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:
Ophthalmoparesis (HP:0000597)

Parent Node:
Ophthalmoplegia (HP:0000602)

..Starting node
..External ophthalmoplegia (HP:0000544)

Term ID:

544

Name:

External ophthalmoplegia

Synonym:

Chronic progressive external ophthalmoplegia; CPEO; Ophthalmoplegia externa; Paralysis or weakness of muscles within or surrounding outer part of eye; Progressive paralysis or weakness of muscles of eye motility; Progressive paralysis or weakness of muscles of eye movement

Definition:

Paralysis of the external ocular muscles.

Comments:

Reference:

HP:0000544

Genes and Diseases:

Child Nodes:

........

Progressive external ophthalmoplegia (HP:0000590)

........

Recurrent external ophthalmoplegia (HP:0007250)

........

Nonprogressive restrictive external ophthalmoplegia (HP:0007831)

........

Restrictive external ophthalmoplegia (HP:0007936)

................... HP:0007867 Restrictive partial external ophthalmoplegia

Sister Nodes:

Internal ophthalmoplegia (HP:0007942)

Internuclear ophthalmoplegia (HP:0030773)

Progressive ophthalmoplegia (HP:0007650)

Supranuclear ophthalmoplegia (HP:0000623)

Total ophthalmoplegia (HP:0007824)

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:0000544	HP:0000544	External ophthalmoplegia	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000544	HP:0000544	External ophthalmoplegia	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000544	HP:0000544	External ophthalmoplegia	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0000544	HP:0000544	External ophthalmoplegia	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0000544	HP:0000544	External ophthalmoplegia	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0000544	HP:0000544	External ophthalmoplegia	0	MT-TE CL E G H	4556	225	Radial ray agenesis			ORPHA	1		7479	590025
HP:0000544	HP:0000544	External ophthalmoplegia	0	MT-TK CL E G H	4566	225	Radial ray agenesis			ORPHA	1		7489	590060
HP:0000544	HP:0000544	External ophthalmoplegia	0	MT-TL1 CL E G H	4567	225	Radial ray agenesis			ORPHA	1		7490	590050
HP:0000544	HP:0000544	External ophthalmoplegia	0	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000544	HP:0000544	External ophthalmoplegia	0	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	807	7448	300415
HP:0000544	HP:0000544	External ophthalmoplegia	0	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000544	HP:0000544	External ophthalmoplegia	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000544	HP:0000544	External ophthalmoplegia	0	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0000544	HP:0000544	External ophthalmoplegia	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000544	HP:0000544	External ophthalmoplegia	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000544	HP:0000544	External ophthalmoplegia	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000544	HP:0000544	External ophthalmoplegia	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000544	HP:0000544	External ophthalmoplegia	0	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0000544	HP:0000544	External ophthalmoplegia	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000544	HP:0000544	External ophthalmoplegia	0	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0000544	HP:0000544	External ophthalmoplegia	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000544	HP:0000544	External ophthalmoplegia	0	SALL4 CL E G H	57167	147750	IVIC syndrome	147750	C1327918	OMIM	1	301	15924	607343
HP:0000544	HP:0000544	External ophthalmoplegia	0	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000544	HP:0000544	External ophthalmoplegia	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000544	HP:0000544	External ophthalmoplegia	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000544	HP:0000544	External ophthalmoplegia	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000544	HP:0000544	External ophthalmoplegia	0	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0000544	HP:0000544	External ophthalmoplegia	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000544	HP:0000544	External ophthalmoplegia	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MT-TE CL E G H	4556	225	Radial ray agenesis			ORPHA	1		7479	590025
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MT-TE CL E G H	4556	225	Radial ray agenesis			ORPHA	1		7479	590025
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MT-TE CL E G H	4556	225	Radial ray agenesis			ORPHA	1		7479	590025
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MT-TE CL E G H	4556	225	Radial ray agenesis			ORPHA	1		7479	590025
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MT-TK CL E G H	4566	225	Radial ray agenesis			ORPHA	1		7489	590060
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MT-TK CL E G H	4566	225	Radial ray agenesis			ORPHA	1		7489	590060
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MT-TK CL E G H	4566	225	Radial ray agenesis			ORPHA	1		7489	590060
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MT-TK CL E G H	4566	225	Radial ray agenesis			ORPHA	1		7489	590060
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MT-TL1 CL E G H	4567	225	Radial ray agenesis			ORPHA	1		7490	590050
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MT-TL1 CL E G H	4567	225	Radial ray agenesis			ORPHA	1		7490	590050
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MT-TL1 CL E G H	4567	225	Radial ray agenesis			ORPHA	1		7490	590050
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MT-TL1 CL E G H	4567	225	Radial ray agenesis			ORPHA	1		7490	590050
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	807	7448	300415
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	807	7448	300415
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	807	7448	300415
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	807	7448	300415
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SALL4 CL E G H	57167	147750	IVIC syndrome	147750	C1327918	OMIM	1	301	15924	607343
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SALL4 CL E G H	57167	147750	IVIC syndrome	147750	C1327918	OMIM	1	301	15924	607343
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SALL4 CL E G H	57167	147750	IVIC syndrome	147750	C1327918	OMIM	1	301	15924	607343
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SALL4 CL E G H	57167	147750	IVIC syndrome	147750	C1327918	OMIM	1	301	15924	607343
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MT-TE CL E G H	4556	225	Radial ray agenesis			ORPHA	1		7479	590025
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MT-TK CL E G H	4566	225	Radial ray agenesis			ORPHA	1		7489	590060
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MT-TL1 CL E G H	4567	225	Radial ray agenesis			ORPHA	1		7490	590050
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	807	7448	300415
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SALL4 CL E G H	57167	147750	IVIC syndrome	147750	C1327918	OMIM	1	301	15924	607343
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000544	HP:0000544	External ophthalmoplegia	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	65	7106	607047
HP:0000544	HP:0000544	External ophthalmoplegia	0	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0000544	HP:0000544	External ophthalmoplegia	0	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0000544	HP:0000544	External ophthalmoplegia	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	381	21197	611026
HP:0000544	HP:0000544	External ophthalmoplegia	0	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0000544	HP:0000544	External ophthalmoplegia	0	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0000544	HP:0000544	External ophthalmoplegia	0	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	0	132	28086	609653
HP:0000544	HP:0000544	External ophthalmoplegia	0	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0000544	HP:0000544	External ophthalmoplegia	0	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000544	HP:0000544	External ophthalmoplegia	0	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000544	HP:0000544	External ophthalmoplegia	0	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000544	HP:0000544	External ophthalmoplegia	0	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000544	HP:0000544	External ophthalmoplegia	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	0	635	11386	605921
HP:0000544	HP:0000544	External ophthalmoplegia	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	226	11427	607207
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	65	7106	607047
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	65	7106	607047
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	65	7106	607047
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	65	7106	607047
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	381	21197	611026
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	381	21197	611026
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	381	21197	611026
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	381	21197	611026
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	0	132	28086	609653
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	0	132	28086	609653
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	0	132	28086	609653
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	0	132	28086	609653
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	0	635	11386	605921
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	0	635	11386	605921
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	0	635	11386	605921
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	0	635	11386	605921
HP:0000544	HP:0007250	Recurrent external ophthalmoplegia	1	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	226	11427	607207
HP:0000544	HP:0000590	Progressive external ophthalmoplegia	1	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	226	11427	607207
HP:0000544	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	1	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	226	11427	607207
HP:0000544	HP:0007936	Restrictive external ophthalmoplegia	1	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	226	11427	607207
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	65	7106	607047
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	381	21197	611026
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	0	132	28086	609653
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	0	635	11386	605921
HP:0000544	HP:0007867	Restrictive partial external ophthalmoplegia	2	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	226	11427	607207

Genes (54) :ACADS APTX ATP8 ATXN3 BIN1 C1QBP DGUOK DNA2 DNM2 FA2H FRG1 KIF21A LYRM7 MFF MGME1 MT-TE MT-TK MT-TL1 MTM1 MTMR14 MYF5 MYF6 NDUFAF2 OPA1 PHOX2A POLG POLG2 RNASEH1 RRM2B RYR1 SALL4 SCN4A SDHA SDHAF1 SDHB SDHD SLC19A3 SLC25A4 SLC52A3 STIM1 STUB1 TK2 TOP3A TRNE TRNK TRNL1 TRNL2 TRNN TRNS1 TRNT TUBB3 TWNK TYMP VARS2

Diseases (60) :109150 169189 615156 160150 612319 158900 615838 617086 596 310400 618155 618233 254892 254886 298 616479 612075 98905 255320 147750 614198 3208 607483 211530 160565 615768 225 201470 208920 480 276241 276244 276238 617713 329314 617070 352470 135700 352447 615084 165500 602078 157640 258450 603041 613662 607459 610131 329336 613077 609283 254875 617069 618098 1349 663 254857 600638 609286 615917

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

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