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 eye movement (HP:0000496)

Parent Node:
Abnormal saccadic eye movements (HP:0000570)

..Starting node
..Hypometric saccades (HP:0000571)

Term ID:

571

Name:

Hypometric saccades

Synonym:

Definition:

Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.

Comments:

Reference:

HP:0000571

Genes and Diseases:

Child Nodes:

........

Hypometric horizontal saccades (HP:0007975)

........

Hypometric upward saccades (HP:0031833)

Sister Nodes:

Dysmetric saccades (HP:0000641)

Hypermetric saccades (HP:0007338)

Slow saccadic eye movements (HP:0000514)

Square-wave jerks (HP:0025402)

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:0000571	HP:0000571	Hypometric saccades	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0000571	HP:0000571	Hypometric saccades	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0000571	HP:0000571	Hypometric saccades	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000571	HP:0000571	Hypometric saccades	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	HP:0040283 - Occasional	6
HP:0000571	HP:0000571	Hypometric saccades	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000571	HP:0000571	Hypometric saccades	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent	8
HP:0000571	HP:0000571	Hypometric saccades	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0000571	HP:0000571	Hypometric saccades	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare	140
HP:0000571	HP:0000571	Hypometric saccades	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0000571	HP:0000571	Hypometric saccades	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0000571	HP:0000571	Hypometric saccades	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0000571	HP:0000571	Hypometric saccades	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0000571	HP:0000571	Hypometric saccades	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent	2
HP:0000571	HP:0000571	Hypometric saccades	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0000571	HP:0000571	Hypometric saccades	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0000571	HP:0000571	Hypometric saccades	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0000571	HP:0000571	Hypometric saccades	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000571	HP:0000571	Hypometric saccades	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	HP:0040283 - Occasional	63
HP:0000571	HP:0000571	Hypometric saccades	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional	126
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000571	HP:0031833	Hypometric upward saccades	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133

Genes (15) :APTX CACNA1G COQ5 DNAJC6 GBA1 GRM1 MAPT MME MRE11 MYORG NKX6-2 NPHP1 PLA2G6 SLC1A3 SPTBN2

Diseases (19) :OMIM:208920 ORPHA:458803 OMIM:619028 OMIM:615528 OMIM:231005 ORPHA:324262 OMIM:614831 ORPHA:240094 OMIM:617018 ORPHA:497764 OMIM:604391 OMIM:618317 ORPHA:527497 OMIM:617560 OMIM:609583 ORPHA:199351 OMIM:612953 OMIM:612656 OMIM:615386

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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