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:0003797	HP:0003797	Limb-girdle muscle atrophy	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type		263
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	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:0003797	HP:0003797	Limb-girdle muscle atrophy	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome		27
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18		27
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18		27
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003797	HP:0003797	Limb-girdle muscle atrophy	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:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent	304
HP:0003797	HP:0008946	Pelvic girdle amyotrophy	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040281 - Very frequent	108
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.	263
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	107
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	68
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0003797	HP:0008946	Pelvic girdle amyotrophy	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	.	31
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040281 - Very frequent	221
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0003797	HP:0008946	Pelvic girdle amyotrophy	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003797	HP:0008946	Pelvic girdle amyotrophy	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	1129
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	508
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	171
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent	27
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0003797	HP:0006785	Limb-girdle muscular dystrophy	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0003797	HP:0003724	Shoulder girdle muscle atrophy	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003797	HP:0008946	Pelvic girdle amyotrophy	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:0003797	HP:0003724	Shoulder girdle muscle atrophy	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