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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of eye movement (HP:0000496)

..Starting node
..Marcus Gunn jaw winking synkinesis (HP:0025186)

Term ID:

25186

Name:

Marcus Gunn jaw winking synkinesis

Synonym:

Marcus Gunn jaw-winking syndrome; Pterygoid-levator synkinesis; Trigemino-oculomotor synkinesis

Definition:

Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.

Comments:

Reference:

HP:0025186

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal conjugate eye movement (HP:0000549)

Abnormal involuntary eye movements (HP:0012547)

Abnormal ocular alignment (HP:0500073)

Abnormal saccadic eye movements (HP:0000570)

Abnormal visual fixation (HP:0025404)

Abnormality of ocular abduction (HP:0011347)

Abnormality of ocular smooth pursuit (HP:0000617)

Compensatory head posture (HP:0031705)

Impaired ocular adduction (HP:0000542)

Limited extraocular movements (HP:0007941)

Oculomotor apraxia (HP:0000657)

Ophthalmoparesis (HP:0000597)

Visual gaze preference (HP:0025518)

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:0025186	HP:0025186	Marcus Gunn jaw winking synkinesis	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0025186	HP:0025186	Marcus Gunn jaw winking synkinesis	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8

Genes (2) :TOGARAM1 WDR26

Diseases (2) :OMIM:619185 ORPHA:513456

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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