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 the eye (HP:0000478)

Parent Node:
Abnormal eye physiology (HP:0012373)

..Starting node
..Abnormality of eye movement (HP:0000496)

Term ID:

496

Name:

Abnormality of eye movement

Synonym:

Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities

Definition:

An abnormality in voluntary or involuntary eye movements or their control.

Comments:

Reference:

HP:0000496

Genes and Diseases:

Child Nodes:

........

Impaired ocular adduction (HP:0000542)

........

Abnormal conjugate eye movement (HP:0000549)

................... HP:0000486 Strabismus
................... HP:0000605 Supranuclear gaze palsy
................... HP:0000619 Impaired convergence

........

Abnormality of saccadic eye movements (HP:0000570)

................... HP:0000514 Slow saccadic eye movements
................... HP:0000571 Hypometric saccades
................... HP:0000641 Dysmetric saccades
................... HP:0007338 Hypermetric saccades
................... HP:0025402 Square-wave jerks

........

Ophthalmoparesis (HP:0000597)

................... HP:0000602 Ophthalmoplegia
................... HP:0007715 Weak extraocular muscles
................... HP:0008507 Static ophthalmoparesis
................... HP:0012246 Oculomotor nerve palsy
................... HP:0012470 Setting-sun eye phenomenon

........

Abnormality of ocular smooth pursuit (HP:0000617)

................... HP:0001152 Saccadic smooth pursuit
................... HP:0007668 Impaired pursuit initiation and maintenance
................... HP:0007772 Impaired smooth pursuit
................... HP:0008003 Jerky ocular pursuit movements

........

Oculomotor apraxia (HP:0000657)

........

Limited extraocular movements (HP:0007941)

........

Abnormality of ocular abduction (HP:0011347)

................... HP:0000497 Globe retraction and deviation on abduction
................... HP:0000634 Impaired ocular abduction

........

Abnormal involuntary eye movements (HP:0012547)

................... HP:0000639 Nystagmus
................... HP:0007295 Chaotic rapid conjugate ocular movements
................... HP:0007704 Paroxysmal involuntary eye movements
................... HP:0007738 Uncontrolled eye movements
................... HP:0010543 Opsoclonus

........

Marcus Gunn jaw winking synkinesis (HP:0025186)

........

Abnormal visual fixation (HP:0025404)

................... HP:0025405 Visual fixation instability
................... HP:0025549 Eccentric visual fixation

........

Visual gaze preference (HP:0025518)

........

Compensatory head posture (HP:0031705)

................... HP:0001477 Compensatory chin elevation
................... HP:0031706 Compensatory chin depression
................... HP:0031707 Compensatory face turn to the right
................... HP:0031708 Compensatory face turn to the left
................... HP:0031709 Compensatory head tilt to the right shoulder
................... HP:0031710 Compensatory head tilt to the left shoulder

........

Abnormal ocular alignment (HP:0500073)

................... HP:0500074 Dissociated vertical deviation
................... HP:0500075 Dissociated horizontal deviation

Sister Nodes:

Abnormal extraocular muscle physiology (HP:0025590)

Abnormal eyelid physiology (HP:0031879)

Abnormal intraocular pressure (HP:0012632)

Abnormal pupillary function (HP:0007686)

Abnormal visual accommodation (HP:0030800)

Abnormal visual electrophysiology (HP:0030453)

Abnormality of refraction (HP:0000539)

Abnormality of vision (HP:0000504)

Asthenopia (HP:0031590)

Congenital stationary cone dysfunction (HP:0030637)

Glaucoma (HP:0000501)

Hemorrhage of the eye (HP:0011885)

Inflammatory abnormality of the eye (HP:0100533)

Lacrimation abnormality (HP:0000632)

Ocular pain (HP:0200026)

Ptosis (HP:0000508)

Staring gaze (HP:0025401)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	0	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	0	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	0	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	0	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	0	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	0	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	0	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	0	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HP:0000496	HP:0000496	Abnormality of eye movement	1	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	1	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	1	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	1	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	1	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	1	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	1	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	1	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	1	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	1	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	1	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	1	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	1	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	1	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	1	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	1	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	1	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	1	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	1	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	1	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	1	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	1	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	1	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	1	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	1	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	1	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	1	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	1	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	1	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	1	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	1	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HP:0000496	HP:0000496	Abnormality of eye movement	2	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	2	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	2	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	2	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	2	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	2	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	2	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	2	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	2	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	2	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	2	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	2	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	2	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	2	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	2	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	2	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	2	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	2	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	2	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	2	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	2	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	2	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	2	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	2	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	2	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	2	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	2	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	2	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	2	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	2	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	2	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	2	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	2	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	2	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HP:0000496	HP:0000496	Abnormality of eye movement	3	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	3	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	3	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	3	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	3	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	3	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	3	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	3	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	3	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	3	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	3	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	3	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	3	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	3	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	3	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	3	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	3	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	3	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	3	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	3	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	3	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	3	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	3	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	3	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	3	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	3	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	3	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	3	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	3	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	3	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	3	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	3	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	3	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	3	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HP:0000496	HP:0000496	Abnormality of eye movement	4	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	4	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	4	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	4	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	4	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	4	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	4	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	4	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	4	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	4	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	4	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	4	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	4	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	4	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	4	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	4	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	4	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	4	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	4	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	4	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	4	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	4	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	4	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	4	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	4	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	4	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	4	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	4	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	4	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	4	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	4	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	4	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	4	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	4	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HP:0000496	HP:0000496	Abnormality of eye movement	5	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	5	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	5	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	5	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	5	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	5	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	5	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	5	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	5	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	5	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	5	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	5	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	5	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	5	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	5	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	5	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	5	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	5	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	5	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	5	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	5	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	5	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	5	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	5	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	5	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	5	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	5	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	5	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	5	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	5	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	5	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	5	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	5	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	5	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	5	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HP:0000496	HP:0000496	Abnormality of eye movement	6	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	465	408	610045
HP:0000496	HP:0000496	Abnormality of eye movement	6	ALS2 CL E G H	57679	293168				ORPHA	1	73	515	443	606352
HP:0000496	HP:0000496	Abnormality of eye movement	6	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	250	20730	617612
HP:0000496	HP:0000496	Abnormality of eye movement	6	CACNB4 CL E G H	785	307				ORPHA	1	7	299	1404	601949
HP:0000496	HP:0000496	Abnormality of eye movement	6	CLCN2 CL E G H	1181	307				ORPHA	1	44	153	2020	600570
HP:0000496	HP:0000496	Abnormality of eye movement	6	EFHC1 CL E G H	114327	1941				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	6	EFHC1 CL E G H	114327	307				ORPHA	1	38	415	16406	608815
HP:0000496	HP:0000496	Abnormality of eye movement	6	GABRA1 CL E G H	2554	307				ORPHA	1	48	409	4075	137160
HP:0000496	HP:0000496	Abnormality of eye movement	6	GABRD CL E G H	2563	307				ORPHA	1	7	337	4084	137163
HP:0000496	HP:0000496	Abnormality of eye movement	6	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	253	4193	600225
HP:0000496	HP:0000496	Abnormality of eye movement	6	HOXA1 CL E G H	3198	601536	Athabaskan brainstem dysgenesis	601536	C1832215	OMIM	1	8	112	5099	142955
HP:0000496	HP:0000496	Abnormality of eye movement	6	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	8	143	4851	613004
HP:0000496	HP:0000496	Abnormality of eye movement	6	ICK CL E G H	22858	307				ORPHA	1	3		21219	612325
HP:0000496	HP:0000496	Abnormality of eye movement	6	JRK CL E G H	8629	307				ORPHA	1	2	64	6199	603210
HP:0000496	HP:0000496	Abnormality of eye movement	6	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	96	6267	600877
HP:0000496	HP:0000496	Abnormality of eye movement	6	KCNQ3 CL E G H	3786	307				ORPHA	1	25	866	6297	602232
HP:0000496	HP:0000496	Abnormality of eye movement	6	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	319	19960	610178
HP:0000496	HP:0000496	Abnormality of eye movement	6	KIF1A CL E G H	547	2836				ORPHA	1	43	1405	888	601255
HP:0000496	HP:0000496	Abnormality of eye movement	6	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	206	6901	600521
HP:0000496	HP:0000496	Abnormality of eye movement	6	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	3	18	17194	609435
HP:0000496	HP:0000496	Abnormality of eye movement	6	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	513	8806	300502
HP:0000496	HP:0000496	Abnormality of eye movement	6	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	228	21350	608769
HP:0000496	HP:0000496	Abnormality of eye movement	6	PNPO CL E G H	55163	79096				ORPHA	1	31	224	30260	603287
HP:0000496	HP:0000496	Abnormality of eye movement	6	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	6	35	9305	604325
HP:0000496	HP:0000496	Abnormality of eye movement	6	PSAP CL E G H	5660	139406				ORPHA	1	27	388	9498	176801
HP:0000496	HP:0000496	Abnormality of eye movement	6	RS1 CL E G H	6247	792				ORPHA	1	279	548	10457	300839
HP:0000496	HP:0000496	Abnormality of eye movement	6	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	78	10935	193001
HP:0000496	HP:0000496	Abnormality of eye movement	6	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	323	30224	607882
HP:0000496	HP:0000496	Abnormality of eye movement	6	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	313	16187	613350
HP:0000496	HP:0000496	Abnormality of eye movement	6	SNAP29 CL E G H	9342	66631				ORPHA	1	13	562	11133	604202
HP:0000496	HP:0000496	Abnormality of eye movement	6	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	6	TCTN3 CL E G H	26123	614815	Joubert syndrome 18	614815	C3553758	OMIM	1	12	142	24519	613847
HP:0000496	HP:0000496	Abnormality of eye movement	6	WDR45 CL E G H	11152	329284				ORPHA	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	6	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	78	422	28912	300526
HP:0000496	HP:0000496	Abnormality of eye movement	6	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	108	12309	604500
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	0	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	0	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650
HP:0000496	HP:0000496	Abnormality of eye movement	1	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	1	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	1	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	1	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	1	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	1	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	1	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	1	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650
HP:0000496	HP:0000496	Abnormality of eye movement	2	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	2	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	2	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	2	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	2	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	2	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	2	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	2	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650
HP:0000496	HP:0000496	Abnormality of eye movement	3	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	3	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	3	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	3	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	3	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	3	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	3	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	3	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650
HP:0000496	HP:0000496	Abnormality of eye movement	4	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	4	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	4	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	4	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	4	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	4	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	4	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	4	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650
HP:0000496	HP:0000496	Abnormality of eye movement	5	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	5	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	5	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	5	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	5	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	5	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	5	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	5	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650
HP:0000496	HP:0000496	Abnormality of eye movement	6	ATP1A3 CL E G H	478	1171				ORPHA	0	122	597	801	182350
HP:0000496	HP:0000496	Abnormality of eye movement	6	CAPN1 CL E G H	823	488594				ORPHA	0	18	80	1476	114220
HP:0000496	HP:0000496	Abnormality of eye movement	6	ERLIN2 CL E G H	11160	209951				ORPHA	0	15	135	1356	611605
HP:0000496	HP:0000496	Abnormality of eye movement	6	FTL CL E G H	2512	157846				ORPHA	0	64	103	3999	134790
HP:0000496	HP:0000496	Abnormality of eye movement	6	GCDH CL E G H	2639	25				ORPHA	0	244	463	4189	608801
HP:0000496	HP:0000496	Abnormality of eye movement	6	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	28	462	18873	606951
HP:0000496	HP:0000496	Abnormality of eye movement	6	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	0	45	346	15840	606834
HP:0000496	HP:0000496	Abnormality of eye movement	6	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	282	11535	313650

Genes (1294) :A2ML1 AARS AARS2 ABCA4 ABCA7 ABCB7 ABCC8 ABHD12 ABHD5 ACADS ACADSB ACO2 ACOX1 ACOX2 ACSL4 ACTA1 ADA2 ADAMTSL4 ADAR ADAT3 ADD3 ADGRG1 ADGRV1 ADNP ADPRHL2 ADSL AFG3L2 AGBL5 AGK AGRN AGTPBP1 AHCY AHDC1 AHI1 AHR AIMP1 AIP AIPL1 AK9 AKT1 ALDH18A1 ALDH5A1 ALDH7A1 ALG11 ALG13 ALG2 ALG3 ALG6 ALG9 ALMS1 ALS2 ALX3 ALX4 AMMECR1 ANGPTL6 ANK1 ANKRD11 ANO10 ANOS1 ANTXR1 AP1S2 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APP APTX ARHGAP31 ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARV1 ARVCF ARX ASAH1 ASCL1 ASPA ASXL1 ASXL3 ATAD3A ATCAY ATF6 ATM ATN1 ATOH7 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP6 ATP6V0A2 ATP6V1A ATP6V1E1 ATP8 ATP8A2 ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUTS2 B3GALNT2 B3GAT3 B3GLCT B4GALNT1 B9D1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL11A BCOR BCR BCS1L BDNF BEAN1 BEST1 BIN1 BLOC1S3 BLOC1S6 BMP4 BPTF BRAF BRAT1 BRCA1 BRCA2 BRIP1 BRPF1 BUB1B C12ORF65 C19ORF12 C1QBP C8ORF37 C9ORF72 CA4 CA8 CABP4 CACNA1A CACNA1E CACNA1F CACNA1G CACNA1S CACNA2D4 CACNB4 CAMK2A CAMK2B CAMTA1 CAPN1 CASK CAV1 CC2D2A CCDC141 CCDC174 CCDC88C CCNQ CD96 CDC42 CDC45 CDCA7 CDH11 CDH23 CDH3 CDHR1 CDK13 CDON CEP104 CEP120 CEP152 CEP164 CEP290 CEP41 CEP78 CEP83 CERKL CFAP410 CHAMP1 CHAT CHCHD10 CHD3 CHD7 CHMP1A CHN1 CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CISD2 CLCN2 CLCN4 CLCN7 CLDN16 CLDN19 CLIP2 CLN5 CLP1 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 COG4 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL18A1 COL25A1 COL2A1 COL3A1 COL4A1 COL6A1 COL6A2 COL6A3 COLEC11 COLQ COMT COQ2 COQ8A COX1 COX10 COX15 COX2 COX3 CPLANE1 CPLX1 CRB1 CREBBP CRKL CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CWF19L1 CYB5R3 CYFIP2 CYP1B1 CYP7B1 CYTB DAB1 DACT1 DARS DARS2 DCC DCN DCTN1 DCX DDB2 DDHD2 DDOST DEAF1 DGUOK DHCR24 DHCR7 DHDDS DHODH DHX30 DHX38 DISP1 DKC1 DKK1 DLAT DLG3 DLL1 DLL4 DMPK DNA2 DNAJC12 DNAJC6 DNM1 DNM1L DNM2 DNMT1 DOCK6 DOK7 DPAGT1 DPF2 DPM1 DPM2 DPP6 DPYD DTNBP1 DUSP6 DVL1 DVL3 DYNC2LI1 EARS2 EBF3 EBP ECHS1 EDNRB EEF1A2 EEF2 EFHC1 EFNB1 EGR2 EIF2S3 ELN ELOVL4 ELOVL5 EMC1 ENG EOGT EP300 EPG5 EPRS ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 EVC EVC2 EXOSC2 EXOSC3 EXOSC9 EXT2 EYS EZH2 FA2H FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXL4 FBXO11 FBXO7 FDXR FEZF1 FGD1 FGF12 FGF14 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FKRP FKTN FLI1 FLII FLNA FLRT1 FLRT3 FMR1 FOXC1 FOXE3 FOXH1 FOXL2 FOXP1 FOXRED1 FRG1 FRMD4A FRMD7 FRMPD4 FRRS1L FSCN2 FTL FUS FXN FZD2 GABRA1 GABRA3 GABRB2 GABRD GALC GAN GAS1 GATA4 GATAD2B GBA GBA2 GCDH GCH1 GDF3 GDF5 GDF6 GFER GFM1 GFPT1 GGCX GJA1 GJA8 GJB1 GJB6 GJC2 GK GLI1 GLI2 GLRB GLRX5 GM2A GMNN GMPPA GMPPB GNAQ GNAS GNAT1 GNAT2 GNB1 GNB3 GNB5 GP1BB GPAA1 GPR143 GPR179 GRIA4 GRID2 GRIN1 GRIN2D GRK1 GRM1 GRM6 GTF2E2 GTF2I GTF2IRD1 GUCA1B GUCY2D HACD1 HACE1 HADHA HARS HCN1 HDAC8 HECW2 HERC2 HESX1 HGSNAT HHAT HIBCH HIKESHI HIRA HIST1H1E HMGB3 HMX1 HNRNPU HOXA1 HOXA13 HOXB1 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTT HYLS1 IARS2 IBA57 ICK IDH3B IFIH1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT88 IGBP1 IGF1R IKBKG IL17RD IMPDH1 IMPG2 INPP5E INPP5K IPW IQCB1 IQSEC2 IRF2BPL ISCA2 ITGA7 ITPR1 JAG1 JMJD1C JRK KANSL1 KAT6A KAT6B KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNE5 KCNJ13 KCNJ18 KCNJ6 KCNMA1 KCNQ3 KCNV2 KDM1A KDM5B KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1C KIF21A KIF2A KIF5A KIF7 KISS1R KIZ KLC2 KLF13 KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2D KRAS KRT14 KRT25 KRT5 KRT71 KRT74 L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB2 LARGE1 LBR LCA5 LEMD3 LETM1 LGI4 LIG4 LIM2 LIMK1 LIPH LIPT1 LMNB1 LMOD3 LONP1 LPAR6 LRAT LRIT3 LRMDA LRP4 LRP5 LRPPRC LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MAD2L2 MAF MAFB MAG MAGEL2 MAK MAN2B1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPT MARS2 MASP1 MBD5 MBTPS2 MC1R MCM3AP MCOLN1 MCTP2 MDH2 MECR MED12 MED13L MED25 MEF2C MEN1 MERTK MFF MFN2 MFRP MGME1 MICOS13 MICU1 MID2 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMACHC MMADHC MME MOCS1 MOCS2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRE11 MRPS34 MTFMT MTM1 MTMR14 MTOR MTPAP MTR MTRR MUSK MVK MYF5 MYF6 MYH2 MYH3 MYH7 MYL2 MYMK MYO5A MYO7A MYO9A NAA10 NADK2 NAGA NALCN NANS NARS2 NAXE NBAS ND1 ND4 ND5 ND6 NDN NDP NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEFL NEK2 NELFA NEU1 NEXMIF NFIX NGLY1 NHLRC2 NHS NIPBL NKX6-2 NME1 NMNAT1 NODAL NOG NONO NOP56 NOTCH1 NPAP1 NPC1 NPC2 NPHP1 NPHP4 NR2E3 NR2F1 NRAS NRL NRXN1 NSD1 NSD2 NSDHL NSMF NSUN2 NT5C2 NTRK2 NUBPL NUP62 NUS1 NXN NYX OCA2 OCLN OCRL OFD1 OGT OPA1 OPA3 OPHN1 OPN1LW OPN1MW ORC1 OSGEP OTX2 PABPN1 PACS1 PACS2 PAH PAK1 PALB2 PAX2 PAX3 PAX6 PBX1 PCARE PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFRB PDHA1 PDHX PDP1 PDYN PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF21A PHF6 PHGDH PHIP PHOX2A PHOX2B PHYH PIBF1 PIEZO2 PIGL PIGN PIGS PIGT PIGY PIK3R5 PITX2 PITX3 PLA2G6 PLAA PLD3 PLEC PLEKHG2 PLK4 PLP1 PLPBP PLXND1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPO PNPT1 POC1B POGZ POLG POLG2 POLR1C POLR1D POLR3A POLR3B POMGNT1 POMT1 POMT2 PORCN POU3F4 PPM1D PPP2R2B PPP2R5D PPP3CA PQBP1 PRCD PRDM16 PRDX1 PRKAR1A PRKCG PRKD1 PRMT7 PRNP PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRSS12 PRSS56 PRX PSAP PSEN1 PSEN2 PSMD12 PTCH1 PTCH2 PTEN PTPN11 PTPN22 PTRH2 PUF60 PURA PUS3 PWAR1 PWRN1 PYCR2 RAB11B RAB18 RAB39B RAD21 RAD51 RAD51C RAF1 RAI1 RANBP2 RAP1A RAP1B RAPSN RARS RASA2 RBM8A RBP3 RBPJ RD3 RDH12 RECQL4 REEP6 RERE RET REV3L RFC2 RFWD3 RGR RHO RIT1 RLBP1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF135 RNF216 RNU12 RNU4ATAC ROBO3 ROM1 ROR2 RORA RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPS19 RPS6KA3 RRAS RREB1 RRM2B RS1 RSPRY1 RTN4IP1 RUBCN RYR1 SACS SAG SALL1 SALL2 SALL4 SAMD9L SAMHD1 SATB2 SBF1 SCAPER SCN1A SCN3A SCN4A SCN8A SCO2 SCP2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SEC23A SEC24C SELENON SEMA3A SEMA3E SEMA4A SERPINI1 SETD2 SETD5 SETX SGPL1 SH2B1 SH3TC2 SHANK3 SHH SHOC2 SHROOM4 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A20 SLC25A24 SLC25A4 SLC25A46 SLC29A3 SLC2A1 SLC2A10 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC38A8 SLC39A8 SLC45A2 SLC4A11 SLC52A2 SLC52A3 SLC5A7 SLC6A19 SLC6A3 SLC6A8 SLC7A14 SLC9A1 SLC9A6 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAP25 SNAP29 SNCA SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX10 SNX14 SOBP SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX5 SPAST SPATA5 SPATA7 SPECC1L SPEG SPG11 SPG7 SPR SPRY4 SPTBN2 SQSTM1 SRCAP SRD5A3 SRY SSR4 STIM1 STRADA STT3A STUB1 STX16 STXBP1 SUCLA2 SUFU SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAF2 TARDBP TAT TBC1D23 TBC1D24 TBK1 TBL1XR1 TBL2 TBP TBX1 TBX15 TBX4 TCF12 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TENM3 TFAP2A TFAP2B TGFB3 TGFBI TGFBR1 TGFBR2 TGFBR3 TGIF1 TGM6 TINF2 TK2 TLK2 TMCO1 TMEM106B TMEM107 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM94 TMEM98 TNFRSF11A TNFSF11 TOE1 TOMM40 TOP3A TOPORS TPM2 TPM3 TPP1 TRAF3IP1 TRAK1 TRAPPC11 TRAPPC6B TREM2 TREX1 TRIM32 TRIM37 TRIM44 TRIP12 TRIT1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM1 TRPV4 TSEN15 TSEN54 TSPYL1 TTBK2 TTC19 TTC8 TTI2 TTN TTPA TTR TUB TUBB2B TUBB3 TUBB4A TUBGCP4 TUBGCP6 TUFM TULP1 TWIST1 TWIST2 TWNK TYMP TYR TYROBP TYRP1 UBA1 UBA5 UBE2T UBE3A UBE3B UBR1 UCHL1 UFC1 UFD1 UGT1A1 UNC80 UROC1 USH2A USP8 USP9X VAMP1 VARS2 VCP VHL VLDLR VMA21 VPS13A VPS13B VPS13D VWA3B WAC WARS2 WDPCP WDR11 WDR19 WDR26 WDR35 WDR45 WDR48 WDR73 WDR81 WFS1 WHCR WHRN WNT5A WT1 WWOX XPA XPC XRCC1 XRCC2 XRCC4 XYLT2 YAP1 YARS2 YME1L1 YWHAG YY1 ZBTB16 ZC4H2 ZDHHC9 ZEB2 ZFYVE26 ZIC1 ZIC2 ZNF408 ZNF423 ZNF513 ZNHIT3 ZSWIM6

Diseases (1284) :271980 293168 617622 1171 307 488594 1941 209951 157846 25 233910 601536 143100 615846 435628 616490 2836 617284 257920 618249 312170 245349 79096 604326 139406 792 352649 97229 66631 300966 2753 614815 329284 300894 1020 101109 313772 614487 610246 98913 220493 475 608629 208920 612291 618161 101 98755 183090 617120 261330 115150 289560 618087 79102 216360 1454 616781 617761 610188 614464 254210 608930 601462 605809 608931 98915 603034 550 614615 397715 615636 453521 363710 251880 245348 614388 254300 614678 171629 95 230900 352641 610542 309246 616204 324262 233400 248111 615630 213300 208513 616728 617822 101010 79399 615960 617041 260540 617121 251347 604391 618198 220497 609583 137902 614867 64753 615217 616267 70595 447896 397 88619 618060 611560 607323 99734 682 604377 613724 606002 300523 617595 617143 612716 617145 412057 617757 284271 259700 617562 617563 614465 608091 2752 614970 610688 614969 284324 2770 610031 300570 618076 310440 617633 3454 314580 648 442835 616339 615889 791 827 2802 240800 612674 98907 275630 614559 2971 264470 86818 171433 2020 171430 255310 615688 1885 51 615010 617008 606854 231178 615873 618170 103050 1369 212350 98914 618276 260600 2965 65 744 616603 219150 601162 3006 613661 324422 79326 607906 601110 603147 64 203800 607225 606353 391474 228390 52022 231160 251066 2332 261250 284289 613728 478 2067 230740 1568 608233 284804 617050 280763 613744 612936 3258 821 974 617523 1465 135900 110 3157 567 2508 300004 333 99803 271900 97297 605039 615485 496790 617183 94122 601238 616517 100 208900 125370 513436 306674 606693 617225 569 104290 614820 601338 314978 302500 615228 644 551500 357074 219200 617402 1766 210600 164400 98761 603516 98756 109150 94147 164500 98760 608768 615834 588 709 261540 609195 904 209900 369939 300475 617101 568 256000 893 217012 193220 169186 255200 139471 607932 617755 99872 1340 618056 84 617333 257300 320375 613559 615035 275872 105550 613227 610427 215 97 617106 108500 141500 183086 618285 178333 300476 300600 458803 616795 617798 617799 314647 614756 616907 163937 300749 606721 2318 612285 616816 211750 1308 617063 616910 1299 91347 1897 1573 617360 280200 613823 614845 617236 615862 602271 616579 618205 138 614961 233 199318 612001 616313 616322 616324 2990 601776 3463 300114 667 248250 2196 248190 256731 411493 615803 216900 217080 1873 263501 613489 560 1427 1571 267750 94068 607595 265050 607426 139485 540000 255241 2754 277170 194190 600105 1377 604219 611544 604307 615502 48431 604168 617572 615075 250800 708 100986 270800 615945 857 615281 611105 610048 300067 910 320380 615033 614507 819 329314 35107 602398 818 270400 246 617804 305000 268882 300850 273 617384 615528 314404 614219 608093 618027 608799 615042 274270 614076 3107 289 614924 617330 302960 616277 277580 101112 609306 304110 145900 85282 300148 194050 1955 133190 423296 615957 1493 242840 617951 610758 220295 601675 278760 214150 133540 216400 207 611225 75857 615544 3103 617763 618065 616682 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Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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