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:
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	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:0007715	HP:0007715	Weak extraocular muscles	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0007715	HP:0007715	Weak extraocular muscles	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0007715	HP:0007715	Weak extraocular muscles	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0007715	HP:0007715	Weak extraocular muscles	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0007715	HP:0007715	Weak extraocular muscles	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0007715	HP:0007715	Weak extraocular muscles	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0007715	HP:0007715	Weak extraocular muscles	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0007715	HP:0007715	Weak extraocular muscles	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0007715	HP:0007715	Weak extraocular muscles	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0007715	HP:0007715	Weak extraocular muscles	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0007715	HP:0007715	Weak extraocular muscles	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0007715	HP:0007715	Weak extraocular muscles	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional

Genes (12) :ACTN2 AKT1 BAP1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (2) :OMIM:618654 ORPHA:2495

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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