Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the inner ear (HP:0000359)

Parent Node:
Functional abnormality of the inner ear (HP:0011389)

..Starting node
..Vestibular dysfunction (HP:0001751)

Term ID:

1751

Name:

Vestibular dysfunction

Synonym:

Impaired vestibular function; Interictal vestibular dysfunction; Vestibular function defect

Definition:

An abnormality of the functioning of the vestibular apparatus.

Comments:

Reference:

HP:0001751

Genes and Diseases:

Child Nodes:

........

Vestibular hypofunction (HP:0001756)

................... HP:0008555 Absent vestibular function

........

Vertigo (HP:0002321)

................... HP:0010532 Paroxysmal vertigo

........

Abnormal vestibulo-ocular reflex (HP:0007670)

................... HP:0008568 Vestibular areflexia
................... HP:0030183 Impaired visually enhanced vestibulo-ocular reflex

Sister Nodes:

Sensorineural hearing impairment (HP:0000407)

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:0001751	HP:0001751	Vestibular dysfunction	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome		22
HP:0001751	HP:0001751	Vestibular dysfunction	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0001751	HP:0001751	Vestibular dysfunction	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001751	HP:0001751	Vestibular dysfunction	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0001751	HP:0001751	Vestibular dysfunction	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0001751	HP:0001751	Vestibular dysfunction	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0001751	HP:0001751	Vestibular dysfunction	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0001751	HP:0001751	Vestibular dysfunction	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0001751	HP:0001751	Vestibular dysfunction	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0001751	HP:0001751	Vestibular dysfunction	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001751	HP:0001751	Vestibular dysfunction	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0001751	HP:0001751	Vestibular dysfunction	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy		449
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia		449
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6		449
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5		146
HP:0001751	HP:0001751	Vestibular dysfunction	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0001751	HP:0001751	Vestibular dysfunction	0	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		18
HP:0001751	HP:0001751	Vestibular dysfunction	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0001751	HP:0001751	Vestibular dysfunction	0	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		13
HP:0001751	HP:0001751	Vestibular dysfunction	0	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		16
HP:0001751	HP:0001751	Vestibular dysfunction	0	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		129
HP:0001751	HP:0001751	Vestibular dysfunction	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001751	HP:0001751	Vestibular dysfunction	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0001751	HP:0001751	Vestibular dysfunction	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0001751	HP:0001751	Vestibular dysfunction	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1		636
HP:0001751	HP:0001751	Vestibular dysfunction	0	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID	.	636
HP:0001751	HP:0001751	Vestibular dysfunction	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3		9
HP:0001751	HP:0001751	Vestibular dysfunction	0	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48		15
HP:0001751	HP:0001751	Vestibular dysfunction	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1		15
HP:0001751	HP:0001751	Vestibular dysfunction	0	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.	15
HP:0001751	HP:0001751	Vestibular dysfunction	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001751	HP:0001751	Vestibular dysfunction	0	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.	1
HP:0001751	HP:0001751	Vestibular dysfunction	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3		60
HP:0001751	HP:0001751	Vestibular dysfunction	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	HP:0040282 - Frequent	60
HP:0001751	HP:0001751	Vestibular dysfunction	0	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal		47
HP:0001751	HP:0001751	Vestibular dysfunction	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9		46
HP:0001751	HP:0001751	Vestibular dysfunction	0	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110	.	46
HP:0001751	HP:0001751	Vestibular dysfunction	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0001751	HP:0001751	Vestibular dysfunction	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0001751	HP:0001751	Vestibular dysfunction	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0001751	HP:0001751	Vestibular dysfunction	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001751	HP:0001751	Vestibular dysfunction	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001751	HP:0001751	Vestibular dysfunction	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0001751	HP:0001751	Vestibular dysfunction	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0001751	HP:0001751	Vestibular dysfunction	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia		43
HP:0001751	HP:0001751	Vestibular dysfunction	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement		33
HP:0001751	HP:0001751	Vestibular dysfunction	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1		33
HP:0001751	HP:0001751	Vestibular dysfunction	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0001751	HP:0001751	Vestibular dysfunction	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0001751	HP:0001751	Vestibular dysfunction	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0001751	HP:0001751	Vestibular dysfunction	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0001751	HP:0001751	Vestibular dysfunction	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0001751	HP:0001751	Vestibular dysfunction	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0001751	HP:0001751	Vestibular dysfunction	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0001751	HP:0001751	Vestibular dysfunction	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0001751	HP:0001751	Vestibular dysfunction	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001751	HP:0001751	Vestibular dysfunction	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0001751	HP:0001751	Vestibular dysfunction	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A	HP:0040283 - Occasional	199
HP:0001751	HP:0001751	Vestibular dysfunction	0	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A	HP:0040283 - Occasional	74
HP:0001751	HP:0001751	Vestibular dysfunction	0	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A	HP:0040283 - Occasional	56
HP:0001751	HP:0001751	Vestibular dysfunction	0	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B	HP:0040283 - Occasional	56
HP:0001751	HP:0001751	Vestibular dysfunction	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0001751	HP:0001751	Vestibular dysfunction	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0001751	HP:0001751	Vestibular dysfunction	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0001751	HP:0001751	Vestibular dysfunction	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0001751	HP:0001751	Vestibular dysfunction	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0001751	HP:0001751	Vestibular dysfunction	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0001751	HP:0001751	Vestibular dysfunction	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001751	HP:0001751	Vestibular dysfunction	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001751	HP:0001751	Vestibular dysfunction	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0001751	HP:0001751	Vestibular dysfunction	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1		57
HP:0001751	HP:0001751	Vestibular dysfunction	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001751	HP:0001751	Vestibular dysfunction	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0001751	HP:0001751	Vestibular dysfunction	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0001751	HP:0001751	Vestibular dysfunction	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0001751	HP:0001751	Vestibular dysfunction	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1		145
HP:0001751	HP:0001751	Vestibular dysfunction	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0001751	HP:0001751	Vestibular dysfunction	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0001751	HP:0001751	Vestibular dysfunction	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0001751	HP:0001751	Vestibular dysfunction	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001751	HP:0001751	Vestibular dysfunction	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0001751	HP:0001751	Vestibular dysfunction	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001751	HP:0001751	Vestibular dysfunction	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0001751	HP:0001751	Vestibular dysfunction	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma		462
HP:0001751	HP:0001751	Vestibular dysfunction	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001751	HP:0001751	Vestibular dysfunction	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0001751	HP:0001751	Vestibular dysfunction	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37		179
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.	516
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.	516
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1		516
HP:0001751	HP:0001751	Vestibular dysfunction	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0001751	HP:0001751	Vestibular dysfunction	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001751	HP:0001751	Vestibular dysfunction	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1		47
HP:0001751	HP:0001751	Vestibular dysfunction	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0001751	HP:0001751	Vestibular dysfunction	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0001751	HP:0001751	Vestibular dysfunction	0	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94	HP:0040284 - Very rare	34
HP:0001751	HP:0001751	Vestibular dysfunction	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0001751	HP:0001751	Vestibular dysfunction	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0001751	HP:0001751	Vestibular dysfunction	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect		90
HP:0001751	HP:0001751	Vestibular dysfunction	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0001751	HP:0001751	Vestibular dysfunction	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001751	HP:0001751	Vestibular dysfunction	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0001751	HP:0001751	Vestibular dysfunction	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001751	HP:0001751	Vestibular dysfunction	0	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B		105
HP:0001751	HP:0001751	Vestibular dysfunction	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0001751	HP:0001751	Vestibular dysfunction	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1		352
HP:0001751	HP:0001751	Vestibular dysfunction	0	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID	.	352
HP:0001751	HP:0001751	Vestibular dysfunction	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF		352
HP:0001751	HP:0001751	Vestibular dysfunction	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5		9
HP:0001751	HP:0001751	Vestibular dysfunction	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001751	HP:0001751	Vestibular dysfunction	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0001751	HP:0001751	Vestibular dysfunction	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0001751	HP:0001751	Vestibular dysfunction	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001751	HP:0001751	Vestibular dysfunction	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0001751	HP:0001751	Vestibular dysfunction	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0001751	HP:0001751	Vestibular dysfunction	0	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.	7
HP:0001751	HP:0001751	Vestibular dysfunction	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001751	HP:0001751	Vestibular dysfunction	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0001751	HP:0001751	Vestibular dysfunction	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0001751	HP:0001751	Vestibular dysfunction	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0001751	HP:0001751	Vestibular dysfunction	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0001751	HP:0001751	Vestibular dysfunction	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0001751	HP:0001751	Vestibular dysfunction	0	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		1103
HP:0001751	HP:0001751	Vestibular dysfunction	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0001751	HP:0001751	Vestibular dysfunction	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect		126
HP:0001751	HP:0001751	Vestibular dysfunction	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0001751	HP:0001751	Vestibular dysfunction	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0001751	HP:0001751	Vestibular dysfunction	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect		1134
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0001751	HP:0001751	Vestibular dysfunction	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0001751	HP:0001751	Vestibular dysfunction	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6		63
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0001751	HP:0001751	Vestibular dysfunction	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0001751	HP:0001751	Vestibular dysfunction	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0001751	HP:0001751	Vestibular dysfunction	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001751	HP:0001751	Vestibular dysfunction	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0001751	HP:0001751	Vestibular dysfunction	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001751	HP:0001751	Vestibular dysfunction	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001751	HP:0001751	Vestibular dysfunction	0	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		4
HP:0001751	HP:0001751	Vestibular dysfunction	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0001751	HP:0001751	Vestibular dysfunction	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001751	HP:0001751	Vestibular dysfunction	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0001751	HP:0001751	Vestibular dysfunction	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0001751	HP:0001751	Vestibular dysfunction	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0001751	HP:0001751	Vestibular dysfunction	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0001751	HP:0001751	Vestibular dysfunction	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0001751	HP:0001751	Vestibular dysfunction	0	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia		145
HP:0001751	HP:0001751	Vestibular dysfunction	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0001751	HP:0001751	Vestibular dysfunction	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect		124
HP:0001751	HP:0001751	Vestibular dysfunction	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0001751	HP:0001751	Vestibular dysfunction	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0001751	HP:0001751	Vestibular dysfunction	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001751	HP:0001751	Vestibular dysfunction	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1		173
HP:0001751	HP:0001751	Vestibular dysfunction	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0001751	HP:0001751	Vestibular dysfunction	0	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC		173
HP:0001751	HP:0001751	Vestibular dysfunction	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1		78
HP:0001751	HP:0001751	Vestibular dysfunction	0	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.	78
HP:0001751	HP:0001751	Vestibular dysfunction	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0001751	HP:0001751	Vestibular dysfunction	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0001751	HP:0001751	Vestibular dysfunction	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0001751	HP:0001751	Vestibular dysfunction	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0001751	HP:0001751	Vestibular dysfunction	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0001751	HP:0001751	Vestibular dysfunction	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001751	HP:4000033	Non-spinning vertigo	1	CL E G H
HP:0001751	HP:4000032	False perception of self-motion	1	CL E G H
HP:0001751	HP:0002321	Vertigo	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0001751	HP:0002321	Vertigo	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0001751	HP:0001756	Vestibular hypofunction	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0001751	HP:0002321	Vertigo	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0001751	HP:0002321	Vertigo	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0001751	HP:0002321	Vertigo	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0001751	HP:0002321	Vertigo	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	276
HP:0001751	HP:0002321	Vertigo	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001751	HP:0002321	Vertigo	1	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent	449
HP:0001751	HP:0002321	Vertigo	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0001751	HP:0002321	Vertigo	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0001751	HP:0002321	Vertigo	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040281 - Very frequent	449
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0001751	HP:0002321	Vertigo	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0001751	HP:0002321	Vertigo	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0001751	HP:0002321	Vertigo	1	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent	146
HP:0001751	HP:0002321	Vertigo	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.	146
HP:0001751	HP:0002321	Vertigo	1	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	18
HP:0001751	HP:0002321	Vertigo	1	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	.	18
HP:0001751	HP:0002321	Vertigo	1	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	13
HP:0001751	HP:0002321	Vertigo	1	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	16
HP:0001751	HP:0002321	Vertigo	1	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	129
HP:0001751	HP:0002321	Vertigo	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0001751	HP:0002321	Vertigo	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0001751	HP:0002321	Vertigo	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001751	HP:0002321	Vertigo	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0001751	HP:0002321	Vertigo	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0001751	HP:0001756	Vestibular hypofunction	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	636
HP:0001751	HP:0001756	Vestibular hypofunction	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent	9
HP:0001751	HP:0001756	Vestibular hypofunction	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	15
HP:0001751	HP:0002321	Vertigo	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103		1
HP:0001751	HP:0001756	Vestibular hypofunction	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent	60
HP:0001751	HP:0002321	Vertigo	1	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal	.	47
HP:0001751	HP:0002321	Vertigo	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0001751	HP:0002321	Vertigo	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001751	HP:0002321	Vertigo	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	88
HP:0001751	HP:0002321	Vertigo	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0001751	HP:0002321	Vertigo	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0001751	HP:0002321	Vertigo	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001751	HP:0002321	Vertigo	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0001751	HP:0002321	Vertigo	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0001751	HP:0002321	Vertigo	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent	43
HP:0001751	HP:0002321	Vertigo	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement		33
HP:0001751	HP:0001756	Vestibular hypofunction	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	33
HP:0001751	HP:0002321	Vertigo	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.	47
HP:0001751	HP:0002321	Vertigo	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0001751	HP:0002321	Vertigo	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001751	HP:0002321	Vertigo	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0001751	HP:0002321	Vertigo	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	33
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0001751	HP:0002321	Vertigo	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0001751	HP:0002321	Vertigo	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0001751	HP:0002321	Vertigo	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0001751	HP:0002321	Vertigo	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0001751	HP:0002321	Vertigo	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0001751	HP:0001756	Vestibular hypofunction	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0001751	HP:0002321	Vertigo	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001751	HP:0002321	Vertigo	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001751	HP:0002321	Vertigo	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001751	HP:0002321	Vertigo	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001751	HP:0002321	Vertigo	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001751	HP:0002321	Vertigo	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001751	HP:0002321	Vertigo	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001751	HP:0002321	Vertigo	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001751	HP:0002321	Vertigo	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001751	HP:0002321	Vertigo	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001751	HP:0002321	Vertigo	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001751	HP:0002321	Vertigo	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0001751	HP:0002321	Vertigo	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent	222
HP:0001751	HP:0002321	Vertigo	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0001751	HP:0002321	Vertigo	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0001751	HP:0002321	Vertigo	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	121
HP:0001751	HP:0002321	Vertigo	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0001751	HP:0002321	Vertigo	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001751	HP:0002321	Vertigo	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0001751	HP:0002321	Vertigo	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0001751	HP:0002321	Vertigo	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001751	HP:0002321	Vertigo	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001751	HP:0002321	Vertigo	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0001751	HP:0002321	Vertigo	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001751	HP:0002321	Vertigo	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0001751	HP:0002321	Vertigo	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome	.	150
HP:0001751	HP:0002321	Vertigo	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent	9
HP:0001751	HP:0002321	Vertigo	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0001751	HP:0002321	Vertigo	1	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.	516
HP:0001751	HP:0002321	Vertigo	1	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.	516
HP:0001751	HP:0001756	Vestibular hypofunction	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	516
HP:0001751	HP:0001756	Vestibular hypofunction	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0001751	HP:0002321	Vertigo	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001751	HP:0002321	Vertigo	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent	47
HP:0001751	HP:0002321	Vertigo	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0001751	HP:0002321	Vertigo	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0001751	HP:0002321	Vertigo	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0001751	HP:0002321	Vertigo	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0001751	HP:0002321	Vertigo	1	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	90
HP:0001751	HP:0002321	Vertigo	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0001751	HP:0002321	Vertigo	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001751	HP:0002321	Vertigo	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0001751	HP:0002321	Vertigo	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001751	HP:0001756	Vestibular hypofunction	1	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B	HP:0040283 - Occasional	105
HP:0001751	HP:0002321	Vertigo	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001751	HP:0001756	Vestibular hypofunction	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	352
HP:0001751	HP:0002321	Vertigo	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0001751	HP:0002321	Vertigo	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0001751	HP:0002321	Vertigo	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0001751	HP:0002321	Vertigo	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0001751	HP:0002321	Vertigo	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001751	HP:0002321	Vertigo	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0001751	HP:0002321	Vertigo	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0001751	HP:0002321	Vertigo	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0001751	HP:0007670	Abnormal vestibulo-ocular reflex	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0001751	HP:0002321	Vertigo	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0001751	HP:0002321	Vertigo	1	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	1103
HP:0001751	HP:0002321	Vertigo	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0001751	HP:0002321	Vertigo	1	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	126
HP:0001751	HP:0002321	Vertigo	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0001751	HP:0002321	Vertigo	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0001751	HP:0002321	Vertigo	1	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	1134
HP:0001751	HP:0002321	Vertigo	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0001751	HP:0002321	Vertigo	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0001751	HP:0002321	Vertigo	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0001751	HP:0002321	Vertigo	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0001751	HP:0002321	Vertigo	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0001751	HP:0002321	Vertigo	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0001751	HP:0002321	Vertigo	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0001751	HP:0002321	Vertigo	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0001751	HP:0002321	Vertigo	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001751	HP:0002321	Vertigo	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0001751	HP:0002321	Vertigo	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001751	HP:0002321	Vertigo	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040281 - Very frequent	63
HP:0001751	HP:0002321	Vertigo	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0001751	HP:0002321	Vertigo	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001751	HP:0002321	Vertigo	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	274
HP:0001751	HP:0002321	Vertigo	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0001751	HP:0002321	Vertigo	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001751	HP:0002321	Vertigo	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001751	HP:0002321	Vertigo	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0001751	HP:0002321	Vertigo	1	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	4
HP:0001751	HP:0002321	Vertigo	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0001751	HP:0002321	Vertigo	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0001751	HP:0002321	Vertigo	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001751	HP:0002321	Vertigo	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0001751	HP:0002321	Vertigo	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0001751	HP:0002321	Vertigo	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	.	21
HP:0001751	HP:0002321	Vertigo	1	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent	145
HP:0001751	HP:0001756	Vestibular hypofunction	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0001751	HP:0002321	Vertigo	1	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	124
HP:0001751	HP:0002321	Vertigo	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001751	HP:0001756	Vestibular hypofunction	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	173
HP:0001751	HP:0001756	Vestibular hypofunction	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0001751	HP:0001756	Vestibular hypofunction	1	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.	173
HP:0001751	HP:0001756	Vestibular hypofunction	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	78
HP:0001751	HP:0002321	Vertigo	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0001751	HP:0002321	Vertigo	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0001751	HP:0002321	Vertigo	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0001751	HP:0002321	Vertigo	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0001751	HP:0002321	Vertigo	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0001751	HP:0002321	Vertigo	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0001751	HP:0032100	Abnormal doll's eye reflex	2	CL E G H
HP:0001751	HP:0010532	Paroxysmal vertigo	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0001751	HP:0008568	Vestibular areflexia	2	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.	1
HP:0001751	HP:0010532	Paroxysmal vertigo	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001751	HP:0010532	Paroxysmal vertigo	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0001751	HP:0010532	Paroxysmal vertigo	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0001751	HP:0008568	Vestibular areflexia	2	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.	33
HP:0001751	HP:0010532	Paroxysmal vertigo	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0001751	HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0001751	HP:0010532	Paroxysmal vertigo	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0001751	HP:0010532	Paroxysmal vertigo	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0001751	HP:0010532	Paroxysmal vertigo	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0001751	HP:0008555	Absent vestibular function	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.	516
HP:0001751	HP:0010532	Paroxysmal vertigo	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0001751	HP:0010532	Paroxysmal vertigo	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0001751	HP:0010532	Paroxysmal vertigo	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0001751	HP:0008568	Vestibular areflexia	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0001751	HP:0008568	Vestibular areflexia	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0001751	HP:0010532	Paroxysmal vertigo	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001751	HP:0010532	Paroxysmal vertigo	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0001751	HP:0008555	Absent vestibular function	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.	173
HP:0001751	HP:0010532	Paroxysmal vertigo	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0001751	HP:0010532	Paroxysmal vertigo	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490

Genes (141) :ADA2 AIP ALMS1 ARSG ATP1A2 ATXN3 BCOR BRAF C4A CACNA1A CACNA1G CACNB4 CALM1 CALM2 CALM3 CASQ2 CCND1 CCR1 CDH23 CEP78 CIB2 CLCNKB CLIC5 CLRN1 CNNM2 COCH COL3A1 CTNNB1 DBH DKK1 DLST DNMT3A EPAS1 EPOR ERAP1 ESPN FAS FGF14 FH FIP1L1 FLI1 FOXI1 FXN GATA2 GCDH GCGR GJB2 GJB3 GJB6 GLA GYG1 HARS1 HLA-B HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRF2BP2 JAG1 JAK2 JUP KCNA1 KCNJ10 KIF1B KLRC4 MAX MDH2 MED12 MEFV MEN1 MPL MVK MYD88 MYL2 MYO6 MYO7A NABP1 NAGA NARS2 NF1 NF2 NKX2-5 NOP56 NPM1 NPPA NUMA1 OTOGL P4HA2 PCDH15 PDGFB PML POLG PRKAR1A PRRT2 PTPN22 PTPRQ RARA RET RFC1 RYR1 RYR2 SCN1A SCN1B SCN2A SCN5A SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SLC12A3 SLC1A3 SLC25A11 SLC26A4 SLC39A14 SOX6 STAT3 STAT4 STAT5B TBL1XR1 TECRL TET2 THPO TIMM8A TLR4 TMEM127 TNFRSF1A TPK1 TRDN TRNS2 TRPM4 TWNK UBAC2 USH1C USH1G VHL VSX1 ZBTB16

Diseases (101) :ORPHA:820 ORPHA:2965 ORPHA:64 ORPHA:231183 ORPHA:569 OMIM:602481 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:520 ORPHA:54595 ORPHA:117 ORPHA:71518 OMIM:108500 ORPHA:97 OMIM:183086 ORPHA:458803 OMIM:607682 ORPHA:211067 OMIM:613855 ORPHA:3286 OMIM:614916 ORPHA:892 OMIM:193300 ORPHA:91347 ORPHA:231169 OMIM:601067 OMIM:609439 OMIM:614869 ORPHA:358 OMIM:616042 OMIM:276902 OMIM:613882 OMIM:601369 OMIM:618094 ORPHA:286 ORPHA:230 ORPHA:268882 ORPHA:29072 ORPHA:276621 ORPHA:90042 OMIM:609006 OMIM:618632 OMIM:193003 ORPHA:370348 OMIM:274600 ORPHA:705 ORPHA:95 ORPHA:3226 ORPHA:25 OMIM:619290 OMIM:220290 OMIM:612645 ORPHA:324 ORPHA:263297 ORPHA:397 OMIM:617992 OMIM:133100 ORPHA:71493 ORPHA:729 ORPHA:34217 ORPHA:37612 OMIM:160120 OMIM:301068 OMIM:260920 ORPHA:33226 OMIM:608758 OMIM:607821 OMIM:601317 OMIM:600060 OMIM:276900 ORPHA:79279 ORPHA:79280 OMIM:609242 OMIM:618434 OMIM:101000 ORPHA:871 ORPHA:276198 ORPHA:1344 OMIM:614944 OMIM:602083 OMIM:615483 OMIM:607459 ORPHA:70595 OMIM:613391 ORPHA:504476 OMIM:614575 ORPHA:466650 OMIM:618924 OMIM:619259 OMIM:263800 ORPHA:209967 OMIM:612656 OMIM:144755 OMIM:618971 ORPHA:52368 ORPHA:32960 OMIM:614458 OMIM:276904 OMIM:606943 OMIM:614195

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen