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 facial musculature (HP:0000301)

Parent Node:
Muscle weakness (HP:0001324)

Parent Node:
Weakness of facial musculature (HP:0030319)

..Starting node
..Weakness of orbicularis oculi muscle (HP:0012507)

Term ID:

12507

Name:

Weakness of orbicularis oculi muscle

Synonym:

Weakness of orbicularis oculi muscles

Definition:

Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.

Comments:

Reference:

HP:0012507

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial palsy (HP:0010628)

Facial paralysis (HP:0007209)

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:0012507	HP:0012507	Weakness of orbicularis oculi muscle	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0012507	HP:0012507	Weakness of orbicularis oculi muscle	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional

Genes (2) :MYH7 TRNE

Diseases (2) :ORPHA:59135 ORPHA:2596

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.