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:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormality of facial musculature (HP:0000301)

Parent Node:
Myokymia (HP:0002411)

..Starting node
..Facial myokymia (HP:0000317)

Term ID:

317

Name:

Facial myokymia

Synonym:

Involuntary facial contraction; Involuntary facial quivering

Definition:

Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).

Comments:

Reference:

HP:0000317

Genes and Diseases:

Child Nodes:

Sister Nodes:

EMG: myokymic discharges (HP:0100288)

Eyelid myokymia (HP:0031166)

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:0000317	HP:0000317	Facial myokymia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0000317	HP:0000317	Facial myokymia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0000317	HP:0000317	Facial myokymia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040281 - Very frequent	25
HP:0000317	HP:0000317	Facial myokymia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare	100
HP:0000317	HP:0000317	Facial myokymia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000317	HP:0000317	Facial myokymia	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0000317	HP:0000317	Facial myokymia	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional	60
HP:0000317	HP:0000317	Facial myokymia	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0000317	HP:0000317	Facial myokymia	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0000317	HP:0000317	Facial myokymia	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126

Genes (8) :ABCD1 ADCY5 ATP13A2 LGI3 PNPT1 PPP2R2B PRKCG SPTBN2

Diseases (10) :ORPHA:139396 OMIM:606703 ORPHA:324588 ORPHA:513436 OMIM:620007 OMIM:608703 ORPHA:101111 OMIM:604326 OMIM:605361 OMIM:600224

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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