Human Phenotype Ontology

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:0003200	HP:0003200	Ragged-red muscle fibers	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	575	8768	300169
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	CHCHD10 CL E G H	400916	457050				ORPHA	1	297	15559	615903
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	346	25223	609825
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ATP8 CL E G H	4509	480				ORPHA	1		7415	516070
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TK CL E G H	4566	1349	Chromosome 9, partial monosomy 9p		C2931695	ORPHA	1		7489	590060
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL1 CL E G H	4567	480				ORPHA	1		7490	590050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	4106	7577	160760
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	RRM2B CL E G H	50484	480				ORPHA	1	354	17296	604712
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	1	142	20661	611037
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SLC25A32 CL E G H	81034	616839	Exercise intolerance, riboflavin-responsive	616839	C4225187	OMIM	1	174	29683	610815
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	SPG7 CL E G H	6687	99013				ORPHA	1	966	11237	602783
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	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:0003200	HP:0003200	Ragged-red muscle fibers	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	0	335	23159	607905
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0003200	HP:0003200	Ragged-red muscle fibers	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320