Human Phenotype Ontology

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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
..Supranuclear ophthalmoplegia (HP:0000623)

Term ID:

623

Name:

Supranuclear ophthalmoplegia

Synonym:

Definition:

A vertical gaze palsy with inability to direct the gaze of the eyes downwards.

Comments:

Reference:

HP:0000623

Genes and Diseases:

Child Nodes:

Sister Nodes:

External ophthalmoplegia (HP:0000544)

Internal ophthalmoplegia (HP:0007942)

Internuclear ophthalmoplegia (HP:0030773)

Progressive ophthalmoplegia (HP:0007650)

Total ophthalmoplegia (HP:0007824)

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:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0000623	HP:0000623	Supranuclear ophthalmoplegia	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.

Genes (5) :ATXN1 ATXN2 ATXN3 ATXN7 GBA1

Diseases (8) :OMIM:164400 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 OMIM:231005

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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