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:
Focal dystonia (HP:0004373)

Parent Node:
Craniofacial dystonia (HP:0012179)

..Starting node
..Oromandibular dystonia (HP:0012048)

Term ID:

12048

Name:

Oromandibular dystonia

Synonym:

Cranial dystonia

Definition:

A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.

Comments:

Reference:

HP:0012048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharospasm (HP:0000643)

Lingual dystonia (HP:0031008)

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

Torticollis (HP:0000473)

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:0012048	HP:0012048	Oromandibular dystonia	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0012048	HP:0012048	Oromandibular dystonia	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0012048	HP:0012048	Oromandibular dystonia	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	HP:0040283 - Occasional	17
HP:0012048	HP:0012048	Oromandibular dystonia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040283 - Occasional	16
HP:0012048	HP:0012048	Oromandibular dystonia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0012048	HP:0012048	Oromandibular dystonia	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0012048	HP:0012048	Oromandibular dystonia	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0012048	HP:0012048	Oromandibular dystonia	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27	.	702
HP:0012048	HP:0012048	Oromandibular dystonia	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040281 - Very frequent	702
HP:0012048	HP:0012048	Oromandibular dystonia	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0012048	HP:0012048	Oromandibular dystonia	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0012048	HP:0012048	Oromandibular dystonia	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0012048	HP:0012048	Oromandibular dystonia	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0012048	HP:0012048	Oromandibular dystonia	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0012048	HP:0012048	Oromandibular dystonia	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0012048	HP:0012048	Oromandibular dystonia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0012048	HP:0012048	Oromandibular dystonia	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0012048	HP:0012048	Oromandibular dystonia	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0012048	HP:0012048	Oromandibular dystonia	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0012048	HP:0012048	Oromandibular dystonia	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.	42
HP:0012048	HP:0012048	Oromandibular dystonia	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0012048	HP:0012048	Oromandibular dystonia	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0012048	HP:0012048	Oromandibular dystonia	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0012048	HP:0012048	Oromandibular dystonia	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30

Genes (19) :ALS2 ANO3 ATN1 C19ORF12 COASY COL6A3 FUS KMT2B PANK2 SIGMAR1 SLC39A14 SLC6A3 SPG11 SPTLC1 THAP1 TIMM8A TOR1A VPS13A VPS16

Diseases (20) :ORPHA:300605 ORPHA:420485 OMIM:615034 ORPHA:101 OMIM:614298 ORPHA:397725 OMIM:615643 OMIM:616411 ORPHA:464440 ORPHA:589618 OMIM:617284 ORPHA:216873 ORPHA:521406 OMIM:617013 OMIM:613135 OMIM:602629 ORPHA:52368 OMIM:128100 ORPHA:2388 OMIM:619291

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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