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:
Abnormality of the peripheral nervous system (HP:0410008)

Parent Node:
Abnormality of the autonomic nervous system (HP:0002270)

..Starting node
..Abnormal autonomic nervous system physiology (HP:0012332)

Term ID:

12332

Name:

Abnormal autonomic nervous system physiology

Synonym:

Autonomic dysfunction; Autonomic dysregulation; Dysautonomia

Definition:

A functional abnormality of the autonomic nervous system.

Comments:

Reference:

HP:0012332

Genes and Diseases:

Child Nodes:

........

Orthostatic hypotension (HP:0001278)

................... HP:0004926 Orthostatic hypotension due to autonomic dysfunction
................... HP:0005307 Postural hypotension with compensatory tachycardia

........

Autonomic dysregulation (HP:0002271)

........

Horner syndrome (HP:0002277)

................... HP:0006837 Congenital Horner syndrome

........

Dysautonomia (HP:0002459)

................... HP:0005341 Autonomic bladder dysfunction
................... HP:0008652 Autonomic erectile dysfunction

........

Orthostatic tachycardia (HP:0012173)

........

Abnormal sudomotor regulation (HP:0012333)

Sister Nodes:

Abnormal autonomic nervous system morphology (HP:0012331)

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:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	4
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	289
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	539
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	239
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	150
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	11
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	HP:0040283 - Occasional	14
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	1
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	449
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	572
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	18
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	13
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	16
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant		3
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040283 - Occasional	172
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.	5
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	1
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.	24
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	43
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	901
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	128
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	730
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040283 - Occasional	75
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040281 - Very frequent	44
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	140
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional	950
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	4
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	27
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040283 - Occasional	334
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	146
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN11A CL E G H	11280	10583	OMIM:615552	Episodic pain syndrome, familial, 3	HP:0040282 - Frequent	19
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4	.	70
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	110
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	1134
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	HP:0040283 - Occasional	318
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	63
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	35
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	118
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional	7
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	123
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	145
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	HP:0040283 - Occasional
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent	1
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent	107
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.	1
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0012332	HP:0012332	Abnormal autonomic nervous system physiology	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0012332	HP:0012333	Abnormal sudomotor regulation	1	CL E G H
HP:0012332	HP:0001278	Orthostatic hypotension	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0012332	HP:0001278	Orthostatic hypotension	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0012332	HP:0001278	Orthostatic hypotension	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0012332	HP:0001278	Orthostatic hypotension	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0012332	HP:0001278	Orthostatic hypotension	1	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0012332	HP:0001278	Orthostatic hypotension	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0012332	HP:0001278	Orthostatic hypotension	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	373
HP:0012332	HP:0002277	Horner syndrome	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012332	HP:0001278	Orthostatic hypotension	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	660
HP:0012332	HP:0001278	Orthostatic hypotension	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	325
HP:0012332	HP:0001278	Orthostatic hypotension	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0012332	HP:0008652	Autonomic erectile dysfunction	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0012332	HP:0005341	Autonomic bladder dysfunction	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0012332	HP:0001278	Orthostatic hypotension	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0012332	HP:0008652	Autonomic erectile dysfunction	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0012332	HP:0005341	Autonomic bladder dysfunction	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0012332	HP:0001278	Orthostatic hypotension	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0012332	HP:0001278	Orthostatic hypotension	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2	.
HP:0012332	HP:0001278	Orthostatic hypotension	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0012332	HP:0001278	Orthostatic hypotension	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	.	73
HP:0012332	HP:0001278	Orthostatic hypotension	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040281 - Very frequent	80
HP:0012332	HP:0001278	Orthostatic hypotension	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0012332	HP:0001278	Orthostatic hypotension	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0012332	HP:0001278	Orthostatic hypotension	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0012332	HP:0001278	Orthostatic hypotension	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0012332	HP:0001278	Orthostatic hypotension	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0012332	HP:0001278	Orthostatic hypotension	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0012332	HP:0001278	Orthostatic hypotension	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	HP:0040283 - Occasional	86
HP:0012332	HP:0001278	Orthostatic hypotension	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0012332	HP:0001278	Orthostatic hypotension	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional	24
HP:0012332	HP:0002277	Horner syndrome	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012332	HP:0001278	Orthostatic hypotension	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0012332	HP:0001278	Orthostatic hypotension	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0012332	HP:0001278	Orthostatic hypotension	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0012332	HP:0001278	Orthostatic hypotension	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0012332	HP:0001278	Orthostatic hypotension	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0012332	HP:0002277	Horner syndrome	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0012332	HP:0001278	Orthostatic hypotension	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0012332	HP:0001278	Orthostatic hypotension	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0012332	HP:0001278	Orthostatic hypotension	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0012332	HP:0005341	Autonomic bladder dysfunction	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0012332	HP:0005341	Autonomic bladder dysfunction	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0012332	HP:0001278	Orthostatic hypotension	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0012332	HP:0008652	Autonomic erectile dysfunction	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0012332	HP:0001278	Orthostatic hypotension	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0012332	HP:0001278	Orthostatic hypotension	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0012332	HP:0001278	Orthostatic hypotension	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0012332	HP:0001278	Orthostatic hypotension	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0012332	HP:0005341	Autonomic bladder dysfunction	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0012332	HP:0001278	Orthostatic hypotension	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0012332	HP:0001278	Orthostatic hypotension	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0012332	HP:0001278	Orthostatic hypotension	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency		40
HP:0012332	HP:0012173	Orthostatic tachycardia	1	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0012332	HP:0001278	Orthostatic hypotension	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0012332	HP:0001278	Orthostatic hypotension	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0012332	HP:0001278	Orthostatic hypotension	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0012332	HP:0001278	Orthostatic hypotension	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0012332	HP:0001278	Orthostatic hypotension	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0012332	HP:0001278	Orthostatic hypotension	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0012332	HP:0001278	Orthostatic hypotension	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0012332	HP:0001278	Orthostatic hypotension	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0012332	HP:0002277	Horner syndrome	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	253
HP:0012332	HP:0006837	Congenital Horner syndrome	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0012332	HP:0006837	Congenital Horner syndrome	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0012332	HP:0005307	Postural hypotension with compensatory tachycardia	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	81
HP:0012332	HP:0005307	Postural hypotension with compensatory tachycardia	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0012332	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0012332	HP:0006837	Congenital Horner syndrome	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (125) :AAAS ACOX1 ADH1C AKAP9 ANK2 ARSA ASCL1 ATP1A2 ATP1A3 ATP7A ATXN2 ATXN3 ATXN8OS B2M BRAT1 CACNA1A CACNA1C CALM1 CALM2 CALM3 CAV1 CAV3 CCT5 CHCHD2 CHRNA3 CISD2 COL1A1 COL25A1 COL5A1 COL5A2 COQ2 CYB561 CYP11B2 DBH DEPDC5 DNAJC13 DNAJC6 ECE1 EIF4G1 ELP1 ERBB3 FBXO7 FMR1 GABBR2 GBA1 GBE1 GFAP GIGYF2 GLA GLUD2 GMPPA GNB2 GSN HEXB HTRA2 IL12A IL12RB1 IRF5 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 KIF1B LEP LEPR LGI1 LIFR LMNB1 LRRK2 MAPT MECP2 MMEL1 NOS1AP NR4A2 NTRK1 PARK7 PHOX2B PINK1 PLA2G6 PODXL POLR3A POU2AF1 PPOX PRKN PRNP PSAP RELN RET RFC1 SCN10A SCN11A SCN3A SCN4B SCN5A SCN9A SIM1 SLC18A2 SLC1A3 SLC6A2 SNCA SNCAIP SNTA1 SOX10 SPG11 SPIB SYNJ1 TBP TBX5 TNFSF15 TNPO3 TRDN TRNT TSPYL1 TTR TUBB3 TXN2 UCHL1 VPS11 VPS13A VPS13C VPS35 WDR45 WFS1 ZFHX4

Diseases (83) :OMIM:231550 OMIM:618960 OMIM:168600 ORPHA:101016 ORPHA:309271 ORPHA:99803 ORPHA:2131 OMIM:304150 OMIM:109150 ORPHA:314652 OMIM:614498 OMIM:606721 ORPHA:139578 OMIM:616710 OMIM:191800 ORPHA:3463 ORPHA:287 ORPHA:91411 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:618182 ORPHA:556030 OMIM:610600 ORPHA:230 OMIM:223360 ORPHA:101046 ORPHA:411602 ORPHA:2828 OMIM:613870 ORPHA:1764 OMIM:223900 OMIM:243180 ORPHA:171695 ORPHA:93256 OMIM:617903 OMIM:263570 ORPHA:363722 OMIM:301500 OMIM:615510 OMIM:619503 ORPHA:85448 OMIM:268800 ORPHA:186 OMIM:256700 ORPHA:66628 ORPHA:179494 ORPHA:3206 OMIM:601559 ORPHA:99027 OMIM:169500 ORPHA:778 ORPHA:642 OMIM:256800 OMIM:209880 ORPHA:35069 ORPHA:447896 ORPHA:79473 OMIM:600072 ORPHA:282166 OMIM:614575 OMIM:615552 OMIM:615548 OMIM:617935 OMIM:133020 ORPHA:369873 OMIM:618049 OMIM:604715 OMIM:605543 OMIM:609136 ORPHA:2822 ORPHA:168593 OMIM:105210 ORPHA:85451 ORPHA:85447 ORPHA:300570 ORPHA:478029 OMIM:616683 ORPHA:466934 ORPHA:2388 OMIM:616840 ORPHA:329284 OMIM:300894

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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