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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000571	HP:0000571	Hypometric saccades	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0000571	HP:0000571	Hypometric saccades	0	GRM1 CL E G H	2911	324262				ORPHA	1	216	4593	604473
HP:0000571	HP:0000571	Hypometric saccades	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	216	4593	604473
HP:0000571	HP:0000571	Hypometric saccades	0	MME CL E G H	4311	497764				ORPHA	1	422	7154	120520
HP:0000571	HP:0000571	Hypometric saccades	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0000571	HP:0000571	Hypometric saccades	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	172	19321	605955
HP:0000571	HP:0000571	Hypometric saccades	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0000571	HP:0000571	Hypometric saccades	0	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	653	7905	607100
HP:0000571	HP:0000571	Hypometric saccades	0	PLA2G6 CL E G H	8398	199351				ORPHA	1	598	9039	603604
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0000571	HP:0031833	Hypometric upward saccades	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0000571	HP:0031833	Hypometric upward saccades	1	GRM1 CL E G H	2911	324262				ORPHA	1	216	4593	604473
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	GRM1 CL E G H	2911	324262				ORPHA	1	216	4593	604473
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	216	4593	604473
HP:0000571	HP:0031833	Hypometric upward saccades	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	216	4593	604473
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	MME CL E G H	4311	497764				ORPHA	1	422	7154	120520
HP:0000571	HP:0031833	Hypometric upward saccades	1	MME CL E G H	4311	497764				ORPHA	1	422	7154	120520
HP:0000571	HP:0031833	Hypometric upward saccades	1	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0000571	HP:0031833	Hypometric upward saccades	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	172	19321	605955
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	172	19321	605955
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0000571	HP:0031833	Hypometric upward saccades	1	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0000571	HP:0031833	Hypometric upward saccades	1	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	653	7905	607100
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	653	7905	607100
HP:0000571	HP:0031833	Hypometric upward saccades	1	PLA2G6 CL E G H	8398	199351				ORPHA	1	598	9039	603604
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	PLA2G6 CL E G H	8398	199351				ORPHA	1	598	9039	603604
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000571	HP:0000571	Hypometric saccades	0	CACNA1G CL E G H	8913	458803				ORPHA	0	445	1394	604065
HP:0000571	HP:0000571	Hypometric saccades	0	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	0	235	15469	608375
HP:0000571	HP:0000571	Hypometric saccades	0	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	0	422	7154	120520
HP:0000571	HP:0000571	Hypometric saccades	0	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	0	206	10941	600111
HP:0000571	HP:0000571	Hypometric saccades	0	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	0	716	11276	604985
HP:0000571	HP:0031833	Hypometric upward saccades	1	CACNA1G CL E G H	8913	458803				ORPHA	0	445	1394	604065
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	CACNA1G CL E G H	8913	458803				ORPHA	0	445	1394	604065
HP:0000571	HP:0031833	Hypometric upward saccades	1	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	0	235	15469	608375
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	0	235	15469	608375
HP:0000571	HP:0031833	Hypometric upward saccades	1	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	0	422	7154	120520
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	0	422	7154	120520
HP:0000571	HP:0031833	Hypometric upward saccades	1	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	0	206	10941	600111
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	0	206	10941	600111
HP:0000571	HP:0031833	Hypometric upward saccades	1	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	0	716	11276	604985
HP:0000571	HP:0007975	Hypometric horizontal saccades	1	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	0	716	11276	604985

Genes (12) :APTX CACNA1G DNAJC6 GBA GRM1 MME MRE11 NKX6-2 NPHP1 PLA2G6 SLC1A3 SPTBN2

Diseases (15) :208920 458803 615528 324262 614831 497764 617018 604391 527497 617560 609583 199351 612656 615386 231005

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

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