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 saccadic eye movements (HP:0000570)

Parent Node:
Hypometric saccades (HP:0000571)

..Starting node
..Hypometric upward saccades (HP:0031833)

Term ID:

31833

Name:

Hypometric upward saccades

Synonym:

Definition:

Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.

Comments:

Reference:

HP:0031833

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypometric horizontal saccades (HP:0007975)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031833	HP:0031833	Hypometric upward saccades	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	133

Genes (1) :PLA2G6

Diseases (1) :OMIM:612953

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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