Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Ophthalmoparesis (HP:0000597)

Parent Node:
Ophthalmoplegia (HP:0000602)

..Starting node
..Total ophthalmoplegia (HP:0007824)

Term ID:

7824

Name:

Total ophthalmoplegia

Synonym:

Complete ophthalmoplegia; Global paralysis of gaze; Total internal and external ophthalmoplegia

Definition:

Paralysis of both the extrinsic and intrinsic ocular muscles.

Comments:

Reference:

HP:0007824

Genes and Diseases:

Child Nodes:

Sister Nodes:

External ophthalmoplegia (HP:0000544)

Internal ophthalmoplegia (HP:0007942)

Internuclear ophthalmoplegia (HP:0030773)

Progressive ophthalmoplegia (HP:0007650)

Supranuclear ophthalmoplegia (HP:0000623)

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:0007824	HP:0007824	Total ophthalmoplegia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0007824	HP:0007824	Total ophthalmoplegia	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464

Genes (2) :GRIN1 POLG

Diseases (2) :ORPHA:208447 OMIM:157640

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