Human Phenotype Ontology

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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:
Focal dystonia (HP:0004373)

Parent Node:
Abnormal central motor function (HP:0011442)

Parent Node:
Abnormal morphology of the musculature of the neck (HP:0011006)

Parent Node:
Craniofacial dystonia (HP:0012179)

..Starting node
..Torticollis (HP:0000473)

Term ID:

473

Name:

Torticollis

Synonym:

Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck

Definition:

Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.

Comments:

Reference:

HP:0000473

Genes and Diseases:

Child Nodes:

........

Retrocollis (HP:0002544)

Sister Nodes:

Blepharospasm (HP:0000643)

Lingual dystonia (HP:0031008)

Orofacial action-specific dystonia induced by speech (HP:0031007)

Oromandibular dystonia (HP:0012048)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000473	HP:0000473	Torticollis	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0000473	HP:0000473	Torticollis	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000473	HP:0000473	Torticollis	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000473	HP:0000473	Torticollis	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0000473	HP:0000473	Torticollis	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040282 - Frequent		17
HP:0000473	HP:0000473	Torticollis	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	.		17
HP:0000473	HP:0000473	Torticollis	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.		100
HP:0000473	HP:0000473	Torticollis	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.		150
HP:0000473	HP:0000473	Torticollis	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent		150
HP:0000473	HP:0000473	Torticollis	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0000473	HP:0000473	Torticollis	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040281 - Very frequent		449
HP:0000473	HP:0000473	Torticollis	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040283 - Occasional		449
HP:0000473	HP:0000473	Torticollis	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0000473	HP:0000473	Torticollis	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000473	HP:0000473	Torticollis	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent		16
HP:0000473	HP:0000473	Torticollis	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000473	HP:0000473	Torticollis	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0000473	HP:0000473	Torticollis	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	HP:0003577 - Congenital onset	442
HP:0000473	HP:0000473	Torticollis	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0000473	HP:0000473	Torticollis	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0000473	HP:0000473	Torticollis	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	HP:0003577 - Congenital onset	478
HP:0000473	HP:0000473	Torticollis	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0000473	HP:0000473	Torticollis	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0000473	HP:0000473	Torticollis	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	HP:0003577 - Congenital onset	702
HP:0000473	HP:0000473	Torticollis	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0000473	HP:0000473	Torticollis	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27			702
HP:0000473	HP:0000473	Torticollis	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0000473	HP:0000473	Torticollis	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0000473	HP:0000473	Torticollis	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0000473	HP:0000473	Torticollis	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional		115
HP:0000473	HP:0000473	Torticollis	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0000473	HP:0000473	Torticollis	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0000473	HP:0000473	Torticollis	0	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent		16
HP:0000473	HP:0000473	Torticollis	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0000473	HP:0000473	Torticollis	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0000473	HP:0000473	Torticollis	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0000473	HP:0000473	Torticollis	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000473	HP:0000473	Torticollis	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0000473	HP:0000473	Torticollis	0	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type	HP:0040282 - Frequent		13
HP:0000473	HP:0000473	Torticollis	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.		13
HP:0000473	HP:0000473	Torticollis	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000473	HP:0000473	Torticollis	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.		4
HP:0000473	HP:0000473	Torticollis	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent		4
HP:0000473	HP:0000473	Torticollis	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0000473	HP:0000473	Torticollis	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency			127
HP:0000473	HP:0000473	Torticollis	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0000473	HP:0000473	Torticollis	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000473	HP:0000473	Torticollis	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0000473	HP:0000473	Torticollis	0	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent		1
HP:0000473	HP:0000473	Torticollis	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040284 - Very rare		38
HP:0000473	HP:0000473	Torticollis	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000473	HP:0000473	Torticollis	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0000473	HP:0000473	Torticollis	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0000473	HP:0000473	Torticollis	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0000473	HP:0000473	Torticollis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000473	HP:0000473	Torticollis	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0000473	HP:0000473	Torticollis	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000473	HP:0000473	Torticollis	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0000473	HP:0000473	Torticollis	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0000473	HP:0000473	Torticollis	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0000473	HP:0000473	Torticollis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000473	HP:0000473	Torticollis	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		66
HP:0000473	HP:0000473	Torticollis	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.		66
HP:0000473	HP:0000473	Torticollis	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000473	HP:0000473	Torticollis	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000473	HP:0000473	Torticollis	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0000473	HP:0000473	Torticollis	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0000473	HP:0000473	Torticollis	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		94
HP:0000473	HP:0000473	Torticollis	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0000473	HP:0000473	Torticollis	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000473	HP:0000473	Torticollis	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.		4
HP:0000473	HP:0000473	Torticollis	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.		49
HP:0000473	HP:0000473	Torticollis	0	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent		49
HP:0000473	HP:0000473	Torticollis	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0000473	HP:0000473	Torticollis	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000473	HP:0000473	Torticollis	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0000473	HP:0000473	Torticollis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000473	HP:0000473	Torticollis	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0000473	HP:0000473	Torticollis	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000473	HP:0000473	Torticollis	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	HP:0040283 - Occasional		108
HP:0000473	HP:0000473	Torticollis	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent		7
HP:0000473	HP:0000473	Torticollis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0000473	HP:0000473	Torticollis	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.		58
HP:0000473	HP:0000473	Torticollis	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0000473	HP:0000473	Torticollis	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.		42
HP:0000473	HP:0000473	Torticollis	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040283 - Occasional		42
HP:0000473	HP:0000473	Torticollis	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.		47
HP:0000473	HP:0000473	Torticollis	0	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent		47
HP:0000473	HP:0000473	Torticollis	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0000473	HP:0000473	Torticollis	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000473	HP:0000473	Torticollis	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.		66
HP:0000473	HP:0000473	Torticollis	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040282 - Frequent		66
HP:0000473	HP:0000473	Torticollis	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0000473	HP:0000473	Torticollis	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0000473	HP:0000473	Torticollis	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0000473	HP:0002544	Retrocollis	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000473	HP:0002544	Retrocollis	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0000473	HP:0002544	Retrocollis	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0000473	HP:0002544	Retrocollis	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0000473	HP:0002544	Retrocollis	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0000473	HP:0002544	Retrocollis	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0000473	HP:0002544	Retrocollis	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0000473	HP:0002544	Retrocollis	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0000473	HP:0002544	Retrocollis	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54

Genes (70) :ACTA1 ALG9 ALS2 ANO3 ATP13A2 ATP1A3 B3GALT6 CACNA1A CDK10 CEP85L CIZ1 CNP COL12A1 COL6A1 COL6A2 COL6A3 COLEC11 COX20 CP DDC DRD2 FLI1 FUS GCH1 GDAP2 GNAL HK1 HPCA IMPDH2 ITGA7 KCNC3 KCNN2 KCTD17 KIF1C KMT2B MAPT MYF5 NAA10 NAXE NEK9 NKX6-2 NR4A2 PCGF2 PNKD PRDX3 PRKAR1B PRKRA PRRT2 RNF170 ROBO3 SCP2 SGCE SIGMAR1 SOX10 SPG11 SPTBN1 SPTLC1 SUPT16H SYNGAP1 TBP TGFB2 TGM6 THAP1 TOR1A TRPV4 TUBB3 TUBB4A VPS11 VPS16 ZNF142

Diseases (78) :ORPHA:97240 ORPHA:79328 OMIM:205100 ORPHA:300605 ORPHA:420485 OMIM:615034 OMIM:606693 OMIM:128235 ORPHA:71517 ORPHA:536467 ORPHA:71518 ORPHA:97 OMIM:617694 OMIM:618873 ORPHA:420492 OMIM:619071 ORPHA:75840 OMIM:158810 OMIM:254090 OMIM:616411 OMIM:265050 OMIM:619054 ORPHA:48818 OMIM:604290 OMIM:608643 ORPHA:36899 ORPHA:370348 ORPHA:98808 OMIM:128230 OMIM:618369 ORPHA:329466 OMIM:615073 OMIM:618547 OMIM:224500 ORPHA:99657 OMIM:613204 ORPHA:98768 OMIM:619724 OMIM:616398 ORPHA:397946 ORPHA:589618 OMIM:617284 OMIM:601104 OMIM:618155 OMIM:300855 ORPHA:276432 OMIM:617186 OMIM:617022 OMIM:617560 OMIM:618371 ORPHA:98810 OMIM:118800 OMIM:619862 OMIM:619680 OMIM:612067 ORPHA:210571 OMIM:619686 OMIM:607313 OMIM:613724 OMIM:159900 OMIM:609136 OMIM:619475 OMIM:619480 OMIM:612621 ORPHA:98759 OMIM:614816 OMIM:613908 ORPHA:276193 OMIM:602629 ORPHA:98806 OMIM:128100 OMIM:181405 ORPHA:300570 OMIM:128101 ORPHA:98805 OMIM:619637 OMIM:619291 OMIM:618425

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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