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
..Absent smooth pursuit (HP:0007179)

Term ID:

7179

Name:

Absent smooth pursuit

Synonym:

Definition:

A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

Comments:

Reference:

HP:0007179

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired horizontal smooth pursuit (HP:0001151)

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:0007179	HP:0007179	Absent smooth pursuit	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0007179	HP:0007179	Absent smooth pursuit	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.	47
HP:0007179	HP:0007179	Absent smooth pursuit	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0007179	HP:0007179	Absent smooth pursuit	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent	16
HP:0007179	HP:0007179	Absent smooth pursuit	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16

Genes (4) :DPM2 FGF14 RARS1 TBCD

Diseases (5) :ORPHA:329178 OMIM:193003 ORPHA:438114 ORPHA:496641 OMIM:617193

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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