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:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy		46
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z		6
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3		132
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0001435	HP:0001435	Abnormality of the shoulder girdle musculature	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0001435	HP:0003691	Scapular winging	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001435	HP:0003691	Scapular winging	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0001435	HP:0003691	Scapular winging	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0001435	HP:0003691	Scapular winging	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0001435	HP:0003691	Scapular winging	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0001435	HP:0003691	Scapular winging	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0001435	HP:0003691	Scapular winging	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001435	HP:0003691	Scapular winging	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0001435	HP:0003691	Scapular winging	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040284 - Very rare	46
HP:0001435	HP:0003691	Scapular winging	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional	46
HP:0001435	HP:0003691	Scapular winging	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001435	HP:0003691	Scapular winging	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional	99
HP:0001435	HP:0003691	Scapular winging	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0001435	HP:0003691	Scapular winging	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001435	HP:0001465	Amyotrophy involving the shoulder musculature	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001435	HP:0003691	Scapular winging	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0001435	HP:0003691	Scapular winging	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0001435	HP:0003691	Scapular winging	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0001435	HP:0003691	Scapular winging	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0001435	HP:0003691	Scapular winging	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0001435	HP:0003691	Scapular winging	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0001435	HP:0003691	Scapular winging	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0001435	HP:0003691	Scapular winging	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0001435	HP:0003691	Scapular winging	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0001435	HP:0003691	Scapular winging	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0001435	HP:0003691	Scapular winging	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040283 - Occasional
HP:0001435	HP:0003691	Scapular winging	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0001435	HP:0003691	Scapular winging	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001435	HP:0003691	Scapular winging	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0001435	HP:0003691	Scapular winging	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0001435	HP:0003691	Scapular winging	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0001435	HP:0003691	Scapular winging	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0001435	HP:0003691	Scapular winging	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0001435	HP:0003691	Scapular winging	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0001435	HP:0003691	Scapular winging	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0001435	HP:0003691	Scapular winging	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001435	HP:0003691	Scapular winging	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0001435	HP:0003691	Scapular winging	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0001435	HP:0003691	Scapular winging	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001435	HP:0003691	Scapular winging	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0001435	HP:0003691	Scapular winging	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0001435	HP:0001465	Amyotrophy involving the shoulder musculature	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001435	HP:0003691	Scapular winging	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent	157
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0001435	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0001435	HP:0003691	Scapular winging	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0001435	HP:0003691	Scapular winging	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0001435	HP:0003691	Scapular winging	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001435	HP:0003691	Scapular winging	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0001435	HP:0003691	Scapular winging	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0001435	HP:0003691	Scapular winging	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0001435	HP:0003691	Scapular winging	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0001435	HP:0003547	Shoulder girdle muscle 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:0001435	HP:0003691	Scapular winging	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0001435	HP:0003691	Scapular winging	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0001435	HP:0003691	Scapular winging	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0001435	HP:0003691	Scapular winging	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0001435	HP:0003691	Scapular winging	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0001435	HP:0003691	Scapular winging	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0001435	HP:0003691	Scapular winging	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001435	HP:0003691	Scapular winging	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001435	HP:0003691	Scapular winging	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0001435	HP:0003691	Scapular winging	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001435	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040283 - Occasional	80
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0001435	HP:0003691	Scapular winging	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0001435	HP:0003691	Scapular winging	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	HP:0040283 - Occasional	105
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0001435	HP:0003691	Scapular winging	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0001435	HP:0003691	Scapular winging	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0001435	HP:0001465	Amyotrophy involving the shoulder musculature	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040281 - Very frequent	75
HP:0001435	HP:0003691	Scapular winging	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0001435	HP:0003691	Scapular winging	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional	217
HP:0001435	HP:0003691	Scapular winging	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0001435	HP:0003691	Scapular winging	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0001435	HP:0003691	Scapular winging	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0001435	HP:0003691	Scapular winging	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0001435	HP:0003691	Scapular winging	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0001435	HP:0003691	Scapular winging	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0001435	HP:0003691	Scapular winging	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0001435	HP:0003691	Scapular winging	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent	65
HP:0001435	HP:0003691	Scapular winging	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.	6
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0001435	HP:0003691	Scapular winging	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0001435	HP:0003691	Scapular winging	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0001435	HP:0003691	Scapular winging	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0001435	HP:0003691	Scapular winging	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0001435	HP:0003691	Scapular winging	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0001435	HP:0003691	Scapular winging	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0001435	HP:0003691	Scapular winging	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001435	HP:0003691	Scapular winging	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0001435	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0001435	HP:0003691	Scapular winging	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0001435	HP:0003691	Scapular winging	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001435	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0001435	HP:0003691	Scapular winging	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040282 - Frequent
HP:0001435	HP:0003691	Scapular winging	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0001435	HP:0003691	Scapular winging	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0001435	HP:0003691	Scapular winging	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0001435	HP:0003691	Scapular winging	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0001435	HP:0003691	Scapular winging	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0001435	HP:0003691	Scapular winging	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0001435	HP:0003691	Scapular winging	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001435	HP:0003691	Scapular winging	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0001435	HP:0003691	Scapular winging	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0001435	HP:0003691	Scapular winging	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001435	HP:0003691	Scapular winging	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0001435	HP:0003691	Scapular winging	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0001435	HP:0003691	Scapular winging	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0001435	HP:0005258	Pectoral muscle hypoplasia/aplasia	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001435	HP:0003691	Scapular winging	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001435	HP:0003691	Scapular winging	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare	103
HP:0001435	HP:0003691	Scapular winging	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0001435	HP:0003691	Scapular winging	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0001435	HP:0003691	Scapular winging	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0001435	HP:0003691	Scapular winging	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0001435	HP:0003691	Scapular winging	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0001435	HP:0003691	Scapular winging	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0001435	HP:0003691	Scapular winging	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0001435	HP:0003691	Scapular winging	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0001435	HP:0001465	Amyotrophy involving the shoulder musculature	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001435	HP:0003691	Scapular winging	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001435	HP:0003691	Scapular winging	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0001435	HP:0003691	Scapular winging	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure	.	7128
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0001435	HP:0003691	Scapular winging	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001435	HP:0003691	Scapular winging	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0001435	HP:0003691	Scapular winging	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0001435	HP:0003547	Shoulder girdle muscle weakness	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0001435	HP:0003691	Scapular winging	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0001435	HP:0003691	Scapular winging	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001435	HP:0500023	Shoulder muscle aplasia	2	CL E G H
HP:0001435	HP:0009060	Scapular muscle atrophy	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0001435	HP:0009054	Scapuloperoneal myopathy	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0001435	HP:0008952	Shoulder muscle hypoplasia	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0001435	HP:0008952	Shoulder muscle hypoplasia	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0001435	HP:0009054	Scapuloperoneal myopathy	2	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0001435	HP:0009751	Aplasia of the pectoralis major muscle	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0001435	HP:0008998	Pectoralis hypoplasia	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0001435	HP:0009751	Aplasia of the pectoralis major muscle	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0001435	HP:0009751	Aplasia of the pectoralis major muscle	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0001435	HP:0008952	Shoulder muscle hypoplasia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001435	HP:0009751	Aplasia of the pectoralis major muscle	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0001435	HP:0008998	Pectoralis hypoplasia	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001435	HP:0008952	Shoulder muscle hypoplasia	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001435	HP:0009751	Aplasia of the pectoralis major muscle	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0001435	HP:0009751	Aplasia of the pectoralis major muscle	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001435	HP:0009060	Scapular muscle atrophy	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001435	HP:0030241	Hypoplasia of deltoid muscle	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86