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:0003700	HP:0003700	Generalized amyotrophy	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0003700	HP:0003700	Generalized amyotrophy	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0003700	HP:0003700	Generalized amyotrophy	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0003700	HP:0003700	Generalized amyotrophy	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003700	HP:0003700	Generalized amyotrophy	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	99
HP:0003700	HP:0003700	Generalized amyotrophy	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0003700	HP:0003700	Generalized amyotrophy	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003700	HP:0003700	Generalized amyotrophy	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0003700	HP:0003700	Generalized amyotrophy	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003700	HP:0003700	Generalized amyotrophy	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0003700	HP:0003700	Generalized amyotrophy	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	65
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	442
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	478
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	702
HP:0003700	HP:0003700	Generalized amyotrophy	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0003700	HP:0003700	Generalized amyotrophy	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0003700	HP:0003700	Generalized amyotrophy	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0003700	HP:0003700	Generalized amyotrophy	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003700	HP:0003700	Generalized amyotrophy	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0003700	HP:0003700	Generalized amyotrophy	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	91
HP:0003700	HP:0003700	Generalized amyotrophy	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003700	HP:0003700	Generalized amyotrophy	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0003700	HP:0003700	Generalized amyotrophy	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0003700	HP:0003700	Generalized amyotrophy	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0003700	HP:0003700	Generalized amyotrophy	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0003700	HP:0003700	Generalized amyotrophy	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0003700	HP:0003700	Generalized amyotrophy	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0003700	HP:0003700	Generalized amyotrophy	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0003700	HP:0003700	Generalized amyotrophy	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0003700	HP:0003700	Generalized amyotrophy	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0003700	HP:0003700	Generalized amyotrophy	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003700	HP:0003700	Generalized amyotrophy	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0003700	HP:0003700	Generalized amyotrophy	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0003700	HP:0003700	Generalized amyotrophy	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0003700	HP:0003700	Generalized amyotrophy	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0003700	HP:0003700	Generalized amyotrophy	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0003700	HP:0003700	Generalized amyotrophy	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0003700	HP:0003700	Generalized amyotrophy	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	72
HP:0003700	HP:0003700	Generalized amyotrophy	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0003700	HP:0003700	Generalized amyotrophy	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003700	HP:0003700	Generalized amyotrophy	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0003700	HP:0003700	Generalized amyotrophy	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0003700	HP:0003700	Generalized amyotrophy	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0003700	HP:0003700	Generalized amyotrophy	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent	47
HP:0003700	HP:0003700	Generalized amyotrophy	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0003700	HP:0003700	Generalized amyotrophy	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0003700	HP:0003700	Generalized amyotrophy	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0003700	HP:0003700	Generalized amyotrophy	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003700	HP:0003700	Generalized amyotrophy	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0003700	HP:0003700	Generalized amyotrophy	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0003700	HP:0003700	Generalized amyotrophy	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0003700	HP:0003700	Generalized amyotrophy	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0003700	HP:0003700	Generalized amyotrophy	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0003700	HP:0003700	Generalized amyotrophy	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39		103
HP:0003700	HP:0003700	Generalized amyotrophy	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003700	HP:0003700	Generalized amyotrophy	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003700	HP:0003700	Generalized amyotrophy	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0003700	HP:0003700	Generalized amyotrophy	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0003700	HP:0003700	Generalized amyotrophy	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia		57
HP:0003700	HP:0003700	Generalized amyotrophy	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1		57
HP:0003700	HP:0003700	Generalized amyotrophy	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003700	HP:0003700	Generalized amyotrophy	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	73
HP:0003700	HP:0003700	Generalized amyotrophy	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0003700	HP:0003700	Generalized amyotrophy	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0003700	HP:0003700	Generalized amyotrophy	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0003700	HP:0003700	Generalized amyotrophy	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0003700	HP:0003700	Generalized amyotrophy	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0003700	HP:0003700	Generalized amyotrophy	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0003700	HP:0003700	Generalized amyotrophy	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0003700	HP:0003700	Generalized amyotrophy	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0003700	HP:0003700	Generalized amyotrophy	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0003700	HP:0003700	Generalized amyotrophy	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0003700	HP:0003700	Generalized amyotrophy	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	2
HP:0003700	HP:0003700	Generalized amyotrophy	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0003700	HP:0003700	Generalized amyotrophy	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	20
HP:0003700	HP:0003700	Generalized amyotrophy	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0003700	HP:0003700	Generalized amyotrophy	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0003700	HP:0003700	Generalized amyotrophy	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0003700	HP:0003700	Generalized amyotrophy	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0003700	HP:0003700	Generalized amyotrophy	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0003700	HP:0003700	Generalized amyotrophy	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0003700	HP:0003700	Generalized amyotrophy	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003700	HP:0003700	Generalized amyotrophy	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0003700	HP:0003700	Generalized amyotrophy	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0003700	HP:0003700	Generalized amyotrophy	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0003700	HP:0003700	Generalized amyotrophy	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0003700	HP:0003700	Generalized amyotrophy	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0003700	HP:0003700	Generalized amyotrophy	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	7128
HP:0003700	HP:0003700	Generalized amyotrophy	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0003700	HP:0003700	Generalized amyotrophy	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	106
HP:0003700	HP:0003700	Generalized amyotrophy	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003700	HP:0003700	Generalized amyotrophy	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003700	HP:0003700	Generalized amyotrophy	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0003700	HP:0003700	Generalized amyotrophy	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0003700	HP:0003700	Generalized amyotrophy	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:0003700	HP:0003700	Generalized amyotrophy	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0003700	HP:0003700	Generalized amyotrophy	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures		2
HP:0003700	HP:0003700	Generalized amyotrophy	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0003700	HP:0003700	Generalized amyotrophy	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia		45
HP:0003700	HP:0003700	Generalized amyotrophy	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	57
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0003700	HP:0009055	Generalized limb muscle atrophy	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	45