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:
Abnormal cranial nerve morphology (HP:0001291)

Parent Node:
Ophthalmoparesis (HP:0000597)

..Starting node
..Oculomotor nerve palsy (HP:0012246)

Term ID:

12246

Name:

Oculomotor nerve palsy

Synonym:

Oculomotor neuropathy

Definition:

Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).

Comments:

Reference:

HP:0012246

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ophthalmoplegia (HP:0000602)

Setting-sun eye phenomenon (HP:0012470)

Static ophthalmoparesis (HP:0008507)

Weak extraocular muscles (HP:0007715)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	1	135	1943	118423
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	1	78	18603	610004
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	1	153	6408	608968
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	ANGPTL6 CL E G H	83854	231160				ORPHA	0	40	23140	609336
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	COL3A1 CL E G H	1281	231160				ORPHA	0	2528	2201	120180
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	ENG CL E G H	2022	231160				ORPHA	0	1413	3349	131195
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	TGFBR3 CL E G H	7049	231160				ORPHA	0	63	11774	600742
HP:0012246	HP:0012246	Oculomotor nerve palsy	0	UGT1A1 CL E G H	54658	79234				ORPHA	0	315	12530	191740

Genes (14) :AIP ANGPTL6 CDH23 CHN1 COL25A1 COL3A1 ENG MAFB MEN1 MYMK PLEC TGFBR3 TRPV4 UGT1A1

Diseases (8) :2965 231160 91347 233 254940 257 606071 79234

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

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