Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003701	HP:0003701	Proximal muscle weakness	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0003701	Proximal muscle weakness	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0003701	Proximal muscle weakness	0	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0003701	Proximal muscle weakness	0	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0003701	Proximal muscle weakness	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0003701	Proximal muscle weakness	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0003701	Proximal muscle weakness	0	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0003701	Proximal muscle weakness	0	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0003701	Proximal muscle weakness	0	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0003701	Proximal muscle weakness	0	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0003701	Proximal muscle weakness	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0003701	Proximal muscle weakness	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0003701	Proximal muscle weakness	0	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0003701	Proximal muscle weakness	0	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0003701	Proximal muscle weakness	0	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0003701	Proximal muscle weakness	0	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0003701	Proximal muscle weakness	0	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0003701	Proximal muscle weakness	0	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0003701	Proximal muscle weakness	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0003701	Proximal muscle weakness	0	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0003701	Proximal muscle weakness	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0003701	Proximal muscle weakness	0	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0003701	Proximal muscle weakness	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0003701	Proximal muscle weakness	0	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0003701	Proximal muscle weakness	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0003701	Proximal muscle weakness	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0003701	Proximal muscle weakness	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0003701	Proximal muscle weakness	0	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0003701	Proximal muscle weakness	0	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0003701	Proximal muscle weakness	0	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0003701	Proximal muscle weakness	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0003701	Proximal muscle weakness	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0003701	Proximal muscle weakness	0	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0003701	Proximal muscle weakness	0	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0003701	Proximal muscle weakness	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0003701	Proximal muscle weakness	0	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0003701	Proximal muscle weakness	0	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0003701	Proximal muscle weakness	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0003701	Proximal muscle weakness	0	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0003701	Proximal muscle weakness	0	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0003701	Proximal muscle weakness	0	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0003701	Proximal muscle weakness	0	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0003701	Proximal muscle weakness	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0003701	Proximal muscle weakness	0	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0003701	Proximal muscle weakness	0	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0003701	Proximal muscle weakness	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0003701	Proximal muscle weakness	0	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0003701	Proximal muscle weakness	0	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0003701	Proximal muscle weakness	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0003701	Proximal muscle weakness	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0003701	Proximal muscle weakness	0	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0003701	Proximal muscle weakness	0	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0003701	Proximal muscle weakness	0	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0003701	Proximal muscle weakness	0	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0003701	Proximal muscle weakness	0	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0003701	Proximal muscle weakness	0	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0003701	Proximal muscle weakness	0	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0003701	Proximal muscle weakness	0	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0003701	Proximal muscle weakness	0	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0003701	Proximal muscle weakness	0	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0003701	Proximal muscle weakness	0	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0003701	Proximal muscle weakness	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0003701	Proximal muscle weakness	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0003701	Proximal muscle weakness	0	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0003701	Proximal muscle weakness	0	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0003701	Proximal muscle weakness	0	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0003701	Proximal muscle weakness	0	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0003701	Proximal muscle weakness	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0003701	Proximal muscle weakness	0	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0003701	Proximal muscle weakness	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0003701	Proximal muscle weakness	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0003701	Proximal muscle weakness	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0003701	Proximal muscle weakness	0	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0003701	Proximal muscle weakness	0	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0003701	Proximal muscle weakness	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0003701	Proximal muscle weakness	0	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003701	Proximal muscle weakness	0	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003701	Proximal muscle weakness	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0003701	Proximal muscle weakness	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0003701	Proximal muscle weakness	0	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0003701	Proximal muscle weakness	0	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0003701	Proximal muscle weakness	0	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0003701	Proximal muscle weakness	0	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0003701	Proximal muscle weakness	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0003701	Proximal muscle weakness	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0003701	Proximal muscle weakness	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0003701	Proximal muscle weakness	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0003701	Proximal muscle weakness	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0003701	Proximal muscle weakness	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0003701	Proximal muscle weakness	0	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0003701	Proximal muscle weakness	0	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0003701	Proximal muscle weakness	0	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0003701	Proximal muscle weakness	0	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0003701	Proximal muscle weakness	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0003701	Proximal muscle weakness	0	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0003701	Proximal muscle weakness	0	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0003701	Proximal muscle weakness	0	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0003701	Proximal muscle weakness	0	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0003701	Proximal muscle weakness	0	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0003701	Proximal muscle weakness	0	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0003701	Proximal muscle weakness	0	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0003701	Proximal muscle weakness	0	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0003701	Proximal muscle weakness	0	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0003701	Proximal muscle weakness	0	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0003701	Proximal muscle weakness	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0003701	Proximal muscle weakness	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0003701	Proximal muscle weakness	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0003701	Proximal muscle weakness	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0003701	Proximal muscle weakness	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0003701	Proximal muscle weakness	0	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0003701	Proximal muscle weakness	0	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0003701	Proximal muscle weakness	0	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0003701	Proximal muscle weakness	0	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0003701	Proximal muscle weakness	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0003701	Proximal muscle weakness	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0003701	Proximal muscle weakness	0	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0003701	Proximal muscle weakness	0	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0003701	Proximal muscle weakness	0	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0003701	Proximal muscle weakness	0	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0003701	Proximal muscle weakness	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0003391	Gowers sign	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0003391	Gowers sign	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0003391	Gowers sign	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0003391	Gowers sign	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0003391	Gowers sign	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0003391	Gowers sign	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0003391	Gowers sign	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0003391	Gowers sign	1	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0003391	Gowers sign	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0003391	Gowers sign	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0003391	Gowers sign	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0003391	Gowers sign	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0003391	Gowers sign	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0003391	Gowers sign	1	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0003391	Gowers sign	1	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0003391	Gowers sign	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0003391	Gowers sign	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0003391	Gowers sign	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0003391	Gowers sign	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0003391	Gowers sign	1	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0003391	Gowers sign	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0003391	Gowers sign	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0003391	Gowers sign	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0003391	Gowers sign	1	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0003391	Gowers sign	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0003391	Gowers sign	1	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0003391	Gowers sign	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0003391	Gowers sign	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0003391	Gowers sign	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0003391	Gowers sign	1	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0003391	Gowers sign	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0003391	Gowers sign	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0003391	Gowers sign	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0003391	Gowers sign	1	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0003391	Gowers sign	1	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0003391	Gowers sign	1	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0003391	Gowers sign	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0003391	Gowers sign	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0003391	Gowers sign	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0003391	Gowers sign	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0003391	Gowers sign	1	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0003391	Gowers sign	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0003391	Gowers sign	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0003391	Gowers sign	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0003391	Gowers sign	1	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0003391	Gowers sign	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0003391	Gowers sign	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0003391	Gowers sign	1	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0003391	Gowers sign	1	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0003391	Gowers sign	1	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0003391	Gowers sign	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0003391	Gowers sign	1	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0003391	Gowers sign	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0003391	Gowers sign	1	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0003391	Gowers sign	1	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0003391	Gowers sign	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0003391	Gowers sign	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0003391	Gowers sign	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0003391	Gowers sign	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0003391	Gowers sign	1	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0003391	Gowers sign	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0003391	Gowers sign	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0003391	Gowers sign	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0003391	Gowers sign	1	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0003391	Gowers sign	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0003391	Gowers sign	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0003391	Gowers sign	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0003391	Gowers sign	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0003391	Gowers sign	1	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0003391	Gowers sign	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0003391	Gowers sign	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0003391	Gowers sign	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0003391	Gowers sign	1	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0003391	Gowers sign	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0003391	Gowers sign	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0003391	Gowers sign	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0003391	Gowers sign	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0003391	Gowers sign	1	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0003391	Gowers sign	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0003391	Gowers sign	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0003391	Gowers sign	1	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0003391	Gowers sign	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0003391	Gowers sign	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0003391	Gowers sign	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0003391	Gowers sign	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0003391	Gowers sign	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0003391	Gowers sign	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0003391	Gowers sign	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0003391	Gowers sign	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003391	Gowers sign	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003391	Gowers sign	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0003391	Gowers sign	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0003391	Gowers sign	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0003391	Gowers sign	1	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0003391	Gowers sign	1	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0003391	Gowers sign	1	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0003391	Gowers sign	1	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0003391	Gowers sign	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0003391	Gowers sign	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0003391	Gowers sign	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0003391	Gowers sign	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0003391	Gowers sign	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0003391	Gowers sign	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0003391	Gowers sign	1	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0003391	Gowers sign	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0003391	Gowers sign	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0003391	Gowers sign	1	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0003391	Gowers sign	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0003391	Gowers sign	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0003391	Gowers sign	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0003391	Gowers sign	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0003391	Gowers sign	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0003391	Gowers sign	1	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0003391	Gowers sign	1	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0003391	Gowers sign	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0003391	Gowers sign	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0003391	Gowers sign	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0003391	Gowers sign	1	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0003391	Gowers sign	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0003391	Gowers sign	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0003391	Gowers sign	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0003391	Gowers sign	1	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0003391	Gowers sign	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0003391	Gowers sign	1	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0003391	Gowers sign	1	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0003391	Gowers sign	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0003391	Gowers sign	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0003391	Gowers sign	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0003391	Gowers sign	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0003391	Gowers sign	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0003391	Gowers sign	1	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0003391	Gowers sign	1	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0003391	Gowers sign	1	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0003391	Gowers sign	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0031108	Triceps weakness	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0031108	Triceps weakness	2	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0031108	Triceps weakness	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003701	HP:0031108	Triceps weakness	2	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003701	HP:0031108	Triceps weakness	2	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0031108	Triceps weakness	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003701	HP:0031108	Triceps weakness	2	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0031108	Triceps weakness	2	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0003701	HP:0031108	Triceps weakness	2	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003701	HP:0031108	Triceps weakness	2	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003701	HP:0031108	Triceps weakness	2	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003701	HP:0031108	Triceps weakness	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0031108	Triceps weakness	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0031108	Triceps weakness	2	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0031108	Triceps weakness	2	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	24	13164	116955
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0031108	Triceps weakness	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0031108	Triceps weakness	2	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0031108	Triceps weakness	2	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0031108	Triceps weakness	2	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0031108	Triceps weakness	2	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0031108	Triceps weakness	2	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0031108	Triceps weakness	2	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0031108	Triceps weakness	2	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0031108	Triceps weakness	2	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	1241	2219	120270
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0031108	Triceps weakness	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0031108	Triceps weakness	2	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003701	HP:0031108	Triceps weakness	2	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003701	HP:0031108	Triceps weakness	2	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0003701	HP:0031108	Triceps weakness	2	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0031108	Triceps weakness	2	DMD CL E G H	1756	98896				ORPHA	1	8184	2928	300377
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0031108	Triceps weakness	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003701	HP:0031108	Triceps weakness	2	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0031108	Triceps weakness	2	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0031108	Triceps weakness	2	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	586	3702	300163
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0031108	Triceps weakness	2	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0031108	Triceps weakness	2	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	586	3702	300163
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0031108	Triceps weakness	2	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003701	HP:0031108	Triceps weakness	2	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0031108	Triceps weakness	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0031108	Triceps weakness	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003701	HP:0031108	Triceps weakness	2	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FKTN CL E G H	2218	611615	Dilated cardiomyopathy 1X	611615	C1969024	OMIM	1	914	3622	607440
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0031108	Triceps weakness	2	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003701	HP:0031108	Triceps weakness	2	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003701	HP:0031108	Triceps weakness	2	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0031108	Triceps weakness	2	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0031108	Triceps weakness	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0003701	HP:0031108	Triceps weakness	2	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0031108	Triceps weakness	2	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0031108	Triceps weakness	2	GDAP1 CL E G H	54332	99944				ORPHA	1	537	15968	606598
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0031108	Triceps weakness	2	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003701	HP:0031108	Triceps weakness	2	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003701	HP:0031108	Triceps weakness	2	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003701	HP:0031108	Triceps weakness	2	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003701	HP:0031108	Triceps weakness	2	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0031108	Triceps weakness	2	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0031108	Triceps weakness	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0031108	Triceps weakness	2	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003701	HP:0031108	Triceps weakness	2	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0031108	Triceps weakness	2	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	1814	6636	150330
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0031108	Triceps weakness	2	LTBP4 CL E G H	8425	98896				ORPHA	1	773	6717	604710
HP:0003701	HP:0031108	Triceps weakness	2	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003701	HP:0031108	Triceps weakness	2	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0031108	Triceps weakness	2	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0031108	Triceps weakness	2	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0003701	HP:0031108	Triceps weakness	2	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0003701	HP:0031108	Triceps weakness	2	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0031108	Triceps weakness	2	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0031108	Triceps weakness	2	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	251	7413	156540
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0031108	Triceps weakness	2	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	540	7450	603557
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0031108	Triceps weakness	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0031108	Triceps weakness	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0031108	Triceps weakness	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003701	HP:0031108	Triceps weakness	2	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003701	HP:0031108	Triceps weakness	2	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	372	12399	604103
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0031108	Triceps weakness	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003701	HP:0031108	Triceps weakness	2	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0031108	Triceps weakness	2	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0031108	Triceps weakness	2	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	607	8091	613349
HP:0003701	HP:0031108	Triceps weakness	2	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	326	25896	610277
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0031108	Triceps weakness	2	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	85	8565	602279
HP:0003701	HP:0031108	Triceps weakness	2	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003701	HP:0031108	Triceps weakness	2	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003701	HP:0031108	Triceps weakness	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0031108	Triceps weakness	2	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0031108	Triceps weakness	2	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003701	HP:0031108	Triceps weakness	2	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003701	HP:0031108	Triceps weakness	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003701	HP:0031108	Triceps weakness	2	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0003701	HP:0031108	Triceps weakness	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0031108	Triceps weakness	2	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003701	HP:0031108	Triceps weakness	2	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0031108	Triceps weakness	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0031108	Triceps weakness	2	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003701	HP:0031108	Triceps weakness	2	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003701	HP:0031108	Triceps weakness	2	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003701	HP:0031108	Triceps weakness	2	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003701	HP:0031108	Triceps weakness	2	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0031108	Triceps weakness	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0031108	Triceps weakness	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0031108	Triceps weakness	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0031108	Triceps weakness	2	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0031108	Triceps weakness	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003701	HP:0031108	Triceps weakness	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0031108	Triceps weakness	2	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	217	11117	600354
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0031108	Triceps weakness	2	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	217	11117	600354
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0031108	Triceps weakness	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0031108	Triceps weakness	2	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0031108	Triceps weakness	2	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0031108	Triceps weakness	2	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003701	HP:0031108	Triceps weakness	2	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003701	HP:0031108	Triceps weakness	2	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0031108	Triceps weakness	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0031108	Triceps weakness	2	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0031108	Triceps weakness	2	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0031108	Triceps weakness	2	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	373	11758	602498
HP:0003701	HP:0031108	Triceps weakness	2	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0003701	HP:0031108	Triceps weakness	2	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0031108	Triceps weakness	2	TNXB CL E G H	7148	230839				ORPHA	1	2159	11976	600985
HP:0003701	HP:0031108	Triceps weakness	2	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0031108	Triceps weakness	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0031108	Triceps weakness	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003701	HP:0031108	Triceps weakness	2	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0031108	Triceps weakness	2	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003701	HP:0031108	Triceps weakness	2	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TRDN CL E G H	10345	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441	C3809536	OMIM	1	1165	12261	603283
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0031108	Triceps weakness	2	TTN CL E G H	7273	603689	Hereditary myopathy with early respiratory failure	603689	C1863599	OMIM	1	27503	12403	188840
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0031108	Triceps weakness	2	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003701	HP:0031108	Triceps weakness	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0003701	HP:0031108	Triceps weakness	2	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0031108	Triceps weakness	2	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0031108	Triceps weakness	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0031108	Triceps weakness	2	VAPB CL E G H	9217	182980	Adult proximal spinal muscular atrophy, autosomal dominant	182980	C1866777	OMIM	1	359	12649	605704
HP:0003701	HP:0031108	Triceps weakness	2	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003701	HP:0031108	Triceps weakness	2	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003701	HP:0031108	Triceps weakness	2	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003701	HP:0003701	Proximal muscle weakness	0	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0003701	Proximal muscle weakness	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0003701	Proximal muscle weakness	0	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0003701	Proximal muscle weakness	0	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0003701	Proximal muscle weakness	0	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0003701	Proximal muscle weakness	0	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0003701	Proximal muscle weakness	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0003701	Proximal muscle weakness	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0003701	Proximal muscle weakness	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0003701	Proximal muscle weakness	0	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0003701	Proximal muscle weakness	0	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0003701	Proximal muscle weakness	0	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0003701	Proximal muscle weakness	0	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0003701	Proximal muscle weakness	0	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0003701	Proximal muscle weakness	0	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0003701	Proximal muscle weakness	0	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0003701	Proximal muscle weakness	0	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0003391	Gowers sign	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0003391	Gowers sign	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0003391	Gowers sign	1	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0003391	Gowers sign	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0003391	Gowers sign	1	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0003391	Gowers sign	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0003391	Gowers sign	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0003391	Gowers sign	1	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0003391	Gowers sign	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0003391	Gowers sign	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0003391	Gowers sign	1	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0003391	Gowers sign	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0003391	Gowers sign	1	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0003391	Gowers sign	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0003391	Gowers sign	1	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0003391	Gowers sign	1	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0003391	Gowers sign	1	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0008994	Proximal muscle weakness in lower limbs	1	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0003694	Late-onset proximal muscle weakness	1	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0003391	Gowers sign	1	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0008997	Proximal muscle weakness in upper limbs	1	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0009073	Progressive proximal muscle weakness	1	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0031108	Triceps weakness	2	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0003701	HP:0031108	Triceps weakness	2	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0003701	HP:0031108	Triceps weakness	2	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	580	28844	608533
HP:0003701	HP:0031108	Triceps weakness	2	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0003701	HP:0031108	Triceps weakness	2	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	0	1138	5542	600502
HP:0003701	HP:0031108	Triceps weakness	2	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003701	HP:0031108	Triceps weakness	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0031108	Triceps weakness	2	MYH14 CL E G H	79784	397744				ORPHA	0	1062	23212	608568
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0031108	Triceps weakness	2	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	0	4106	7577	160760
HP:0003701	HP:0031108	Triceps weakness	2	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	714	7737	162230
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0031108	Triceps weakness	2	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0031108	Triceps weakness	2	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003701	HP:0031108	Triceps weakness	2	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	0	232	11510	600104
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0031108	Triceps weakness	2	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0031108	Triceps weakness	2	TNXB CL E G H	7148	606408	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	606408	C1848029	OMIM	0	2159	11976	600985
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0031108	Triceps weakness	2	TTN CL E G H	7273	178464				ORPHA	0	27503	12403	188840
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0031108	Triceps weakness	2	VAPB CL E G H	9217	608627	Amyotrophic lateral sclerosis type 8	608627	C1837728	OMIM	0	359	12649	605704
HP:0003701	HP:0003731	Quadriceps muscle weakness	2	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0003701	HP:0031108	Triceps weakness	2	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023