Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant		197
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	.	31
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0100299	HP:0100299	Muscle fiber inclusion bodies	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0100299	HP:0025200	Muscle fiber actin filament accumulation	1	CL E G H
HP:0100299	HP:0100304	Muscle fiber intranuclear inclusion bodies	1	CL E G H
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0100299	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0100299	HP:0100302	Muscle fiber tubuloreticular inclusions	2	CL E G H
HP:0100299	HP:0100300	Desmin bodies	2	CL E G H
HP:0100299	HP:0003798	Nemaline bodies	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	96
HP:0100299	HP:0003798	Nemaline bodies	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	96
HP:0100299	HP:0003798	Nemaline bodies	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0100299	HP:0003798	Nemaline bodies	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0100299	HP:0003798	Nemaline bodies	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0100299	HP:0003798	Nemaline bodies	2	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0100299	HP:0003798	Nemaline bodies	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0100299	HP:0003798	Nemaline bodies	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0100299	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0100299	HP:0003798	Nemaline bodies	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	80
HP:0100299	HP:0003798	Nemaline bodies	2	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0100299	HP:0003798	Nemaline bodies	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0100299	HP:0003798	Nemaline bodies	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0100299	HP:0003798	Nemaline bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	13
HP:0100299	HP:0003798	Nemaline bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	13
HP:0100299	HP:0003798	Nemaline bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0100299	HP:0003798	Nemaline bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0100299	HP:0003798	Nemaline bodies	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100299	HP:0003798	Nemaline bodies	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0100299	HP:0003798	Nemaline bodies	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0100299	HP:0100306	Muscle fiber hyaline bodies	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100299	HP:0003798	Nemaline bodies	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0100299	HP:0003798	Nemaline bodies	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	217
HP:0100299	HP:0003798	Nemaline bodies	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0100299	HP:0003798	Nemaline bodies	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.	9
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	745
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	745
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0100299	HP:0003798	Nemaline bodies	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0100299	HP:0003798	Nemaline bodies	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0100299	HP:0003798	Nemaline bodies	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0100299	HP:0003798	Nemaline bodies	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional	1200
HP:0100299	HP:0003798	Nemaline bodies	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0100299	HP:0003798	Nemaline bodies	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0100299	HP:0003798	Nemaline bodies	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0100299	HP:0100301	Muscle fiber tubular inclusions	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0100299	HP:0003798	Nemaline bodies	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0100299	HP:0003798	Nemaline bodies	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	54
HP:0100299	HP:0003798	Nemaline bodies	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0100299	HP:0003798	Nemaline bodies	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0100299	HP:0003798	Nemaline bodies	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	108
HP:0100299	HP:0003798	Nemaline bodies	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	108
HP:0100299	HP:0003798	Nemaline bodies	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108