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 movement (HP:0100022)

Parent Node:
Dystonia (HP:0001332)

..Starting node
..Generalized dystonia (HP:0007325)

Term ID:

7325

Name:

Generalized dystonia

Synonym:

Generalised dystonia

Definition:

A type of dystonia that affects all or most of the body.

Comments:

Reference:

HP:0007325

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axial dystonia (HP:0002530)

Focal dystonia (HP:0004373)

Limb dystonia (HP:0002451)

Oculogyric crisis (HP:0010553)

Paroxysmal dystonia (HP:0002268)

Torsion dystonia (HP:0001304)

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:0007325	HP:0007325	Generalized dystonia	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0007325	HP:0007325	Generalized dystonia	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.	72
HP:0007325	HP:0007325	Generalized dystonia	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0007325	HP:0007325	Generalized dystonia	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0007325	HP:0007325	Generalized dystonia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0007325	HP:0007325	Generalized dystonia	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0007325	HP:0007325	Generalized dystonia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0007325	HP:0007325	Generalized dystonia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0007325	HP:0007325	Generalized dystonia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0007325	HP:0007325	Generalized dystonia	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040283 - Occasional	4
HP:0007325	HP:0007325	Generalized dystonia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0007325	HP:0007325	Generalized dystonia	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0007325	HP:0007325	Generalized dystonia	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0007325	HP:0007325	Generalized dystonia	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional	191
HP:0007325	HP:0007325	Generalized dystonia	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0007325	HP:0007325	Generalized dystonia	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0007325	HP:0007325	Generalized dystonia	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0007325	HP:0007325	Generalized dystonia	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27
HP:0007325	HP:0007325	Generalized dystonia	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0007325	HP:0007325	Generalized dystonia	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0007325	HP:0007325	Generalized dystonia	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0007325	HP:0007325	Generalized dystonia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0007325	HP:0007325	Generalized dystonia	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40
HP:0007325	HP:0007325	Generalized dystonia	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional	80
HP:0007325	HP:0007325	Generalized dystonia	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040281 - Very frequent	42
HP:0007325	HP:0007325	Generalized dystonia	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0007325	HP:0007325	Generalized dystonia	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0007325	HP:0007325	Generalized dystonia	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0007325	HP:0007325	Generalized dystonia	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional	2
HP:0007325	HP:0007325	Generalized dystonia	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.	66
HP:0007325	HP:0007325	Generalized dystonia	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040281 - Very frequent	66
HP:0007325	HP:0007325	Generalized dystonia	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29

Genes (29) :ACTB ALS2 AOPEP C19ORF12 DLAT FA2H GCH1 HPCA IMPDH2 JAM2 KMT2B LRPPRC MRPS25 NAXD NDUFAF6 NR4A2 PANK2 PLP1 PRKRA SLC39A14 SUOX TH THAP1 TIMM8A TNR TOR1A TSPOAP1 TUBB4A VPS41

Diseases (29) :ORPHA:79107 OMIM:607371 OMIM:205100 OMIM:619565 OMIM:614298 OMIM:245348 ORPHA:171629 ORPHA:329308 ORPHA:98808 ORPHA:99657 OMIM:618824 ORPHA:589618 ORPHA:70472 OMIM:619025 OMIM:618321 OMIM:618239 ORPHA:216866 OMIM:312080 OMIM:612067 OMIM:617013 OMIM:272300 ORPHA:101150 ORPHA:98806 ORPHA:52368 OMIM:619653 OMIM:128100 OMIM:128101 ORPHA:98805 OMIM:619389

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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