Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000467	HP:0000467	Neck muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0000467	HP:0000467	Neck muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000467	HP:0000467	Neck muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0000467	HP:0000467	Neck muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent	96
HP:0000467	HP:0000467	Neck muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0000467	HP:0000467	Neck muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0000467	HP:0000467	Neck muscle weakness	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0000467	HP:0000467	Neck muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0000467	HP:0000467	Neck muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0000467	HP:0000467	Neck muscle weakness	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0000467	HP:0000467	Neck muscle weakness	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0000467	HP:0000467	Neck muscle weakness	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040284 - Very rare	148
HP:0000467	HP:0000467	Neck muscle weakness	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	HP:0040283 - Occasional	148
HP:0000467	HP:0000467	Neck muscle weakness	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.	35
HP:0000467	HP:0000467	Neck muscle weakness	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0000467	HP:0000467	Neck muscle weakness	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0000467	HP:0000467	Neck muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0000467	HP:0000467	Neck muscle weakness	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0000467	HP:0000467	Neck muscle weakness	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0000467	HP:0000467	Neck muscle weakness	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0000467	HP:0000467	Neck muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0000467	HP:0000467	Neck muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0000467	HP:0000467	Neck muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0000467	HP:0000467	Neck muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0000467	HP:0000467	Neck muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0000467	HP:0000467	Neck muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0000467	HP:0000467	Neck muscle weakness	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0000467	HP:0000467	Neck muscle weakness	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0000467	HP:0000467	Neck muscle weakness	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0000467	HP:0000467	Neck muscle weakness	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0000467	HP:0000467	Neck muscle weakness	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0000467	HP:0000467	Neck muscle weakness	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0000467	HP:0000467	Neck muscle weakness	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0000467	HP:0000467	Neck muscle weakness	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0000467	HP:0000467	Neck muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0000467	HP:0000467	Neck muscle weakness	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0000467	HP:0000467	Neck muscle weakness	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0000467	HP:0000467	Neck muscle weakness	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	160
HP:0000467	HP:0000467	Neck muscle weakness	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0000467	HP:0000467	Neck muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0000467	HP:0000467	Neck muscle weakness	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0000467	HP:0000467	Neck muscle weakness	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0000467	HP:0000467	Neck muscle weakness	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0000467	HP:0000467	Neck muscle weakness	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0000467	HP:0000467	Neck muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0000467	HP:0000467	Neck muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0000467	HP:0000467	Neck muscle weakness	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0000467	HP:0000467	Neck muscle weakness	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0000467	HP:0000467	Neck muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0000467	HP:0000467	Neck muscle weakness	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0000467	HP:0000467	Neck muscle weakness	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0000467	HP:0000467	Neck muscle weakness	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000467	HP:0000467	Neck muscle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0000467	HP:0000467	Neck muscle weakness	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0000467	HP:0000467	Neck muscle weakness	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0000467	HP:0000467	Neck muscle weakness	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0000467	HP:0000467	Neck muscle weakness	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0000467	HP:0000467	Neck muscle weakness	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0000467	HP:0000467	Neck muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0000467	HP:0000467	Neck muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0000467	HP:0000467	Neck muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0000467	HP:0000467	Neck muscle weakness	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0000467	HP:0000467	Neck muscle weakness	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0000467	HP:0000467	Neck muscle weakness	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0000467	HP:0000467	Neck muscle weakness	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0000467	HP:0000467	Neck muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0000467	HP:0000467	Neck muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0000467	HP:0000467	Neck muscle weakness	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000467	HP:0000467	Neck muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0000467	HP:0000467	Neck muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000467	HP:0000467	Neck muscle weakness	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0000467	HP:0000467	Neck muscle weakness	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0000467	HP:0000467	Neck muscle weakness	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional	65
HP:0000467	HP:0000467	Neck muscle weakness	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0000467	HP:0000467	Neck muscle weakness	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0000467	HP:0000467	Neck muscle weakness	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0000467	HP:0000467	Neck muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	81
HP:0000467	HP:0000467	Neck muscle weakness	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0000467	HP:0000467	Neck muscle weakness	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0000467	HP:0000467	Neck muscle weakness	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0000467	HP:0000467	Neck muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0000467	HP:0000467	Neck muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0000467	HP:0000467	Neck muscle weakness	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0000467	HP:0000467	Neck muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent	144
HP:0000467	HP:0000467	Neck muscle weakness	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0000467	HP:0000467	Neck muscle weakness	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent	207
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0000467	HP:0000467	Neck muscle weakness	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0000467	HP:0000467	Neck muscle weakness	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0000467	HP:0000467	Neck muscle weakness	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0000467	HP:0000467	Neck muscle weakness	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0000467	HP:0000467	Neck muscle weakness	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.	1129
HP:0000467	HP:0000467	Neck muscle weakness	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0000467	HP:0000467	Neck muscle weakness	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0000467	HP:0000467	Neck muscle weakness	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional	58
HP:0000467	HP:0000467	Neck muscle weakness	0	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.	171
HP:0000467	HP:0000467	Neck muscle weakness	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000467	HP:0000467	Neck muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0000467	HP:0000467	Neck muscle weakness	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0000467	HP:0000467	Neck muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0000467	HP:0000467	Neck muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0000467	HP:0000467	Neck muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0000467	HP:0000467	Neck muscle weakness	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0000467	HP:0000467	Neck muscle weakness	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0000467	HP:0000467	Neck muscle weakness	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0000467	HP:0000467	Neck muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0000467	HP:0000467	Neck muscle weakness	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0000467	HP:0000467	Neck muscle weakness	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0000467	HP:0003722	Neck flexor weakness	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000467	HP:0003722	Neck flexor weakness	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0000467	HP:0003722	Neck flexor weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0000467	HP:0003722	Neck flexor weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0000467	HP:0003722	Neck flexor weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0000467	HP:0003722	Neck flexor weakness	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0000467	HP:0003722	Neck flexor weakness	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0000467	HP:0003722	Neck flexor weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0000467	HP:0003722	Neck flexor weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0000467	HP:0003722	Neck flexor weakness	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0000467	HP:0003722	Neck flexor weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0000467	HP:0003722	Neck flexor weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0000467	HP:0003722	Neck flexor weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0000467	HP:0003722	Neck flexor weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0000467	HP:0003722	Neck flexor weakness	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0000467	HP:0003722	Neck flexor weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0000467	HP:0003722	Neck flexor weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0000467	HP:0003722	Neck flexor weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0000467	HP:0003722	Neck flexor weakness	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0000467	HP:0003722	Neck flexor weakness	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0000467	HP:0003722	Neck flexor weakness	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0000467	HP:0003722	Neck flexor weakness	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0000467	HP:0003722	Neck flexor weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0000467	HP:0003722	Neck flexor weakness	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0000467	HP:0003722	Neck flexor weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0000467	HP:0003722	Neck flexor weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0000467	HP:0003722	Neck flexor weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0000467	HP:0003722	Neck flexor weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0000467	HP:0003722	Neck flexor weakness	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0000467	HP:0003722	Neck flexor weakness	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0000467	HP:0003722	Neck flexor weakness	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0000467	HP:0003722	Neck flexor weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0000467	HP:0003722	Neck flexor weakness	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0000467	HP:0003722	Neck flexor weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0000467	HP:0003722	Neck flexor weakness	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	3
HP:0000467	HP:0003722	Neck flexor weakness	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	125
HP:0000467	HP:0003722	Neck flexor weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0000467	HP:0003722	Neck flexor weakness	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0000467	HP:0003722	Neck flexor weakness	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional	83
HP:0000467	HP:0003722	Neck flexor weakness	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0000467	HP:0003722	Neck flexor weakness	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0000467	HP:0003722	Neck flexor weakness	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0000467	HP:0003722	Neck flexor weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0000467	HP:0003722	Neck flexor weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0000467	HP:0003722	Neck flexor weakness	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0000467	HP:0003722	Neck flexor weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128