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 ocular smooth pursuit (HP:0000617)

Parent Node:
Impaired smooth pursuit (HP:0007772)

..Starting node
..Impaired horizontal smooth pursuit (HP:0001151)

Term ID:

1151

Name:

Impaired horizontal smooth pursuit

Synonym:

Abnormal horizontal ocular pursuit; Impaired horizontal visual pursuit

Definition:

An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.

Comments:

Reference:

HP:0001151

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent smooth pursuit (HP:0007179)

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:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	44	7106	607047
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	EEF2 CL E G H	1938	101112				ORPHA	1	174	3214	130610
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	EEF2 CL E G H	1938	101112				ORPHA	1	170	3214	130610
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	170	3214	130610
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	174	3214	130610
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	297	30348	614366
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	326	30348	614366
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	779	11444	602926
HP:0001151	HP:0001151	Impaired horizontal smooth pursuit	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	714	11444	602926
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (6) :ATXN1 ATXN2 ATXN3 EEF2 POLR3B STXBP1

Diseases (7) :164400 183090 109150 101112 609306 614381 612164

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

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