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:
Abnormality of skeletal muscle fiber size (HP:0012084)

..Starting node
..Increased variability in muscle fiber diameter (HP:0003557)

Term ID:

3557

Name:

Increased variability in muscle fiber diameter

Synonym:

Increased fiber size variation; Increased fibre size variation; Increased variability in muscle fiber size; Increased variability in muscle fibre diameter; Increased variability in muscle fibre size; Increased variation in fiber size; Increased variation in fibre size; Increased variation in muscle fiber size; Increased variation in muscle fibre size; Variation in muscle fiber size; Variation in muscle fibre size

Definition:

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.

Comments:

Reference:

HP:0003557

Genes and Diseases:

Child Nodes:

Sister Nodes:

Type 1 fibers relatively smaller than type 2 fibers (HP:0003755)

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:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	5
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	HP:0040283 - Occasional	1
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent	103
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	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:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	19
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	31
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003557	HP:0003557	Increased variability in muscle fiber diameter	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63

Genes (93) :AARS2 ACTA1 ACTN2 AIFM1 ALDOA ANO5 ANXA11 ASCC1 BVES CAPN3 CASQ1 CAV3 CAVIN1 CCDC174 CFL2 CHRNB1 CLCN6 COL12A1 COL6A1 COL6A2 COL6A3 CRYAB DMD DNAJB6 DPM3 DYSF FHL1 FKTN GARS1 GIPC1 GNE HNRNPA1 HNRNPA2B1 HPDL ISCU ITGA7 JAG2 KBTBD13 KLHL41 KY LAMA2 LMOD3 LRP12 LYRM4 MATR3 MEGF10 MICU1 MLIP MSTO1 MYH14 MYH2 MYH7 MYL1 MYOT MYPN NDUFA4 NEB NEFH NEK9 NOTCH2NLC OPA1 ORAI1 PLEC POLG POMGNT1 POMT1 POMT2 POPDC3 RILPL1 RYR1 SCO2 SELENON SGCA SGCB SGCG SLC25A12 SMN1 SMPX SQSTM1 STIM1 SUCLG1 SYNE1 SYT2 TCAP TOR1AIP1 TPM2 TPM3 TRIM32 TRIP4 TTN TWNK UNC45B VCP

Diseases (106) :OMIM:614096 ORPHA:171439 OMIM:616852 ORPHA:171436 OMIM:618654 OMIM:618655 ORPHA:238329 OMIM:611881 ORPHA:206549 OMIM:619733 OMIM:616867 OMIM:616812 OMIM:618129 ORPHA:2593 ORPHA:488650 OMIM:614321 OMIM:613327 OMIM:616816 OMIM:616313 OMIM:619173 OMIM:616471 ORPHA:75840 ORPHA:536516 OMIM:616470 OMIM:254090 ORPHA:399058 OMIM:302045 ORPHA:34516 OMIM:618992 OMIM:612937 OMIM:253601 OMIM:300718 OMIM:300717 OMIM:300696 OMIM:611615 OMIM:619042 OMIM:618940 ORPHA:602 OMIM:615424 ORPHA:52430 OMIM:619026 OMIM:255125 OMIM:613204 OMIM:619566 OMIM:617114 OMIM:618138 OMIM:164310 OMIM:615595 OMIM:606070 OMIM:614399 ORPHA:401768 OMIM:620138 ORPHA:502423 OMIM:617675 ORPHA:397744 OMIM:605637 ORPHA:437572 OMIM:618414 ORPHA:266 ORPHA:171881 OMIM:619065 OMIM:619334 OMIM:256030 OMIM:616924 OMIM:617022 OMIM:619473 OMIM:125250 OMIM:226670 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:613157 ORPHA:86812 OMIM:613150 OMIM:618848 OMIM:619790 OMIM:117000 ORPHA:98905 OMIM:255320 OMIM:604377 OMIM:602771 OMIM:608099 ORPHA:119 ORPHA:353 OMIM:253700 OMIM:612949 OMIM:271150 OMIM:301075 OMIM:617158 OMIM:160565 ORPHA:17 OMIM:618484 OMIM:619461 OMIM:601954 OMIM:617072 OMIM:254110 ORPHA:1878 ORPHA:486815 OMIM:616866 ORPHA:178464 OMIM:608807 OMIM:603689 ORPHA:609 OMIM:619178 OMIM:613954

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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