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
..Axial dystonia (HP:0002530)

Term ID:

2530

Name:

Axial dystonia

Synonym:

Truncal dystonia

Definition:

A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.

Comments:

Reference:

HP:0002530

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal dystonia (HP:0004373)

Generalized dystonia (HP:0007325)

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:0002530	HP:0002530	Axial dystonia	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0002530	HP:0002530	Axial dystonia	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent	16
HP:0002530	HP:0002530	Axial dystonia	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040282 - Frequent	702
HP:0002530	HP:0002530	Axial dystonia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002530	HP:0002530	Axial dystonia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0002530	HP:0002530	Axial dystonia	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0002530	HP:0002530	Axial dystonia	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0002530	HP:0002530	Axial dystonia	0	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type	HP:0040282 - Frequent	13
HP:0002530	HP:0002530	Axial dystonia	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002530	HP:0002530	Axial dystonia	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0002530	HP:0002530	Axial dystonia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002530	HP:0002530	Axial dystonia	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0002530	HP:0002530	Axial dystonia	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0002530	HP:0002530	Axial dystonia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002530	HP:0002530	Axial dystonia	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0002530	HP:0002530	Axial dystonia	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0002530	HP:0002530	Axial dystonia	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0002530	HP:0002530	Axial dystonia	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54

Genes (16) :ALS2 CIZ1 COL6A3 COQ2 EIF2AK2 FUS GNAL HPDL MAPT MECR NDUFS3 PLA2G6 PPP2R2B SIGMAR1 SPG11 SPTLC1

Diseases (14) :ORPHA:300605 ORPHA:420492 ORPHA:464440 ORPHA:227510 ORPHA:98933 OMIM:619687 ORPHA:329466 OMIM:619026 ORPHA:240071 OMIM:601104 ORPHA:508093 OMIM:618230 OMIM:612953 OMIM:604326

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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