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:0001430	HP:0001430	Abnormality of the calf musculature	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy		304
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type		263
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3		132
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001430	HP:0001430	Abnormality of the calf musculature	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040283 - Occasional	304
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0001430	HP:0008962	Calf muscle hypoplasia	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	HP:0040283 - Occasional	11
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent	108
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional	108
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.	263
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	1496
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional	600
HP:0001430	HP:0008962	Calf muscle hypoplasia	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001430	HP:0009054	Scapuloperoneal myopathy	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent	157
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	92
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0001430	HP:0009054	Scapuloperoneal myopathy	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0001430	HP:0008962	Calf muscle hypoplasia	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.	33
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0001430	HP:0003707	Calf muscle pseudohypertrophy	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional	7128
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0001430	HP:0008981	Calf muscle hypertrophy	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0001430	HP:0009049	Peroneal muscle atrophy	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83