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:0003325	HP:0003325	Limb-girdle muscle weakness	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.	46
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy		46
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040281 - Very frequent
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent	57
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040281 - Very frequent	41
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional	600
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2	.	18
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare	286
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0003325	HP:0003325	Limb-girdle 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:0003325	HP:0003325	Limb-girdle muscle weakness	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0003325	HP:0003325	Limb-girdle muscle weakness	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003325	HP:0003325	Limb-girdle muscle weakness	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003325	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:0003325	HP:0003547	Shoulder girdle muscle weakness	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003325	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:0003325	HP:0003547	Shoulder girdle muscle weakness	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003325	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003325	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional	57
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0003325	HP:0003749	Pelvic 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:0003325	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:0003325	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003325	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:0003325	HP:0003547	Shoulder girdle muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003325	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0003325	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003325	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:0003325	HP:0003547	Shoulder girdle muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0003325	HP:0003749	Pelvic 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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0003325	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:0003325	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:0003325	HP:0003547	Shoulder girdle muscle weakness	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003325	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:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0003325	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:0003325	HP:0003547	Shoulder girdle muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003325	HP:0003547	Shoulder girdle muscle weakness	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0003325	HP:0003749	Pelvic girdle muscle weakness	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0003325	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:0003325	HP:0003749	Pelvic girdle muscle weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003325	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:0003325	HP:0003749	Pelvic 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:0003325	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:0003325	HP:0033416	Hip adductor weakness	2	CL E G H
HP:0003325	HP:0012515	Hip flexor weakness	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0003325	HP:0012515	Hip flexor weakness	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0003325	HP:0012515	Hip flexor weakness	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0003325	HP:0012515	Hip flexor weakness	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0003325	HP:0012515	Hip flexor weakness	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0003325	HP:0012515	Hip flexor weakness	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0003325	HP:0012515	Hip flexor weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0003325	HP:0012515	Hip flexor weakness	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0003325	HP:0012515	Hip flexor weakness	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent	197
HP:0003325	HP:0012515	Hip flexor weakness	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003325	HP:0012515	Hip flexor weakness	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0003325	HP:0012515	Hip flexor weakness	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0003325	HP:0012515	Hip flexor weakness	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0003325	HP:0012515	Hip flexor weakness	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0003325	HP:0012515	Hip flexor weakness	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263