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

..Starting node
..Oculomotor synkinesis (HP:0033851)

Term ID:

33851

Name:

Oculomotor synkinesis

Synonym:

Definition:

Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.

Comments:

Reference:

HP:0033851

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033851	HP:0033851	Oculomotor synkinesis	0	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN

Genes (1) :ACKR3

Diseases (1) :OMIM:619215

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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