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:
Abnormal muscle fiber morphology (HP:0004303)

Parent Node:
Muscle fiber inclusion bodies (HP:0100299)

..Starting node
..Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)

Term ID:

100303

Name:

Muscle fiber cytoplasmatic inclusion bodies

Synonym:

Muscle fiber cytoplasmic bodies; Muscle fibre cytoplasmatic inclusion bodies; Muscle fibre cytoplasmic bodies

Definition:

The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.

Comments:

Reference:

HP:0100303

Genes and Diseases:

Child Nodes:

........

Nemaline bodies (HP:0003798)

........

Desmin bodies (HP:0100300)

........

Muscle fiber tubular inclusions (HP:0100301)

........

Muscle fiber tubuloreticular inclusions (HP:0100302)

........

Muscle fiber hyaline bodies (HP:0100306)

Sister Nodes:

Muscle fiber actin filament accumulation (HP:0025200)

Muscle fiber intranuclear inclusion bodies (HP:0100304)

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:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic 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:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0100303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0100303	HP:0100302	Muscle fiber tubuloreticular inclusions	1	CL E G H
HP:0100303	HP:0100300	Desmin bodies	1	CL E G H
HP:0100303	HP:0003798	Nemaline bodies	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	96
HP:0100303	HP:0003798	Nemaline bodies	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	96
HP:0100303	HP:0003798	Nemaline bodies	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0100303	HP:0003798	Nemaline bodies	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0100303	HP:0003798	Nemaline bodies	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0100303	HP:0003798	Nemaline bodies	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0100303	HP:0003798	Nemaline bodies	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0100303	HP:0003798	Nemaline bodies	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0100303	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0100303	HP:0003798	Nemaline bodies	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	80
HP:0100303	HP:0003798	Nemaline bodies	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0100303	HP:0003798	Nemaline bodies	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0100303	HP:0003798	Nemaline bodies	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0100303	HP:0003798	Nemaline bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	13
HP:0100303	HP:0003798	Nemaline bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	13
HP:0100303	HP:0003798	Nemaline bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0100303	HP:0003798	Nemaline bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0100303	HP:0003798	Nemaline bodies	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0100303	HP:0003798	Nemaline bodies	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0100303	HP:0003798	Nemaline bodies	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0100303	HP:0100306	Muscle fiber hyaline bodies	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100303	HP:0003798	Nemaline bodies	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0100303	HP:0003798	Nemaline bodies	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	217
HP:0100303	HP:0003798	Nemaline bodies	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0100303	HP:0003798	Nemaline bodies	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.	9
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	745
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	745
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0100303	HP:0003798	Nemaline bodies	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0100303	HP:0003798	Nemaline bodies	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0100303	HP:0003798	Nemaline bodies	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0100303	HP:0003798	Nemaline bodies	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional	1200
HP:0100303	HP:0003798	Nemaline bodies	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0100303	HP:0003798	Nemaline bodies	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0100303	HP:0003798	Nemaline bodies	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0100303	HP:0100301	Muscle fiber tubular inclusions	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0100303	HP:0003798	Nemaline bodies	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0100303	HP:0003798	Nemaline bodies	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	54
HP:0100303	HP:0003798	Nemaline bodies	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0100303	HP:0003798	Nemaline bodies	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0100303	HP:0003798	Nemaline bodies	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	108
HP:0100303	HP:0003798	Nemaline bodies	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	108
HP:0100303	HP:0003798	Nemaline bodies	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108

Genes (30) :ACTA1 ALG14 ALG2 CASQ1 CFL2 DPAGT1 FHL1 FLNC GFPT1 GMPPB KBTBD13 KLHL40 KLHL41 KY LMOD3 MYH7 MYO18B MYOT MYPN NDUFB3 NEB NEFL ORAI1 PYROXD1 RYR1 SMPX STIM1 TNNT1 TPM2 TPM3

Diseases (33) :ORPHA:171439 ORPHA:171433 OMIM:161800 ORPHA:171430 ORPHA:171436 ORPHA:97240 ORPHA:353327 ORPHA:2593 OMIM:610687 OMIM:614750 OMIM:300718 OMIM:609524 OMIM:609273 OMIM:615348 OMIM:617114 OMIM:255160 OMIM:616549 OMIM:609200 OMIM:617336 OMIM:618246 OMIM:619334 ORPHA:399103 OMIM:256030 OMIM:607684 OMIM:617258 OMIM:117000 ORPHA:597 ORPHA:98905 OMIM:255320 OMIM:301075 OMIM:605355 OMIM:609285 OMIM:609284

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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