	Episodic vomiting	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0002572	HP:0002572	Episodic vomiting	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002572	HP:0002572	Episodic vomiting	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0002572	HP:0002572	Episodic vomiting	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002572	HP:0002572	Episodic vomiting	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002572	HP:0002572	Episodic vomiting	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0002572	HP:0002572	Episodic vomiting	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0002572	HP:0002572	Episodic vomiting	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0002572	HP:0002572	Episodic vomiting	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	92
HP:0002572	HP:0002572	Episodic vomiting	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002572	HP:0002572	Episodic vomiting	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002572	HP:0002572	Episodic vomiting	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002572	HP:0002572	Episodic vomiting	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0002572	HP:0002572	Episodic vomiting	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002572	HP:0002572	Episodic vomiting	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002572	HP:0002572	Episodic vomiting	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002572	HP:0002572	Episodic vomiting	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	21
HP:0002572	HP:0002572	Episodic vomiting	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0002572	HP:0002572	Episodic vomiting	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0002572	HP:0002572	Episodic vomiting	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002572	HP:0002572	Episodic vomiting	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002572	HP:0002572	Episodic vomiting	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002572	HP:0002572	Episodic vomiting	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002572	HP:0002572	Episodic vomiting	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0002572	HP:0002572	Episodic vomiting	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002572	HP:0002572	Episodic vomiting	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002572	HP:0002572	Episodic vomiting	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002572	HP:0002572	Episodic vomiting	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0002572	HP:0002572	Episodic vomiting	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0002572	HP:0002572	Episodic vomiting	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362

Genes (55) :ACADVL ALAD ALG11 ARG1 ATP6 CCM2 CDC42BPB CDK13 CDK8 COQ2 COX1 COX2 COX3 CPOX CYTB D2HGDH FAH GAMT GK HMGCL HNRNPK HS3ST6 KRIT1 LBX1 NAXD ND1 ND2 ND3 ND4 ND5 ND6 NEXMIF NFIX NLRC4 NOTCH2NLC NSD1 PDCD10 PDSS2 PNPLA8 SHANK3 SLC25A15 SLC5A6 SUOX TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW UNC45A UQCRC2 ZEB2

Diseases (38) :OMIM:201475 ORPHA:100924 ORPHA:280071 OMIM:207800 ORPHA:255210 ORPHA:221061 OMIM:619841 OMIM:617360 OMIM:618748 OMIM:607426 ORPHA:255249 OMIM:540000 ORPHA:79273 OMIM:600721 OMIM:276700 OMIM:612736 OMIM:307030 ORPHA:20 ORPHA:352665 ORPHA:453504 OMIM:619367 OMIM:619483 OMIM:618321 OMIM:300912 ORPHA:447980 OMIM:616050 OMIM:603472 OMIM:117550 OMIM:251950 OMIM:606232 ORPHA:415 OMIM:238970 OMIM:618973 OMIM:272300 OMIM:619377 OMIM:615160 ORPHA:261552 ORPHA:261537

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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