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 eye movement (HP:0000496)

Parent Node:
Ophthalmoparesis (HP:0000597)

..Starting node
..Weak extraocular muscles (HP:0007715)

Term ID:

7715

Name:

Weak extraocular muscles

Synonym:

Definition:

Comments:

Reference:

HP:0007715

Genes and Diseases:

Child Nodes:

Sister Nodes:

Oculomotor nerve palsy (HP:0012246)

Ophthalmoplegia (HP:0000602)

Setting-sun eye phenomenon (HP:0012470)

Static ophthalmoparesis (HP:0008507)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007715	HP:0007715	Weak extraocular muscles	0	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.