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:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy		304
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type		263
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome		24
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3		132
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome		27
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0001437	HP:0001437	Abnormality of the musculature of the lower limbs	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0001437	HP:0410260	Asymmetrical gluteal crease	1	CL E G H
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0001437	HP:0008969	Leg muscle stiffness	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001437	HP:0008969	Leg muscle stiffness	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy		304
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0001437	HP:0008969	Leg muscle stiffness	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0001437	HP:0008969	Leg muscle stiffness	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0001437	HP:0008969	Leg muscle stiffness	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040283 - Occasional
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent	105
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0001437	HP:0008969	Leg muscle stiffness	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type		263
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001437	HP:0008969	Leg muscle stiffness	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0001437	HP:0008969	Leg muscle stiffness	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0001437	HP:0008969	Leg muscle stiffness	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001437	HP:0008969	Leg muscle stiffness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional	286
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0001437	HP:0008969	Leg muscle stiffness	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0001437	HP:0008969	Leg muscle stiffness	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0001437	HP:0001436	Abnormality of the foot musculature	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3		132
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001437	HP:0008969	Leg muscle stiffness	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001437	HP:0008969	Leg muscle stiffness	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	9
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001437	HP:0001441	Abnormality of the musculature of the thigh	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001437	HP:0008968	Muscle hypertrophy of the lower extremities	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001437	HP:0008969	Leg muscle stiffness	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0001437	HP:0008969	Leg muscle stiffness	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001437	HP:0001430	Abnormality of the calf musculature	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0001437	HP:0008969	Leg muscle stiffness	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040283 - Occasional	304
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0001437	HP:0008962	Calf muscle hypoplasia	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	HP:0040283 - Occasional	11
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent	108
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional	108
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.	263
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	1496
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional	600
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0001437	HP:0008962	Calf muscle hypoplasia	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001437	HP:0009054	Scapuloperoneal myopathy	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent	157
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001437	HP:0003733	Thigh hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0001437	HP:0003733	Thigh hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0001437	HP:0008116	Flexion limitation of toes	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0001437	HP:0009031	Amyotrophy of ankle musculature	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0011916	Toe extensor amyotrophy	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0001437	HP:0009786	Aplasia/Hypoplasia of the musculature of the thigh	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	92
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0001437	HP:0011916	Toe extensor amyotrophy	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040281 - Very frequent	1269
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0001437	HP:0009031	Amyotrophy of ankle musculature	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0001437	HP:0011916	Toe extensor amyotrophy	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0001437	HP:0009054	Scapuloperoneal myopathy	2	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0001437	HP:0008962	Calf muscle hypoplasia	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.	33
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0001437	HP:0003733	Thigh hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent	87
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0001437	HP:0008956	Proximal lower limb amyotrophy	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0001437	HP:0003707	Calf muscle pseudohypertrophy	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional	7128
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0001437	HP:0008981	Calf muscle hypertrophy	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0001437	HP:0009049	Peroneal muscle atrophy	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0001437	HP:0009050	Quadriceps muscle atrophy	3	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001437	HP:0009050	Quadriceps muscle atrophy	3	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0001437	HP:0009050	Quadriceps muscle atrophy	3	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0001437	HP:0009787	Aplasia/Hypoplasia of the quadriceps	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001437	HP:0009050	Quadriceps muscle atrophy	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001437	HP:0009050	Quadriceps muscle atrophy	3	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001437	HP:0009788	Quadriceps aplasia	4	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001437	HP:0040191	Rectus femoris muscle atrophy	4	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200