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
..Vomiting (HP:0002013)

Term ID:

2013

Name:

Vomiting

Synonym:

Emesis; Throwing up; Vomiting

Definition:

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.

Comments:

Reference:

HP:0002013

Genes and Diseases:

Child Nodes:

........

Episodic vomiting (HP:0002572)

........

Projectile vomiting (HP:0002587)

........

Feculent vomiting (HP:0025089)

Sister Nodes:

Nausea (HP:0002018)

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:0002013	HP:0002013	Vomiting	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0002013	HP:0002013	Vomiting	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0002013	HP:0002013	Vomiting	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0002013	HP:0002013	Vomiting	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	58
HP:0002013	HP:0002013	Vomiting	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0002013	HP:0002013	Vomiting	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0002013	HP:0002013	Vomiting	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002013	HP:0002013	Vomiting	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002013	HP:0002013	Vomiting	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.	91
HP:0002013	HP:0002013	Vomiting	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent	91
HP:0002013	HP:0002013	Vomiting	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0002013	HP:0002013	Vomiting	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.	68
HP:0002013	HP:0002013	Vomiting	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0002013	HP:0002013	Vomiting	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional	13
HP:0002013	HP:0002013	Vomiting	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0002013	HP:0002013	Vomiting	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0002013	HP:0002013	Vomiting	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0002013	HP:0002013	Vomiting	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0002013	HP:0002013	Vomiting	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0002013	HP:0002013	Vomiting	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002013	HP:0002013	Vomiting	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0002013	HP:0002013	Vomiting	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002013	HP:0002013	Vomiting	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0002013	HP:0002013	Vomiting	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG		41
HP:0002013	HP:0002013	Vomiting	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0002013	HP:0002013	Vomiting	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0002013	HP:0002013	Vomiting	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0002013	HP:0002013	Vomiting	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0002013	HP:0002013	Vomiting	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002013	HP:0002013	Vomiting	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0002013	HP:0002013	Vomiting	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040283 - Occasional	132
HP:0002013	HP:0002013	Vomiting	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0002013	HP:0002013	Vomiting	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0002013	HP:0002013	Vomiting	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0002013	HP:0002013	Vomiting	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002013	HP:0002013	Vomiting	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.	75
HP:0002013	HP:0002013	Vomiting	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0002013	HP:0002013	Vomiting	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0002013	HP:0002013	Vomiting	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0002013	HP:0002013	Vomiting	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0002013	HP:0002013	Vomiting	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0002013	HP:0002013	Vomiting	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0002013	HP:0002013	Vomiting	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	239
HP:0002013	HP:0002013	Vomiting	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	150
HP:0002013	HP:0002013	Vomiting	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0002013	HP:0002013	Vomiting	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002013	HP:0002013	Vomiting	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0002013	HP:0002013	Vomiting	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent	22
HP:0002013	HP:0002013	Vomiting	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0002013	HP:0002013	Vomiting	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0002013	HP:0002013	Vomiting	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0002013	HP:0002013	Vomiting	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0002013	HP:0002013	Vomiting	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0002013	HP:0002013	Vomiting	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	53
HP:0002013	HP:0002013	Vomiting	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0002013	HP:0002013	Vomiting	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	449
HP:0002013	HP:0002013	Vomiting	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent	449
HP:0002013	HP:0002013	Vomiting	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002013	HP:0002013	Vomiting	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002013	HP:0002013	Vomiting	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation		37
HP:0002013	HP:0002013	Vomiting	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0002013	HP:0002013	Vomiting	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0002013	HP:0002013	Vomiting	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002013	HP:0002013	Vomiting	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0002013	HP:0002013	Vomiting	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0002013	HP:0002013	Vomiting	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002013	HP:0002013	Vomiting	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0002013	HP:0002013	Vomiting	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002013	HP:0002013	Vomiting	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002013	HP:0002013	Vomiting	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002013	HP:0002013	Vomiting	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002013	HP:0002013	Vomiting	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0002013	HP:0002013	Vomiting	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0002013	HP:0002013	Vomiting	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002013	HP:0002013	Vomiting	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0002013	HP:0002013	Vomiting	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0002013	HP:0002013	Vomiting	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	9
HP:0002013	HP:0002013	Vomiting	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	27
HP:0002013	HP:0002013	Vomiting	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	HP:0040283 - Occasional	7
HP:0002013	HP:0002013	Vomiting	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0002013	HP:0002013	Vomiting	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	678
HP:0002013	HP:0002013	Vomiting	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	18
HP:0002013	HP:0002013	Vomiting	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	660
HP:0002013	HP:0002013	Vomiting	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	325
HP:0002013	HP:0002013	Vomiting	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0002013	HP:0002013	Vomiting	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0002013	HP:0002013	Vomiting	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0002013	HP:0002013	Vomiting	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0002013	HP:0002013	Vomiting	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0002013	HP:0002013	Vomiting	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0002013	HP:0002013	Vomiting	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0002013	HP:0002013	Vomiting	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002013	HP:0002013	Vomiting	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	88
HP:0002013	HP:0002013	Vomiting	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0002013	HP:0002013	Vomiting	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0002013	HP:0002013	Vomiting	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0002013	HP:0002013	Vomiting	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0002013	HP:0002013	Vomiting	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0002013	HP:0002013	Vomiting	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0002013	HP:0002013	Vomiting	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0002013	HP:0002013	Vomiting	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0002013	HP:0002013	Vomiting	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0002013	HP:0002013	Vomiting	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0002013	HP:0002013	Vomiting	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0002013	HP:0002013	Vomiting	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0002013	HP:0002013	Vomiting	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0002013	HP:0002013	Vomiting	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0002013	HP:0002013	Vomiting	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0002013	HP:0002013	Vomiting	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002013	HP:0002013	Vomiting	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002013	HP:0002013	Vomiting	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0002013	HP:0002013	Vomiting	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0002013	HP:0002013	Vomiting	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002013	HP:0002013	Vomiting	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040281 - Very frequent	89
HP:0002013	HP:0002013	Vomiting	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002013	HP:0002013	Vomiting	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0002013	HP:0002013	Vomiting	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0002013	HP:0002013	Vomiting	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002013	HP:0002013	Vomiting	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0002013	HP:0002013	Vomiting	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0002013	HP:0002013	Vomiting	0	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	3
HP:0002013	HP:0002013	Vomiting	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002013	HP:0002013	Vomiting	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002013	HP:0002013	Vomiting	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002013	HP:0002013	Vomiting	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0002013	HP:0002013	Vomiting	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0002013	HP:0002013	Vomiting	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0002013	HP:0002013	Vomiting	0	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	13
HP:0002013	HP:0002013	Vomiting	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0002013	HP:0002013	Vomiting	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0002013	HP:0002013	Vomiting	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0002013	HP:0002013	Vomiting	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0002013	HP:0002013	Vomiting	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002013	HP:0002013	Vomiting	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002013	HP:0002013	Vomiting	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002013	HP:0002013	Vomiting	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0002013	HP:0002013	Vomiting	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002013	HP:0002013	Vomiting	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0002013	HP:0002013	Vomiting	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0002013	HP:0002013	Vomiting	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002013	HP:0002013	Vomiting	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0002013	HP:0002013	Vomiting	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0002013	HP:0002013	Vomiting	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0002013	HP:0002013	Vomiting	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002013	HP:0002013	Vomiting	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002013	HP:0002013	Vomiting	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0002013	HP:0002013	Vomiting	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0002013	HP:0002013	Vomiting	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002013	HP:0002013	Vomiting	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0002013	HP:0002013	Vomiting	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0002013	HP:0002013	Vomiting	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0002013	HP:0002013	Vomiting	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0002013	HP:0002013	Vomiting	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.	52
HP:0002013	HP:0002013	Vomiting	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0002013	HP:0002013	Vomiting	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0002013	HP:0002013	Vomiting	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0002013	HP:0002013	Vomiting	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0002013	HP:0002013	Vomiting	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002013	HP:0002013	Vomiting	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0002013	HP:0002013	Vomiting	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0002013	HP:0002013	Vomiting	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002013	HP:0002013	Vomiting	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0002013	HP:0002013	Vomiting	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002013	HP:0002013	Vomiting	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent	37
HP:0002013	HP:0002013	Vomiting	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0002013	HP:0002013	Vomiting	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002013	HP:0002013	Vomiting	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002013	HP:0002013	Vomiting	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0002013	HP:0002013	Vomiting	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0002013	HP:0002013	Vomiting	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002013	HP:0002013	Vomiting	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0002013	HP:0002013	Vomiting	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.	38
HP:0002013	HP:0002013	Vomiting	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040281 - Very frequent	32
HP:0002013	HP:0002013	Vomiting	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002013	HP:0002013	Vomiting	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002013	HP:0002013	Vomiting	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0002013	HP:0002013	Vomiting	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002013	HP:0002013	Vomiting	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0002013	HP:0002013	Vomiting	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0002013	HP:0002013	Vomiting	0	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency	.	42
HP:0002013	HP:0002013	Vomiting	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0002013	HP:0002013	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		8
HP:0002013	HP:0002013	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		8
HP:0002013	HP:0002013	Vomiting	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0002013	HP:0002013	Vomiting	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0002013	HP:0002013	Vomiting	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0002013	HP:0002013	Vomiting	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0002013	HP:0002013	Vomiting	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0002013	HP:0002013	Vomiting	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002013	HP:0002013	Vomiting	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002013	HP:0002013	Vomiting	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0002013	HP:0002013	Vomiting	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0002013	HP:0002013	Vomiting	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0002013	HP:0002013	Vomiting	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation		92
HP:0002013	HP:0002013	Vomiting	0	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA		5
HP:0002013	HP:0002013	Vomiting	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0002013	HP:0002013	Vomiting	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0002013	HP:0002013	Vomiting	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0002013	HP:0002013	Vomiting	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002013	HP:0002013	Vomiting	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0002013	HP:0002013	Vomiting	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002013	HP:0002013	Vomiting	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0002013	HP:0002013	Vomiting	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002013	HP:0002013	Vomiting	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0002013	HP:0002013	Vomiting	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0002013	HP:0002013	Vomiting	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0002013	HP:0002013	Vomiting	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002013	HP:0002013	Vomiting	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0002013	HP:0002013	Vomiting	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002013	HP:0002013	Vomiting	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0002013	HP:0002013	Vomiting	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	375
HP:0002013	HP:0002013	Vomiting	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.	80
HP:0002013	HP:0002013	Vomiting	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0002013	HP:0002013	Vomiting	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0002013	HP:0002013	Vomiting	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0002013	HP:0002013	Vomiting	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0002013	HP:0002013	Vomiting	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0002013	HP:0002013	Vomiting	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0002013	HP:0002013	Vomiting	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0002013	HP:0002013	Vomiting	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0002013	HP:0002013	Vomiting	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040283 - Occasional	45
HP:0002013	HP:0002013	Vomiting	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0002013	HP:0002013	Vomiting	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0002013	HP:0002013	Vomiting	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0002013	HP:0002013	Vomiting	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002013	HP:0002013	Vomiting	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0002013	HP:0002013	Vomiting	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0002013	HP:0002013	Vomiting	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040282 - Frequent	36
HP:0002013	HP:0002013	Vomiting	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0002013	HP:0002013	Vomiting	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0002013	HP:0002013	Vomiting	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0002013	HP:0002013	Vomiting	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0002013	HP:0002013	Vomiting	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002013	HP:0002013	Vomiting	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002013	HP:0002013	Vomiting	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002013	HP:0002013	Vomiting	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0002013	HP:0002013	Vomiting	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0002013	HP:0002013	Vomiting	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0002013	HP:0002013	Vomiting	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0002013	HP:0002013	Vomiting	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0002013	HP:0002013	Vomiting	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0002013	HP:0002013	Vomiting	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0002013	HP:0002013	Vomiting	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0002013	HP:0002013	Vomiting	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002013	HP:0002013	Vomiting	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002013	HP:0002013	Vomiting	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0002013	HP:0002013	Vomiting	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0002013	HP:0002013	Vomiting	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0002013	HP:0002013	Vomiting	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0002013	HP:0002013	Vomiting	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0002013	HP:0002013	Vomiting	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0002013	HP:0002013	Vomiting	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0002013	HP:0002013	Vomiting	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0002013	HP:0002013	Vomiting	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0002013	HP:0002013	Vomiting	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0002013	HP:0002013	Vomiting	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0002013	HP:0002013	Vomiting	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0002013	HP:0002013	Vomiting	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0002013	HP:0002013	Vomiting	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.	74
HP:0002013	HP:0002013	Vomiting	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0002013	HP:0002013	Vomiting	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0002013	HP:0002013	Vomiting	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent	5
HP:0002013	HP:0002013	Vomiting	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002013	HP:0002013	Vomiting	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0002013	HP:0002013	Vomiting	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002013	HP:0002013	Vomiting	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0002013	HP:0002013	Vomiting	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002013	HP:0002013	Vomiting	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0002013	HP:0002013	Vomiting	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0002013	HP:0002013	Vomiting	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002013	HP:0002013	Vomiting	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002013	HP:0002013	Vomiting	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0002013	HP:0002013	Vomiting	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002013	HP:0002013	Vomiting	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0002013	HP:0002013	Vomiting	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0002013	HP:0002013	Vomiting	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0002013	HP:0002013	Vomiting	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency	.	52
HP:0002013	HP:0002013	Vomiting	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0002013	HP:0002013	Vomiting	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0002013	HP:0002013	Vomiting	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation		21
HP:0002013	HP:0002013	Vomiting	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0002013	HP:0002013	Vomiting	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0002013	HP:0002013	Vomiting	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002013	HP:0002013	Vomiting	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent	37
HP:0002013	HP:0002013	Vomiting	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:0002013	HP:0002013	Vomiting	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002013	HP:0002013	Vomiting	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:0002013	HP:0002013	Vomiting	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0002013	HP:0002013	Vomiting	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0002013	HP:0002013	Vomiting	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0002013	HP:0002013	Vomiting	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0002013	HP:0002013	Vomiting	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0002013	HP:0002013	Vomiting	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0002013	HP:0002013	Vomiting	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0002013	HP:0002013	Vomiting	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional	60
HP:0002013	HP:0002013	Vomiting	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0002013	HP:0002013	Vomiting	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0002013	HP:0002013	Vomiting	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0002013	HP:0002013	Vomiting	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0002013	HP:0002013	Vomiting	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.	41
HP:0002013	HP:0002013	Vomiting	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0002013	HP:0002013	Vomiting	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0002013	HP:0002013	Vomiting	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0002013	HP:0002013	Vomiting	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0002013	HP:0002013	Vomiting	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0002013	HP:0002013	Vomiting	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0002013	HP:0002013	Vomiting	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0002013	HP:0002013	Vomiting	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0002013	HP:0002013	Vomiting	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional	1
HP:0002013	HP:0002013	Vomiting	0	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1	.	572
HP:0002013	HP:0002013	Vomiting	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0002013	HP:0002013	Vomiting	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0002013	HP:0002013	Vomiting	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0002013	HP:0002013	Vomiting	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0002013	HP:0002013	Vomiting	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0002013	HP:0002013	Vomiting	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040282 - Frequent	8
HP:0002013	HP:0002013	Vomiting	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0002013	HP:0002013	Vomiting	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	67
HP:0002013	HP:0002013	Vomiting	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0002013	HP:0002013	Vomiting	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	61
HP:0002013	HP:0002013	Vomiting	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	57
HP:0002013	HP:0002013	Vomiting	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0002013	HP:0002013	Vomiting	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040282 - Frequent	64
HP:0002013	HP:0002013	Vomiting	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002013	HP:0002013	Vomiting	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0002013	HP:0002013	Vomiting	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0002013	HP:0002013	Vomiting	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0002013	HP:0002013	Vomiting	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0002013	HP:0002013	Vomiting	0	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency	HP:0040282 - Frequent	98
HP:0002013	HP:0002013	Vomiting	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002013	HP:0002013	Vomiting	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0002013	HP:0002013	Vomiting	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0002013	HP:0002013	Vomiting	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002013	HP:0002013	Vomiting	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0002013	HP:0002013	Vomiting	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0002013	HP:0002013	Vomiting	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002013	HP:0002013	Vomiting	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	63
HP:0002013	HP:0002013	Vomiting	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0002013	HP:0002013	Vomiting	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0002013	HP:0002013	Vomiting	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0002013	HP:0002013	Vomiting	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent	207
HP:0002013	HP:0002013	Vomiting	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0002013	HP:0002013	Vomiting	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0002013	HP:0002013	Vomiting	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0002013	HP:0002013	Vomiting	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0002013	HP:0002013	Vomiting	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0002013	HP:0002013	Vomiting	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040283 - Occasional	74
HP:0002013	HP:0002013	Vomiting	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002013	HP:0002013	Vomiting	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0002013	HP:0002013	Vomiting	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0002013	HP:0002013	Vomiting	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002013	HP:0002013	Vomiting	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0002013	HP:0002013	Vomiting	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0002013	HP:0002013	Vomiting	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0002013	HP:0002013	Vomiting	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002013	HP:0002013	Vomiting	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent	12
HP:0002013	HP:0002013	Vomiting	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0002013	HP:0002013	Vomiting	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002013	HP:0002013	Vomiting	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002013	HP:0002013	Vomiting	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0002013	HP:0002013	Vomiting	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0002013	HP:0002013	Vomiting	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0002013	HP:0002013	Vomiting	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0002013	HP:0002013	Vomiting	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0002013	HP:0002013	Vomiting	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0002013	HP:0002013	Vomiting	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0002013	HP:0002013	Vomiting	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0002013	HP:0002013	Vomiting	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0002013	HP:0002013	Vomiting	0	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	.	8
HP:0002013	HP:0002013	Vomiting	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0002013	HP:0002013	Vomiting	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002013	HP:0002013	Vomiting	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent	1
HP:0002013	HP:0002013	Vomiting	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0002013	HP:0002013	Vomiting	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002013	HP:0002013	Vomiting	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0002013	HP:0002013	Vomiting	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0002013	HP:0002013	Vomiting	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002013	HP:0002013	Vomiting	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002013	HP:0002013	Vomiting	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0002013	HP:0002013	Vomiting	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0002013	HP:0002013	Vomiting	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002013	HP:0002013	Vomiting	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0002013	HP:0002013	Vomiting	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0002013	HP:0002013	Vomiting	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0002013	HP:0002013	Vomiting	0	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	7
HP:0002013	HP:0002013	Vomiting	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002013	HP:0002013	Vomiting	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0002013	HP:0002013	Vomiting	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002013	HP:0002013	Vomiting	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	.	911
HP:0002013	HP:0002013	Vomiting	0	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency		2
HP:0002013	HP:0002013	Vomiting	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0002013	HP:0002013	Vomiting	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002013	HP:0002013	Vomiting	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002013	HP:0002013	Vomiting	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002013	HP:0002013	Vomiting	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0002013	HP:0002013	Vomiting	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0002013	HP:0002013	Vomiting	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138
HP:0002013	HP:0002013	Vomiting	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002013	HP:0002013	Vomiting	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0002013	HP:0002013	Vomiting	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0002013	HP:0002013	Vomiting	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002013	HP:0002013	Vomiting	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0002013	HP:0002013	Vomiting	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002013	HP:0002013	Vomiting	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002013	HP:0002013	Vomiting	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional
HP:0002013	HP:0002013	Vomiting	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0002013	HP:0002013	Vomiting	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0002013	HP:0002013	Vomiting	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0002013	HP:0002013	Vomiting	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0002013	HP:0025089	Feculent vomiting	1	CL E G H
HP:0002013	HP:0002572	Episodic vomiting	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002013	HP:0002587	Projectile vomiting	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0002013	HP:0002572	Episodic vomiting	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0002013	HP:0002572	Episodic vomiting	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0002013	HP:0002587	Projectile vomiting	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0002013	HP:0002572	Episodic vomiting	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002013	HP:0002572	Episodic vomiting	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	37
HP:0002013	HP:0002572	Episodic vomiting	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002013	HP:0002572	Episodic vomiting	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002013	HP:0002572	Episodic vomiting	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0002013	HP:0002587	Projectile vomiting	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0002013	HP:0002572	Episodic vomiting	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0002013	HP:0002572	Episodic vomiting	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0002013	HP:0002572	Episodic vomiting	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0002013	HP:0002572	Episodic vomiting	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0002013	HP:0002572	Episodic vomiting	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002013	HP:0002572	Episodic vomiting	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0002013	HP:0002572	Episodic vomiting	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002013	HP:0002572	Episodic vomiting	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002013	HP:0002572	Episodic vomiting	1	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:0002013	HP:0002572	Episodic vomiting	1	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:0002013	HP:0002572	Episodic vomiting	1	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0002013	HP:0002572	Episodic vomiting	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	92
HP:0002013	HP:0002572	Episodic vomiting	1	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002013	HP:0002572	Episodic vomiting	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002013	HP:0002572	Episodic vomiting	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002013	HP:0002572	Episodic vomiting	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0002013	HP:0002572	Episodic vomiting	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002013	HP:0002572	Episodic vomiting	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002013	HP:0002572	Episodic vomiting	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002013	HP:0002572	Episodic vomiting	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	21
HP:0002013	HP:0002572	Episodic vomiting	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0002013	HP:0002572	Episodic vomiting	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0002013	HP:0002572	Episodic vomiting	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002013	HP:0002572	Episodic vomiting	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002013	HP:0002572	Episodic vomiting	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002013	HP:0002572	Episodic vomiting	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002013	HP:0002572	Episodic vomiting	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0002013	HP:0002587	Projectile vomiting	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0002013	HP:0002572	Episodic vomiting	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002013	HP:0002572	Episodic vomiting	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002013	HP:0002572	Episodic vomiting	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002013	HP:0002572	Episodic vomiting	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0002013	HP:0002572	Episodic vomiting	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0002013	HP:0002572	Episodic vomiting	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362

Genes (339) :AASS ABCC6 ABCC8 ACAD8 ACADM ACADVL ACAT1 ACSF3 ACTG2 ACY1 ADNP AIMP1 AIP ALAD ALDH18A1 ALDOB ALG11 ALG3 ALG8 ALG9 ALPL ALX4 AMN ANAPC1 ANO1 APC AQP2 ARG1 ASL ASPA ASS1 ASXL1 ASXL3 ATP1A2 ATP1A3 ATP6 ATP6V0A4 ATP7B ATRX AVP AVPR2 BCKDHA BCKDHB BOLA3 BRAF BSND BTD CACNA1A CARD8 CAV1 CCM2 CD46 CD55 CDC42BPB CDH23 CDK13 CDK8 CDKN1A CDKN1B CDKN2B CDKN2C CDON CFH CFI CLCNKA CLCNKB CLMP COA8 COL1A1 COL4A5 COL4A6 COL5A1 COL5A2 COQ2 COX1 COX2 COX3 CPOX CPS1 CPT2 CTNNB1 CTNS CTRC CUBN CYC1 CYP11A1 CYP11B2 CYP24A1 CYTB D2HGDH DBH DBT DGAT1 DGUOK DHCR7 DISP1 DLD DLL1 DOLK DYRK1A EDNRA EGFR ELN ELP1 ENPP1 EPCAM ERBB3 ESR1 ETFA ETFB ETFDH F12 FAH FARSB FBLN5 FBP1 FGF8 FGFR1 FLNA FOCAD FOXH1 FOXP3 FOXRED1 GALC GALE GALT GAMT GAN GAS1 GFAP GFM2 GHSR GK GLA GLI2 GRB10 HADH HELLPAR HFE HIBCH HLA-DQA1 HLA-DQB1 HLCS HMBS HMGCL HMGCS2 HNF4A HNRNPK HPRT1 HS3ST6 HSD3B2 IRAK1 ITGB4 IVD KARS1 KCNJ1 KCNJ11 KIT KMT2E KRIT1 KYNU LAMA3 LAMB3 LAMC2 LBX1 LIG3 LIPA LPL MARS1 MC2R MCCC1 MCCC2 MED12 MEFV MEN1 MET MLYCD MMAA MMAB MMUT MPI MPV17 MRAP MRPS7 MSX2 MTHFD1 MTRR MTTP MVK NAA10 NAGS NARS2 NAXD NBAS ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROG3 NEXMIF NFIX NLRC4 NNT NODAL NOTCH2NLC NR3C2 NSD1 NUBPL OPLAH OTC OXCT1 PCCA PCCB PDCD10 PDSS2 PERCC1 PGM1 PHGDH PHKA2 PHKB PHKG2 PIGY PKHD1 PLCH1 PLEC PMM2 PNPLA8 PNPT1 POLG PPM1D PPOX PSAP PTCH1 PYCR2 RANBP2 RARS1 RECQL4 RELA RET RRM2B RYR1 SAA1 SAR1B SCN2A SCNN1A SCNN1B SCNN1G SERPING1 SHANK3 SHH SI SIX3 SLC12A1 SLC12A3 SLC19A3 SLC1A3 SLC22A12 SLC22A5 SLC25A13 SLC25A15 SLC2A9 SLC37A4 SLC5A1 SLC5A6 SLC6A8 SLC7A7 SMC1A SMPD1 SPINK1 SPP1 SPTBN1 SSR4 ST3GAL5 STAG2 STAR STAT4 STIL STK11 STX3 SUCLG1 SUGCT SUOX SYK SYT1 TCN2 TDGF1 TGIF1 TIMM22 TIMMDC1 TMEM126B TNF TNFRSF1A TOM1 TP53 TREH TRMU TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TXNRD2 TYMP UNC45A UQCC2 UQCRC2 YARS1 ZEB2 ZFTA ZIC2

Diseases (270) :ORPHA:2203 ORPHA:51608 ORPHA:79134 ORPHA:79159 OMIM:201450 ORPHA:42 ORPHA:26793 OMIM:201475 OMIM:203750 ORPHA:134 ORPHA:289504 OMIM:614265 OMIM:155310 ORPHA:137754 ORPHA:404448 OMIM:260600 ORPHA:2965 ORPHA:100924 OMIM:612740 ORPHA:90348 OMIM:601162 OMIM:229600 ORPHA:469 ORPHA:280071 OMIM:613661 OMIM:601110 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:241500 ORPHA:60015 ORPHA:35858 ORPHA:221008 OMIM:620045 ORPHA:99818 OMIM:125800 OMIM:207800 OMIM:207900 ORPHA:314911 OMIM:215700 ORPHA:97297 OMIM:615485 ORPHA:2131 ORPHA:255210 OMIM:602722 OMIM:277900 OMIM:309580 ORPHA:30925 OMIM:304800 OMIM:248600 OMIM:614299 OMIM:115150 ORPHA:89938 OMIM:253260 ORPHA:71518 OMIM:619079 OMIM:606721 ORPHA:221061 ORPHA:244242 OMIM:226300 OMIM:619841 ORPHA:91347 OMIM:617360 OMIM:618748 ORPHA:652 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:615237 ORPHA:436271 ORPHA:287 ORPHA:1018 OMIM:607426 ORPHA:255249 ORPHA:550 OMIM:540000 OMIM:121300 OMIM:618892 ORPHA:79273 OMIM:237300 OMIM:600649 OMIM:608836 ORPHA:33402 ORPHA:411629 ORPHA:411634 ORPHA:103918 OMIM:615453 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:143880 ORPHA:137675 OMIM:600721 ORPHA:230 OMIM:615863 OMIM:251880 OMIM:270400 ORPHA:2394 OMIM:610768 ORPHA:464311 OMIM:157300 OMIM:616069 OMIM:223900 ORPHA:92050 OMIM:243180 OMIM:231680 OMIM:610618 OMIM:276700 OMIM:613658 ORPHA:348 OMIM:300048 OMIM:619991 ORPHA:37042 ORPHA:2609 ORPHA:206436 OMIM:245200 OMIM:230350 ORPHA:79239 OMIM:230400 OMIM:612736 OMIM:256850 ORPHA:363717 ORPHA:565624 ORPHA:314811 OMIM:307030 OMIM:301500 ORPHA:96182 ORPHA:71212 OMIM:176200 ORPHA:88639 OMIM:212750 OMIM:253270 OMIM:176000 ORPHA:20 OMIM:246450 OMIM:605911 ORPHA:263455 ORPHA:352665 ORPHA:453504 OMIM:300322 OMIM:619367 ORPHA:90791 ORPHA:93552 ORPHA:158684 OMIM:243500 OMIM:619147 OMIM:241200 ORPHA:79455 OMIM:618512 OMIM:236800 ORPHA:79404 OMIM:619483 ORPHA:298 OMIM:278000 OMIM:238600 OMIM:615486 ORPHA:361 OMIM:210200 OMIM:210210 OMIM:301068 OMIM:249100 OMIM:248360 OMIM:251100 OMIM:251110 OMIM:251000 OMIM:602579 ORPHA:79319 OMIM:256810 OMIM:617872 OMIM:617780 ORPHA:2169 ORPHA:14 OMIM:260920 OMIM:610377 OMIM:300855 ORPHA:927 OMIM:237310 OMIM:618321 OMIM:616483 OMIM:618226 OMIM:252010 OMIM:618225 OMIM:610370 ORPHA:83620 OMIM:300912 ORPHA:447980 OMIM:616050 OMIM:603472 OMIM:177735 OMIM:117550 OMIM:260005 OMIM:311250 OMIM:245050 OMIM:606054 OMIM:614921 ORPHA:79351 ORPHA:264580 ORPHA:79240 OMIM:616809 ORPHA:53035 OMIM:212065 ORPHA:79318 OMIM:251950 OMIM:608703 ORPHA:101111 OMIM:603041 OMIM:203700 OMIM:617450 ORPHA:481152 ORPHA:88619 ORPHA:438114 ORPHA:221016 ORPHA:251636 OMIM:142623 OMIM:612075 ORPHA:466650 ORPHA:85445 OMIM:246700 ORPHA:71 OMIM:618924 ORPHA:171876 OMIM:264350 OMIM:106100 ORPHA:100050 OMIM:606232 ORPHA:35122 OMIM:601678 OMIM:263800 OMIM:607483 OMIM:612656 ORPHA:94088 OMIM:212140 ORPHA:158 ORPHA:247585 ORPHA:415 OMIM:238970 OMIM:619525 ORPHA:35710 OMIM:618973 OMIM:300352 OMIM:222700 ORPHA:470 OMIM:257200 OMIM:619475 ORPHA:370927 OMIM:609056 ORPHA:2869 OMIM:619445 ORPHA:17 OMIM:231690 OMIM:272300 OMIM:619381 ORPHA:522077 OMIM:275350 OMIM:618851 OMIM:142680 ORPHA:32960 OMIM:619510 OMIM:260500 ORPHA:103909 OMIM:613070 OMIM:619377 OMIM:615824 OMIM:615160 OMIM:619418 OMIM:235730 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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