Muscle Diseases Category (1950 diseases)

Including: Muscles, tendons, ligaments, Myocytes
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	58
2	P	SPN408	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	55
3	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	43
4	c	SPN395	Spinal Muscular Atrophy, Type Ii	49
5	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	43
6	c	SPN393	Spinal Muscular Atrophy, Type I	55
7	c	SPN394	Spinal Muscular Atrophy, Type Iii	52
8	P	SPN046	Spinal Muscular Atrophy	62
9	c	SPN398	Spinal Muscular Atrophy, Type Iv	43
10	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	60
11	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	58
12	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	46
13	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	48
14	c	SPN385	Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	33
15	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	44
16		SPN188	Spinal Muscular Atrophy, Distal, X-Linked 3	46
17	c	PRG001	Progressive Muscular Atrophy	46
18	c	SPN326	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	34
19	c	NRN036	Neuronopathy, Distal Hereditary Motor, Type Viii	33
20		MYP152	Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures	32
21	P	SPN460	Spinal Muscular Atrophy with Lower Extremity Predominant	31
22	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	41
23	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	39
24		GLY061	Glycogen Storage Disease 0, Muscle	33
25		PRM321	Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments	6
26	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	38
27	c	GLY008	Glycogen Storage Disease Ii	72
28	c	GLY060	Glycogen Storage Disease Ia	66
29	c	GLY003	Glycogen Storage Disease Iii	65
30	c	GLY007	Glycogen Storage Disease Iv	64
31	c	GLY005	Glycogen Storage Disease Vi	59
32	c	GLY011	Glycogen Storage Disease Vii	57
33	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	50
34	c	GLY115	Glycogen Storage Disease Ixd	48
35	c	GLY016	Glycogen Storage Disease Ib	46
36	c	GLY044	Glycogen Storage Disease Ixc	43
37	c	GLY043	Glycogen Storage Disease Xii	37
38	c	GLY006	Glycogen Storage Disease Viii	36
39	c	GLY017	Glycogen Storage Disease Ic	32
40	c	GLY093	Glycogen Storage Disease Ixa	28
41	c	GLY001	Glycogen Storage Disease Ix	23
42	c	SCP012	Scapuloperoneal Myopathy, Myh7-Related	39
43		DCH002	Duchenne and Becker Muscular Dystrophy	37
44	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	37
45	P	SCP010	Scapuloperoneal Myopathy	32
46	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	23
47	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	33
48	P	RGD004	Rigid Spine Muscular Dystrophy	22
49	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	56
50	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	37
51	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	33
52	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	29
53	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	29
54	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	29
55	c	GLY004	Glycogen Storage Disease V	65
56	c	GLY059	Glycogen Storage Disease Xiii	29
57		AMY098	Amyotrophy, Monomelic	36
58	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	30
59	c	SPN191	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	40
60		SPN426	Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant	35
61	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	32
62	c	MSC191	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	29
63		SCP002	Scapuloperoneal Spinal Muscular Atrophy	56
64		FBR094	Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement	34
65	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	34
66	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	29
67		MSC132	Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism	24
68		ACN028	Acanthosis Nigricans with Muscle Cramps and Acral Enlargement	19
69		SPN267	Spinal Muscular Atrophy, Jokela Type	35
70	c	SPN355	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3	34
71		TKL001	Tukel Syndrome	26
72	c	ATS418	Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2	23
73		CST006	Costocoracoid Ligament, Congenitally Short	14
74		FBR011	Fibrodysplasia Ossificans Progressiva	69
75		OSS014	Ossification of the Posterior Longitudinal Ligament of Spine	46
76		MYP071	Myopathy Due to Myoadenylate Deaminase Deficiency	45
77	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	41
78	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	34
79	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	30
80		SPN204	Spinal Muscular Atrophy, Late-Onset, Finkel Type	27
81	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	25
82	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	52
83	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	39
84	c	ATS424	Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	29
85	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	34
86	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	33
87	P	LMN012	Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	30
88	P	CLP009	Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	29
89	c	LSS025	Lissencephaly 5	39
90		BRW006	Brown Syndrome	28
91	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	27
92		MSC141	Muscular Dystrophy, Congenital, Davignon-Chauveau Type	24
93		GLT037	Gluteal Muscles, Absence of	15
94	c	CNG012	Congenital Generalized Lipodystrophy	65
95	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	59
96	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	54
97	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	46
98	P	ACQ022	Acquired Generalized Lipodystrophy	46
99	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	38
100	c	SPN255	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5	29
101		CRB160	Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes	27
102		MSC133	Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus	19
103		ADP007	Adie Pupil	40
104		SCP009	Scapuloperoneal Myopathy, X-Linked Dominant	32
105	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	25
106		CRD256	Cardiac Arrhythmia Syndrome, with or Without Skeletal Muscle Weakness	24
107	c	FBR078	Fibrosis of Extraocular Muscles, Congenital, 5	20
108		TND002	Tendons, Extensor, of Fingers, Anomalous Insertion of	18
109		APL029	Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy	17
110		TNS001	Tenosynovial Giant Cell Tumor	55
111	P	CNG047	Congenital Fibrosis of the Extraocular Muscles	48
112		PST020	Postpoliomyelitis Syndrome	46
113	c	GLY057	Glycogen Storage Disease X	38
114		WLN001	Welander Distal Myopathy	37
115	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	34
116		TBL022	Tibial Muscular Dystrophy, Tardive	33
117		CHL155	Childhood Spinal Muscular Atrophy	32
118		RPP004	Rippling Muscle Disease with Myasthenia Gravis	13
119		SPN278	Spinal Muscular Atrophy with Respiratory Distress Type 2	8
120	c	SPN461	Spinal Muscular Atrophy with Lower Extremity Predominant 2a	6
121		HYP052	Hyperkalemic Periodic Paralysis	63
122	c	DYS191	Dystonia 1, Torsion, Autosomal Dominant	47
123	c	CRS016	Crisponi/cold-Induced Sweating Syndrome 1	43
124	P	PRX014	Proximal Spinal Muscular Atrophy	35
125		SPN428	Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant	26
126	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	25
127	c	TRS025	Torsion Dystonia 2	25
128		CMP076	Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases	25
129	c	DYS068	Dystonia 7, Torsion	24
130	c	TRS027	Torsion Dystonia 4	24
131	c	DYS184	Dystonia 17, Torsion, Autosomal Recessive	20
132	c	PMG002	Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	14
133	P	TRS005	Torsion Dystonia with Onset in Infancy	14
134		SPN399	Spinal Muscular Atrophy, Ryukyuan Type	14
135	P	CLD004	Cold-Induced Sweating Syndrome Including Crisponi Syndrome	14
136	c	SPN463	Spinal Muscular Atrophy with Lower Extremity Predominant 1	9
137	c	SPN462	Spinal Muscular Atrophy with Lower Extremity Predominant 2b	6
138	c	TRS028	Torsion Dystonia 17	5
139		DSM004	Desmoid Tumor	67
140		MSC007	Muscle Hypertrophy	59
141		MYT030	Myotonia, Potassium-Aggravated	46
142	c	XLN241	X-Linked Emery-Dreifuss Muscular Dystrophy	42
143		CYC001	Cycloplegia	41
144	c	DYS063	Dystonia 2, Torsion, Autosomal Recessive	29
145		CNG428	Congenital Muscular Dystrophy Without Intellectual Disability	25
146	c	SPN444	Spinal Muscular Atrophy Type 0	23
147	P	TRT019	Torticollis	50
148		MDN008	Median Arcuate Ligament Syndrome	36
149		DYT002	Dyt1 Early-Onset Isolated Dystonia	34
150	c	CNG129	Congenital Torticollis	25
151		SPN447	Spinal Muscular Atrophy, Infantile, James Type	24
152	c	MSC202	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	22
153	c	MSC199	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	20
154		MXD017	Mixed Endometrial Stromal and Smooth Muscle Tumor	19
155	c	FBR081	Fibrosis of Extraocular Muscles, Congenital, 3c	17
156	c	FCS017	Facioscapulohumeral Muscular Dystrophy 4, Digenic	17
157	c	FCS016	Facioscapulohumeral Muscular Dystrophy 3, Digenic	16
158		SKL034	Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus	14
159		ATS237	Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	13
160		TND001	Tendon Sheath Lipoma	10
161		HMN015	Hamanishi Ueba Tsuji Syndrome	9
162		UTR041	Uterine Ligament Cancer	7
163		PRM057	Paramyotonia Congenita of Von Eulenburg	61
164	P	DYS193	Dystonia 11, Myoclonic	54
165		URG005	Uruguay Faciocardiomusculoskeletal Syndrome	47
166	c	MYT029	Myotonia Congenita, Autosomal Recessive	46
167	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	45
168	c	DYS175	Dystonia 26, Myoclonic	28
169		MYP114	Myopathy, Scapulohumeroperoneal	26
170		VCL008	Vacuolar Neuromyopathy	24
171		BRW002	Brown's Tendon Sheath Syndrome	23
172		MSC201	Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome	21
173	c	DYS220	Dystonia 34, Myoclonic	20
174		MSC158	Muscular Dystrophy, Scapulohumeral	19
175	c	DYS058	Dystonia 15, Myoclonic	19
176		MST022	Masticatory Muscles, Hypertrophy of	19
177		KCH001	Kocher-Debre-Semelaigne Syndrome	14
178	c	LMN013	Laminin Subunit Alpha 2-Related Muscular Dystrophy	13
179		MSC156	Muscular Dystrophy, Progressive Pectorodorsal	10
180		SPN341	Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	9
181	c	CLP008	Calpain-3-Related Limb-Girdle Muscular Dystrophy D4	6
182		LMN014	Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23	4
183		ADL062	Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type	3
184	P	CTS001	Cutis Laxa	57
185	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
186	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
187		BRS064	Bursitis	51
188		DYS064	Dystonia 3, Torsion, X-Linked	51
189	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	48
190	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
191	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	47
192	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	47
193	c	ATS393	Autosomal Recessive Cutis Laxa Type I	46
194	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
195	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	45
196	P	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	44
197	P	CLD003	Cold-Induced Sweating Syndrome	43
198	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
199	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	39
200	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
201		DYS030	Dysferlinopathy	38
202	c	DYS163	Dystonia 4, Torsion, Autosomal Dominant	36
203	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
204	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
205		CNG427	Congenital Muscular Dystrophy with Intellectual Disability	32
206	c	CTS048	Cutis Laxa, Autosomal Recessive, Type Iie	31
207		CNG426	Congenital Muscular Dystrophy with Cerebellar Involvement	30
208	c	ULL003	Ullrich Congenital Muscular Dystrophy 2	29
209	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
210		MSC129	Muscular Pseudohypertrophy-Hypothyroidism Syndrome	22
211	c	CLD017	Cold-Induced Sweating Syndrome 3	22
212	c	SPN465	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	22
213		CNG248	Congenital Smooth Muscle Hamartoma	20
214	c	ACQ027	Acquired Cutis Laxa	20
215	c	LTB003	Ltbp4-Related Cutis Laxa	19
216	c	FBL003	Fbln5-Related Cutis Laxa	18
217		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	15
218	c	ELN002	Eln-Related Cutis Laxa	14
219	c	EFM001	Efemp2-Related Cutis Laxa	13
220		SPN083	Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome	13
221		CMR005	Camera-Marugo-Cohen Syndrome	13
222		SYM016	Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers	12
223		SPN387	Spinal Muscular Atrophy, Segmental	8
224	c	KLH009	Klhl7-Related Cold-Induced Sweating-Like Syndrome	6
225		CHL130	Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome	5
226	c	NRC009	Narcolepsy 1	54
227	P	MRN003	Marinesco-Sjogren Syndrome	53
228		PGM001	Pigmented Villonodular Synovitis	50
229		ENT004	Enthesopathy	48
230	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	46
231	P	MYS047	Myasthenic Syndrome, Congenital, 1b, Fast-Channel	42
232		SPS057	Spasticity	42
233		MYS054	Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency	41
234	c	NRC010	Narcolepsy 2	41
235		ERL030	Early-Onset Generalized Limb-Onset Dystonia	38
236	c	MYS070	Myasthenic Syndrome, Congenital, 19	36
237	c	MYS060	Myasthenic Syndrome, Congenital, 4b, Fast-Channel	36
238	c	MYF007	Myofibromatosis, Infantile, 1	36
239	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	36
240	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	35
241		MYP067	Myopathy, Distal, Tateyama Type	33
242	c	MYS065	Myasthenic Syndrome, Congenital, 18	30
243		MYP149	Myopathy, Mitochondrial, and Ataxia	30
244		MYS063	Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency	29
245		SRC011	Sarcocystosis	28
246		ATM005	Autoimmune Disease of Musculoskeletal System	28
247		MTC025	Mitochondrial Myopathy with Diabetes	27
248		ACC002	Accommodative Spasm	26
249	c	MYP116	Myopathy, Distal, 5	26
250		FCL041	Focal Myositis	26
251		CYL001	Cayler Cardiofacial Syndrome	25
252	c	MYS049	Myasthenic Syndrome, Congenital, 3b, Fast-Channel	24
253	c	NRC017	Narcolepsy 7	22
254	c	ERL063	Early-Onset Isolated Dystonia	21
255		MYS050	Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency	21
256	c	ATS425	Autosomal Recessive Distal Hereditary Motor Neuronopathy	20
257		LVT001	Levator Syndrome	20
258	P	ISL135	Isolated Dystonia	20
259		MYP161	Myopathy, Congenital Proximal, with Minicore Lesions	18
260	c	NRC011	Narcolepsy 3	18
261		CNG393	Congenital Muscular Dystrophy with Hyperlaxity	14
262		HRD222	Hereditary Continuous Muscle Fiber Activity	14
263		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	14
264	c	NRC012	Narcolepsy 4	14
265		RPT005	Repetitive Motion Disorders	13
266	c	NRC018	Narcolepsy 6	13
267	c	NRC013	Narcolepsy 5	13
268		MST003	Masters-Allen Syndrome	11
269	c	ATS433	Autosomal Dominant Proximal Spinal Muscular Atrophy	10
270		PLV002	Pelvic Muscle Wasting	8
271	c	MRN006	Marinesco-Sjogren-Like Syndrome	6
272		UTR060	Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease	5
273		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	5
274		MSC031	Muscular Phosphorylase Kinase Deficiency	5
275	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
276	c	LNG044	Long Qt Syndrome 1	67
277	P	CRN015	Cornelia De Lange Syndrome	66
278	P	LNG028	Long Qt Syndrome	63
279	P	EPL198	Epilepsy, Myoclonic Juvenile	62
280	c	CRN139	Cornelia De Lange Syndrome 1	62
281	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
282		INT146	Intervertebral Disc Disease	61
283		HYP706	Hypermobile Ehlers-Danlos Syndrome	60
284	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
285	P	INF049	Infantile Myofibromatosis	57
286	c	MYS051	Myasthenic Syndrome, Congenital, 5	56
287	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
288	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
289	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
290	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
291	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
292	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
293	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
294	c	FML191	Familial Long Qt Syndrome	48
295	P	CRY038	Carey-Fineman-Ziter Syndrome 1	48
296	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
297	c	CRN134	Cornelia De Lange Syndrome 2	47
298	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	47
299	c	LNG050	Long Qt Syndrome 5	47
300	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
301	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
302	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
303	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
304	c	LNG051	Long Qt Syndrome 6	45
305	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
306	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
307	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
308	c	LNG053	Long Qt Syndrome 9	44
309	c	FML363	Familial Adult Myoclonic Epilepsy	44
310	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
311	c	LNG098	Long Qt Syndrome 14	44
312	c	LNG096	Long Qt Syndrome 15	43
313	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	43
314	c	MYC083	Myoclonic Epilepsy, Familial Infantile	43
315	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
316	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
317	c	LNG056	Long Qt Syndrome 12	42
318	c	DYS067	Dystonia 6, Torsion	42
319	c	LNG057	Long Qt Syndrome 13	42
320	c	LNG046	Long Qt Syndrome 11	42
321	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
322	c	LNG045	Long Qt Syndrome 10	42
323		MYT011	Myotonia	42
324		CMB017	Combined Oxidative Phosphorylation Deficiency 6	41
325	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
326	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	41
327	c	MYS076	Myasthenic Syndrome, Congenital, 8	41
328	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
329	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
330	c	CRN209	Cornelia De Lange Syndrome 5	40
331	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
332	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
333	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
334		MYS057	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency	40
335		CMP017	Camptocormism	39
336		CRV043	Cervical Dystonia	38
337	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	37
338		DFF004	Diffuse Peritoneal Leiomyomatosis	37
339	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	36
340	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
341	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
342	c	DYS146	Dystonia 24	36
343	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
344	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
345	c	EPL155	Epilepsy, Progressive Myoclonic, 8	35
346	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	34
347	c	EPL134	Epilepsy, Progressive Myoclonic 7	34
348	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
349		NDL002	Nodular Tenosynovitis	33
350		CPM001	Cap Myopathy	33
351	c	MYS077	Myasthenic Syndrome, Congenital, 15	33
352	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	32
353	c	EPL009	Epilepsy Progressive Myoclonic Type 3	32
354		MCH006	Mechanical Strabismus	31
355	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	31
356	c	EPL188	Epilepsy, Progressive Myoclonic, 10	31
357		MCR067	Microcoria, Congenital	30
358	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	30
359		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	30
360		PLY114	Polyglucosan Body Myopathy 2	29
361	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	29
362	c	EPL154	Epilepsy, Progressive Myoclonic, 9	28
363	c	SPS013	Spastic Paraplegia 8	28
364	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
365	c	MYC086	Myoclonic Epilepsy, Juvenile 4	28
366	c	LNG052	Long Qt Syndrome 8	28
367	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
368		MCR039	Macrophagic Myofasciitis	27
369	c	MYC068	Myoclonic Epilepsy of Infancy	27
370	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	27
371	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	27
372	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	26
373	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
374	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
375		MYP155	Myopathy, Congenital, with Tremor	25
376	c	LNG114	Long Qt Syndrome 16	25
377	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
378		MSC193	Muscular Lipidosis	24
379	c	PRG106	Progressive Muscular Dystrophy	24
380	c	EPL254	Epilepsy, Progressive Myoclonic, 11	23
381	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
382	c	MYC085	Myoclonic Epilepsy, Juvenile 3	23
383	c	EPL210	Epilepsy, Progressive Myoclonic, 6	22
384	c	EPL217	Epilepsy, Juvenile Myoclonic 10	21
385		DST013	Distal Myopathy with Vocal Cord Weakness	21
386	c	MYP158	Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	21
387	P	SKL032	Skeletal Muscle Disease	21
388	c	OCL085	Oculopharyngodistal Myopathy 4	21
389		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	20
390	c	EPL257	Epilepsy, Progressive Myoclonic, 12	20
391	c	CRY039	Carey-Fineman-Ziter Syndrome 2	18
392		OSL002	O'sullivan-Mcleod Syndrome	18
393		MYP167	Myopathy, Distal, 7, Adult-Onset, X-Linked	17
394	c	EPL186	Epilepsy, Juvenile Myoclonic 9	15
395		CHR644	Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined	15
396		OCL023	Ocular Muscular Dystrophy	14
397		FBR096	Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence	13
398		MSC192	Muscular Glycogenosis	12
399	P	ATS428	Autosomal Recessive Distal Hereditary Motor Neuropathy	12
400		SYM014	Symbrachydactyly of Hands and Feet	12
401		SPN386	Spinal Muscular Atrophy, Facioscapulohumeral Type	12
402		LM2002	Lama2 Muscular Dystrophy	11
403		HYP751	Hypertrophia Musculorum Vera	10
404		MSC153	Muscular Dystrophy, Cardiac Type	10
405		MSC151	Muscular Hypertonia, Lethal	9
406		MSC144	Muscular Atrophy, Malignant Neurogenic	9
407		MSC149	Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy	9
408		AN5002	Ano5 Muscle Disease	9
409		MSC054	Muscle Strength Quantitative Trait Locus 1	9
410		UDD002	Udd Distal Myopathy - Tibial Muscular Dystrophy	9
411	c	CNG628	Congenital Disorder of Glycosylation Iw	9
412		EPS012	Episodic Muscle Weakness, X-Linked	9
413		SPR121	Superior Transverse Scapular Ligament, Calcification of, Familial	9
414		MSC150	Muscular Dystrophy, Congenital, with Rapid Progression	8
415		MSC146	Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries	8
416		MYP061	Myopathy with Hexagonally Cross-Linked Tubular Arrays	8
417		MSC194	Muscular Tumor	8
418		PLY164	Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive	8
419		MSC147	Muscular Hypoplasia, Congenital Universal, of Krabbe	8
420		GNT125	Genetic Skeletal Muscle Disease	8
421		MSC154	Muscular Dystrophy, Hemizygous Lethal Type	8
422		MSC145	Muscular Dystrophy, Barnes Type	7
423		CHR643	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita	7
424		PLM161	Palmaris Longus Muscle, Absence of	7
425		PRN065	Peroneus Tertius Muscle, Absence of	7
426		CLL037	Collagen Vi Related Muscular Dystrophy	7
427		TBL002	Tibial Collateral Ligament Bursitis	7
428		MSC197	Muscular Channelopathy	7
429	c	ACQ057	Acquired Skeletal Muscle Disease	7
430	P	DSR041	Disorder of Multiple Glycosylation	6
431		MSC155	Muscular Dystrophy, Mabry Type	6
432		MSC160	Muscular Dystrophy, Congenital, with Cerebellar Atrophy	4
433		CNG050	Congenital Absence of the Sternocleidomastoid Muscle	4
434		LTN025	Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies	4
435		GNG007	Ganglion or Cyst of Synovium/tendon/bursa	4
436		FBL001	Fibular Collateral Ligament Bursitis	4
437	c	CNG061	Congenital Benign Spinal Muscular Atrophy Dominant	3
438		BLB006	Bulbospinal Muscular Atrophy of Adult	3
439		MSC198	Musculoskeletal Disease with Cataract	3
440		BLB007	Bulbospinal Muscular Atrophy of Childhood	3
441		GNR047	Generalized Bulbospinal Muscular Atrophy	3
442		HYP853	Hypercontractile Muscle Stiffness Syndrome	3
443	P	NRL027	Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect	3
444		ART039	Arthrogryposis Due to Muscular Dystrophy	3
445		GNT172	Genetic Neurological Muscular Channelopathy	3
446	c	NRL030	Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect	3
447		LMN007	Laminopathy with Striated Muscle Involvement	2
448		MSC030	Muscular Fibrosis Multifocal Obstructed Vessels	1
449		MSC152	Muscular Dystrophy, Becker Type	72
450		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	63
451		FCS012	Facioscapulohumeral Muscular Dystrophy 1	62
452		MSC162	Muscular Dystrophy, Congenital Merosin-Deficient, 1a	61
453	c	ART061	Arthrogryposis, Distal, Type 2a	60
454	P	GLY013	Glycogen Storage Disease	59
455	c	MYP072	Myopathy, Myofibrillar, 1	57
456	c	LNG048	Long Qt Syndrome 3	56
457	P	SCK002	Sick Sinus Syndrome	55
458	P	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	54
459	P	CNT004	Centronuclear Myopathy	54
460		SPS003	Spastic Diplegia	54
461		CNG046	Congenital Fiber-Type Disproportion	52
462	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	50
463		GSG001	Gas Gangrene	49
464	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	49
465	c	CHR095	Chronic Progressive External Ophthalmoplegia	49
466		BCK006	Back Pain	48
467	P	MYF003	Myofibrillar Myopathy	48
468	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	48
469		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	47
470	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	47
471	P	DMY001	Demyelinating Polyneuropathy	46
472	c	MYP080	Myopathy, Myofibrillar, 4	45
473		MYF002	Myofascial Pain Syndrome	44
474	P	BLP003	Blepharospasm	44
475		DPH021	Diaphragm Disease	43
476		SPN009	Spindle Cell Rhabdomyosarcoma	42
477		MTC004	Mitochondrial Encephalomyopathy	42
478		FCL022	Focal Dystonia	42
479	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	41
480	c	MYT027	Myotonia Congenita, Autosomal Dominant	40
481		3MT011	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	40
482	P	MYG005	Myoglobinuria	40
483	c	BLP048	Blepharospasm, Benign Essential	40
484		PSD016	Pseudosarcomatous Fibromatosis	39
485		RCK002	Rocky Mountain Spotted Fever	38
486		CMB052	Combined Oxidative Phosphorylation Deficiency 20	38
487	c	DYS151	Dystonia 25	37
488		WHP002	Whiplash	36
489	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	36
490		DPH006	Diaphragmatic Eventration	35
491		CLL043	Collagen Vi-Related Dystrophies	35
492	c	ART168	Arthrogryposis, Distal, Type 1c	35
493	c	MYP106	Myopathy, Myosin Storage, Autosomal Recessive	34
494		MYS016	Myosclerosis, Autosomal Recessive	32
495	c	SCK017	Sick Sinus Syndrome 1	32
496		RMN001	Rumination Disorder	31
497	c	MYP088	Myopathy, Tubular Aggregate, 2	31
498	c	MYG007	Myoglobinuria, Recurrent	31
499		DYS198	Dystonia, Focal, Task-Specific	30
500	c	SCK014	Sick Sinus Syndrome 2	30
501		MYP157	Myopathy, Congenital, with Structured Cores and Z-Line Abnormalities	30
502	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	29
503	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	29
504		CLC004	Calcific Tendinitis	29
505		INT013	Intramuscular Hemangioma	29
506	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	29
507		EPT011	Epithelioid Leiomyosarcoma	29
508	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	28
509	c	INF031	Inflammatory Leiomyosarcoma	28
510		PRX013	Proximal Chromosome 18q Deletion Syndrome	28
511	c	ART131	Arthrogryposis, Distal, Type 4	27
512	c	FML272	Familial Sick Sinus Syndrome	27
513	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	26
514		TRG006	Trigger Thumb	25
515		CNG032	Congenital Structural Myopathy	25
516		MYP121	Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	24
517		CRD016	Cardiac Rupture	24
518	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	23
519		MYP156	Myopathy, Congenital, Progressive, with Scoliosis	23
520		GLL016	Gallbladder Leiomyosarcoma	23
521	c	SCK022	Sick Sinus Syndrome 3	22
522	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	22
523		MYS002	Myositis Fibrosa	22
524	c	MYF012	Myofibrillar Myopathy 11	22
525		PRK103	Parkinsonism with Polyneuropathy	21
526		GRN036	Granulomatous Myositis	21
527		OCL082	Oculomotor-Abducens Synkinesis	20
528	c	SBC037	Subacute Inflammatory Demyelinating Polyneuropathy	20
529	c	OCL080	Oculopharyngodistal Myopathy 2	20
530		CNG108	Congenital Mitral Stenosis	20
531		TBL004	Tibialis Tendinitis	19
532	P	RDC010	Reducing Body Myopathy	19
533	P	WHS002	Whistling Face Syndrome, Recessive Form	19
534	c	SCK050	Sick Sinus Syndrome 4	18
535		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	18
536		CNG240	Congenital Unilateral Hypoplasia of Depressor Anguli Oris	18
537		MYP039	Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked	18
538	c	MYG006	Myoglobinuria, Autosomal Dominant	17
539	c	CHR688	Chronic Acquired Demyelinating Polyneuropathy	16
540		RHB025	Rhabdomyolysis-Myalgia Syndrome	16
541		XLN132	X-Linked Intellectual Disability, Schimke Type	16
542	c	ADL074	Adult-Onset Distal Myopathy Due to Vcp Mutation	15
543	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	15
544	P	MYP124	Myopathy, Distal, Infantile-Onset	14
545	c	ATS432	Autosomal Dominant Distal Myopathy	13
546		SPR003	Superior Vena Cava Leiomyosarcoma	13
547	c	KLH005	Klhl9-Related Early-Onset Distal Myopathy	12
548		TRC088	Trochleitis	11
549	c	ATS431	Autosomal Recessive Distal Myopathy	11
550		CHL054	Childhood Pleomorphic Rhabdomyosarcoma	9
551		MDS017	Mediastinum Leiomyosarcoma	9
552	P	TTL001	Total Internal Ophthalmoplegia	8
553	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	8
554	c	ADL031	Adult Botryoid Rhabdomyosarcoma	8
555		HRD119	Hereditary Inclusion Body Myopathy Type 4	6
556		ANS008	Anus Rhabdomyosarcoma	6
557	c	RDC017	Reducing Body Myopathy 1a	4
558	c	RDC018	Reducing Body Myopathy 1b	4
559	c	ACT242	Acute and Subacute Inflammatory Demyelinating Polyneuropathy	4
560	c	ATS473	Autosomal Recessive Whistling Face Syndrome	4
561	c	NRN037	Neuronopathy, Distal Hereditary Motor, Type Va	53
562		EPD099	Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy	52
563	c	GLY097	Glycogen Storage Disease Ixb	49
564		NRM016	Neuromyotonia and Axonal Neuropathy, Autosomal Recessive	45
565		PLN006	Poland Syndrome	46
566	c	NRN025	Neuronopathy, Distal Hereditary Motor, Type Viia	40
567	c	NRN024	Neuronopathy, Distal Hereditary Motor, Type Vb	24
568		QZM001	Qazi Markouizos Syndrome	22
569	c	NRN053	Neuronopathy, Distal Hereditary Motor, Type X	12
570	P	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	60
571	c	NRN026	Neuronopathy, Distal Hereditary Motor, Type Iid	37
572	c	NRN035	Neuronopathy, Distal Hereditary Motor, Type Iia	33
573	c	NRN050	Neuronopathy, Distal Hereditary Motor, Type Vc	29
574	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	67
575		STY001	Satoyoshi Syndrome	31
576	c	NRN027	Neuronopathy, Distal Hereditary Motor, Type I	29
577		DWR023	Dwarfism, Familial, with Muscle Spasms	14
578		RND001	Round Ligament Malignant Neoplasm	8
579	P	CHR071	Charcot-Marie-Tooth Disease	64
580		ABD009	Abducens Palsy	44
581	c	DST106	Distal Hereditary Motor Neuronopathy Type 2	41
582		MLG019	Malignant Giant Cell Tumor of the Tendon Sheath	28
583	P	CRP001	Carpal Tunnel Syndrome	66
584	c	HRD138	Hereditary Motor and Sensory Neuropathy V	34
585		VSC049	Visceral Myopathy, Familial, with External Ophthalmoplegia	26
586	c	SH3001	Sh3tc2-Related Hereditary Motor and Sensory Neuropathy	15
587	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	12
588	P	CHR625	Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	59
589	P	CHR453	Charcot-Marie-Tooth Hereditary Neuropathy	42
590		SLH001	Salih Myopathy	38
591	c	CHR121	Charcot-Marie-Tooth Neuropathy X Type 5	17
592		BRD006	Broad Ligament Malignant Neoplasm	8
593	c	DLT002	Dilated Cardiomyopathy	79
594		DNN001	Danon Disease	60
595	c	CRD093	Cardiomyopathy, Dilated, 1a	55
596		RSS026	Roussy-Levy Hereditary Areflexic Dystasia	55
597	c	CRD099	Cardiomyopathy, Dilated, 1e	54
598	c	CRD080	Cardiomyopathy, Dilated, 1g	52
599	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	50
600	c	CRD233	Cardiomyopathy, Dilated, 1b	47
601	c	CRD097	Cardiomyopathy, Dilated, 1d	46
602	c	CRD105	Cardiomyopathy, Dilated, 1o	45
603	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	45
604	c	CRD091	Cardiomyopathy, Dilated, 1dd	43
605	c	CRD155	Cardiomyopathy, Dilated, 1kk	42
606	c	CRD069	Cardiomyopathy, Dilated, 1h	41
607	c	CRD090	Cardiomyopathy, Dilated, 1l	40
608	c	CRD063	Cardiomyopathy, Dilated, 2a	39
609	c	CRD114	Cardiomyopathy, Dilated, 1m	38
610	c	CRD101	Cardiomyopathy, Dilated, 1x	36
611	c	CRD064	Cardiomyopathy, Dilated, 1ff	36
612	c	CRD082	Cardiomyopathy, Dilated, 1gg	35
613		NRP009	Neuropathy, Hereditary Motor and Sensory, Okinawa Type	34
614	c	CRD104	Cardiomyopathy, Dilated, 1p	34
615	c	CRD159	Cardiomyopathy, Dilated, 1hh	33
616	c	CRD102	Cardiomyopathy, Dilated, 1j	33
617	c	CRD107	Cardiomyopathy, Dilated, 1r	33
618	c	CRD096	Cardiomyopathy, Dilated, 1ee	32
619	c	ATM102	Autoimmune Cardiomyopathy	29
620		PRF003	Piriformis Syndrome	26
621	c	CRD162	Cardiomyopathy, Dilated, 1ii	26
622	c	CRD111	Cardiomyopathy, Dilated, 1i	26
623	c	CRD108	Cardiomyopathy, Dilated, 1bb	26
624	c	CRD115	Cardiomyopathy, Dilated, 1cc	25
625	c	CRD149	Cardiomyopathy, Dilated, 1jj	25
626	c	CRD060	Cardiomyopathy, Dilated, 1z	25
627	c	CRD113	Cardiomyopathy, Dilated, 1v	25
628	c	CRD092	Cardiomyopathy, Dilated, 1w	25
629	c	CRD112	Cardiomyopathy, Dilated, 1u	24
630	c	CRD153	Cardiomyopathy, Dilated, 2b	24
631	c	CRD173	Cardiomyopathy, Dilated, 1nn	23
632	c	DLT017	Dilated Cardiomyopathy 1t	22
633	c	CRD250	Cardiomyopathy, Dilated, 2d	22
634	c	CRD244	Cardiomyopathy, Dilated, 2c	22
635	c	CRD261	Cardiomyopathy, Dilated, 2g	22
636	c	CRD255	Cardiomyopathy, Dilated, 2e	21
637	c	CRD260	Cardiomyopathy, Dilated, 2f	20
638	P	RRC004	Rare Cardiomyopathy	16
639	c	CRD070	Cardiomyopathy, Dilated, 1k	14
640	c	CRD071	Cardiomyopathy, Dilated, 1q	14
641	c	LMN001	Lmna-Related Dilated Cardiomyopathy	13
642	c	CRD027	Cardiomyopathy Due to Anthracyclines	5
643	c	DYS056	Dystonia 12	67
644	c	EPS035	Episodic Ataxia, Type 2	66
645	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	65
646	P	EPS003	Episodic Ataxia	60
647		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	59
648	c	EPS042	Episodic Ataxia, Type 1	58
649	P	LTR001	Lateral Sclerosis	56
650	P	NRC002	Narcolepsy	54
651	c	EPS017	Episodic Ataxia, Type 6	49
652	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	49
653	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
654	c	EPS034	Episodic Ataxia, Type 5	47
655	c	NRN040	Neuronopathy, Distal Hereditary Motor, Type Viib	46
656		AMY086	Amyotrophy, Hereditary Neuralgic	46
657	c	DYS119	Dystonia 9	43
658	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	41
659	c	DYS172	Dystonia 27	38
660	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	38
661	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	37
662		ART163	Arthrogryposis Multiplex Congenita 2, Neurogenic Type	37
663	c	EPS033	Episodic Ataxia, Type 8	37
664	P	OCL076	Oculopharyngodistal Myopathy 1	36
665	c	EPS037	Episodic Ataxia, Type 4	36
666	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	35
667	c	DYS145	Dystonia 23	33
668	c	EPS015	Episodic Ataxia, Type 7	33
669	c	EPS014	Episodic Ataxia, Type 3	32
670	c	CHR699	Charcot-Marie-Tooth Disease Type 2a2a	31
671	c	CHR026	Charcot-Marie-Tooth Disease Type X	28
672	c	EPS048	Episodic Ataxia, Type 9	27
673	c	CHR700	Charcot-Marie-Tooth Disease Type 2a2b	26
674	c	DYS212	Dystonia 30	25
675	c	HRD212	Hereditary Episodic Ataxia	24
676	c	DYS138	Dystonia 21	23
677	c	CHR571	Charcot-Marie-Tooth Disease Type 5	23
678	c	DYS219	Dystonia 33	23
679	c	KMT002	Kmt2b-Related Dystonia	21
680	c	HRD198	Hereditary Dystonia	21
681	c	DYS223	Dystonia 28	21
682	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	19
683	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	15
684	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
685	c	RRD039	Rare Dystonia	9
686	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	8
687	c	CHR572	Charcot-Marie-Tooth Disease Type 7	5
688		GTL001	Gitelman Syndrome	66
689	P	DYS154	Dystonia	66
690	P	NRP063	Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	66
691		CNV004	Canavan Disease	65
692		NRM005	Neuromuscular Disease	63
693	c	CHR627	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	58
694		LMY014	Leiomyoma, Uterine	56
695		CHR070	Chronic Inflammatory Demyelinating Polyradiculoneuropathy	54
696	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	51
697	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	51
698	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	51
699	c	CHR656	Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	50
700	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	50
701	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	49
702	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	48
703	c	CHR647	Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	48
704	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	47
705		MYS061	Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency	46
706	c	CHR670	Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	46
707		HYP265	Hypotonia	46
708	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	44
709		NRP010	Neuropathy, Hereditary Motor and Sensory, Russe Type	43
710		ALC010	Alcoholic Cardiomyopathy	41
711	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	40
712	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	39
713	P	SNG014	Singleton-Merten Syndrome	39
714	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	38
715	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	38
716	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	38
717	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	37
718	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	37
719	P	ATS426	Autosomal Dominant Distal Hereditary Motor Neuronopathy	33
720	c	SNG011	Singleton-Merten Syndrome 1	33
721	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	33
722		MLN064	Melanoma of Soft Tissue	25
723	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	23
724	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	20
725		PCH004	Pachygyria, Frontotemporal	20
726		MSC130	Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	11
727		UTR040	Uterine Ligament Adenocarcinoma	8
728		UTR002	Uterine Ligament Mucinous Adenocarcinoma	6
729		UTR001	Uterine Ligament Endometrioid Adenocarcinoma	6
730		UTR027	Uterine Ligament Clear Cell Adenocarcinoma	6
731		UTR012	Uterine Ligament Serous Adenocarcinoma	5
732	c	AMY091	Amyotrophic Lateral Sclerosis 1	87
733	P	EPL164	Epilepsy	71
734	c	DNG003	Dengue Disease	69
735	P	CNG001	Congenital Myasthenic Syndrome	65
736	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	63
737	P	MYC008	Myocarditis	62
738		ARR042	Arrhythmogenic Right Ventricular Cardiomyopathy	61
739	c	MLG084	Malignant Fibrous Histiocytoma	57
740		END021	Endomyocardial Fibrosis	56
741	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	56
742	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	56
743	P	LFT003	Left Ventricular Noncompaction	55
744		STR081	Stormorken Syndrome	55
745	c	ESS001	Essential Tremor	55
746	P	TRM003	Tremor	54
747	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
748	c	LKD019	Leukodystrophy, Hypomyelinating, 6	53
749	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	52
750	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	51
751	c	CRD187	Cardiomyopathy, Dilated, 3b	51
752	c	LKD010	Leukodystrophy, Hypomyelinating, 2	51
753	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	51
754	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	51
755	P	DNG005	Dengue Virus	51
756	c	LKD009	Leukodystrophy, Hypomyelinating, 5	50
757	P	MGL002	Megalencephalic Leukoencephalopathy with Subcortical Cysts	49
758	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	49
759	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	49
760	c	BNG023	Benign Familial Infantile Epilepsy	49
761	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	48
762	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	48
763	P	SPN448	Spondyloepimetaphyseal Dysplasia with Joint Laxity	47
764	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	47
765	c	MGL009	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	47
766	c	LKD020	Leukodystrophy, Hypomyelinating, 10	47
767	c	AMY069	Amyotrophic Lateral Sclerosis 21	47
768	c	MLG147	Malignant Hyperthermia 1	47
769	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	46
770	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	46
771	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	46
772	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	46
773	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	46
774	c	ACT076	Acute Myocarditis	46
775	c	AMY090	Amyotrophic Lateral Sclerosis 8	46
776	c	GLY009	Glycogen Storage Disease Xv	46
777		QBC001	Quebec Platelet Disorder	45
778		LYM009	Lymphocytic Choriomeningitis	45
779		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	45
780	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	44
781	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	44
782	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	44
783	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	44
784	P	FBR003	Fibrous Histiocytoma	43
785	c	FML036	Familial Periodic Paralysis	43
786	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	43
787	c	MYS052	Myasthenic Syndrome, Congenital, 10	43
788	P	PRD021	Periodic Paralysis	43
789	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	42
790		MTR007	Motor Peripheral Neuropathy	42
791	c	LKD023	Leukodystrophy, Hypomyelinating, 12	42
792	c	AMY083	Amyotrophic Lateral Sclerosis 11	42
793	P	HMF004	Hemifacial Spasm	42
794	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	41
795	c	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	41
796	c	CHR653	Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	41
797	c	MYS075	Myasthenic Syndrome, Congenital, 13	41
798	c	MYS074	Myasthenic Syndrome, Congenital, 12	41
799	c	LKD015	Leukodystrophy, Hypomyelinating, 3	41
800	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	41
801	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
802	c	LKD016	Leukodystrophy, Hypomyelinating, 9	41
803	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	40
804	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	40
805	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	39
806	c	LKD008	Leukodystrophy, Hypomyelinating, 4	39
807	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	39
808	c	AMY088	Amyotrophic Lateral Sclerosis 3	38
809		MLT075	Multifocal Motor Neuropathy	38
810	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	38
811	c	MYS067	Myasthenic Syndrome, Congenital, 22	38
812	c	LKD022	Leukodystrophy, Hypomyelinating, 13	38
813		SPS225	Spastic Paralysis, Infantile-Onset Ascending	38
814	c	LKD021	Leukodystrophy, Hypomyelinating, 11	37
815	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	37
816	c	AMY059	Amyotrophic Lateral Sclerosis 19	37
817	c	AMY067	Amyotrophic Lateral Sclerosis 18	37
818	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	36
819	P	HYP700	Hypomyelinating Leukodystrophy	36
820	c	TRM024	Tremor, Hereditary Essential, 1	35
821		MGB001	Megabladder, Congenital	35
822	c	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	34
823	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	33
824	c	AMY085	Amyotrophic Lateral Sclerosis 9	33
825	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	33
826	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	32
827	c	AMY081	Amyotrophic Lateral Sclerosis Type 12	32
828	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	32
829	c	AMY063	Amyotrophic Lateral Sclerosis 20	32
830	c	INF185	Infantile Epilepsy Syndrome	32
831	c	TRM017	Tremor, Hereditary Essential, 4	31
832	c	MLG151	Malignant Hyperthermia 5	30
833		FTD001	Foot Drop	30
834	c	LFT017	Left Ventricular Noncompaction 8	29
835	c	LFT021	Left Ventricular Noncompaction 1	29
836	c	ATM114	Autoimmune Epilepsy	29
837	c	TRM022	Tremor, Hereditary Essential, 5	28
838	c	TRM020	Tremor, Hereditary Essential, 2	28
839	c	LKD028	Leukodystrophy, Hypomyelinating, 15	28
840	c	LKD030	Leukodystrophy, Hypomyelinating, 17	28
841	c	LFT018	Left Ventricular Noncompaction 10	28
842	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	26
843	c	LKD027	Leukodystrophy, Hypomyelinating, 14	26
844	c	LKD031	Leukodystrophy, Hypomyelinating, 18	26
845	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
846	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	26
847	c	MLG167	Malignant Inflammatory Fibrous Histiocytoma	26
848	c	CRP037	Carpal Tunnel Syndrome 2	26
849	c	TRM029	Tremor, Hereditary Essential, 6	26
850	c	LKD029	Leukodystrophy, Hypomyelinating, 16	25
851	c	DST105	Distal Hereditary Motor Neuronopathy Type 7	25
852		FCL042	Facial Onset Sensory and Motor Neuronopathy	25
853	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	24
854	c	MTC234	Mitochondrial Dna Depletion Syndrome 16b	24
855	c	AMY089	Amyotrophic Lateral Sclerosis 7	24
856	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	23
857	c	MTC204	Mitochondrial Dna Depletion Syndrome 18	23
858	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	23
859		MYS083	Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant	23
860	c	LKD035	Leukodystrophy, Hypomyelinating, 22	23
861	c	AMY110	Amyotrophic Lateral Sclerosis 24	23
862	c	CHR725	Charcot-Marie-Tooth Disease, Demyelinating, Type 1h	23
863	c	MTC236	Mitochondrial Dna Depletion Syndrome 20	23
864	c	CHR681	Charcot-Marie-Tooth Disease, Demyelinating, Type 1g	23
865	c	MYF010	Myofibromatosis, Infantile, 2	23
866	c	OCL084	Oculopharyngodistal Myopathy 3	23
867	c	AMY108	Amyotrophic Lateral Sclerosis 23	22
868	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	22
869	P	TRC015	Trochlear Nerve Disease	22
870	c	NRN042	Neuronopathy, Distal Hereditary Motor, Type Ix	22
871	c	MTC213	Mitochondrial Dna Depletion Syndrome 19	21
872	c	LKD033	Leukodystrophy, Hypomyelinating, 20	21
873	c	LKD034	Leukodystrophy, Hypomyelinating, 21	21
874	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	20
875	c	AMY112	Amyotrophic Lateral Sclerosis 25	20
876	c	LFT020	Left Ventricular Noncompaction 7	20
877	c	LKD037	Leukodystrophy, Hypomyelinating, 24	20
878		ANK015	Ankylosing Vertebral Hyperostosis with Tylosis	20
879	c	TRM016	Tremor, Hereditary Essential, 3	20
880	c	INF055	Infectious Myocarditis	19
881	c	LFT011	Left Ventricular Noncompaction 2	19
882		DFN312	Deafness, Congenital, with Vitiligo and Achalasia	19
883	c	CNG621	Congenital Myasthenic Syndrome 7	17
884	c	RRP028	Rare Epilepsy	16
885	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
886	c	MGL041	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b	14
887	c	DST092	Distal Hereditary Motor Neuropathy Type 7	14
888	c	KCN020	Kcnt1-Related Epilepsy	14
889	c	DPD002	Depdc5-Related Epilepsy	13
890	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	13
891		SPN396	Spinal Muscular Atrophy with Mental Retardation	12
892		MSC159	Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers	12
893		INV014	Inverse Klippel-Trenaunay Syndrome	11
894		XLN239	X-Linked Distal Hereditary Motor Neuropathy	11
895		MSC143	Muscle Cramps, Familial	9
896		CLC062	Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm	8
897	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	8
898	c	INF177	Inflammatory and Autoimmune Disease with Epilepsy	5
899	c	RRT014	Rare Tremor Disorder	4
900	c	RRT018	Rare Trochlear Nerve Disorder	4
901	c	INF176	Infectious Disease with Epilepsy	4
902		DSR016	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement	4
903		SPN436	Spinal Muscular Atrophy Associated with Central Nervous System Anomaly	3
904	c	NRL029	Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect	3
905	c	NRL028	Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect	3
906	c	NRL031	Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect	3
907	P	MYT021	Myotonic Dystrophy 1	74
908	c	SPN225	Spondyloarthropathy 1	70
909	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	69
910	P	MYP004	Myopathy	67
911	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	66
912		LRN002	Laron Syndrome	63
913		HLT001	Holt-Oram Syndrome	62
914		CNT105	Central Core Disease of Muscle	62
915		WLK001	Walker-Warburg Syndrome	61
916	P	DRM010	Dermatomyositis	61
917		CHL028	Childhood Type Dermatomyositis	61
918		AVN001	Avian Influenza	60
919		CRT017	Cartilage Disease	58
920	P	MYS005	Myositis	58
921	P	GNT049	Giant Axonal Neuropathy 1, Autosomal Recessive	57
922	P	ATR001	Atrioventricular Septal Defect	56
923	c	ART120	Arthrogryposis, Distal, Type 3	55
924	c	NML003	Nemaline Myopathy 2	55
925	P	SPN429	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	54
926	c	MYP078	Myopathy, Myofibrillar, 3	54
927		CHR073	Choreatic Disease	54
928	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
929	c	ART119	Arthrogryposis, Distal, Type 5	53
930		TND005	Tendinitis	52
931	P	SPN052	Spondyloarthropathy	52
932	P	L2H001	L-2-Hydroxyglutaric Aciduria	52
933		ANK001	Ankylosis	51
934		SPS007	Spastic Cerebral Palsy	51
935	P	CMP008	Compartment Syndrome	51
936	c	D2H002	D-2-Hydroxyglutaric Aciduria 1	51
937	c	MYP125	Myopathy, Distal, 1	51
938	c	MYP131	Myopathy, Centronuclear, 2	50
939	P	HRD094	Hereditary Motor and Sensory Neuropathy, Type Iic	50
940	P	MYP087	Myopathy, Tubular Aggregate, 1	50
941		SGW002	Segawa Syndrome, Autosomal Recessive	50
942		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	48
943		KNG004	King-Denborough Syndrome	48
944	c	ART147	Arthrogryposis, Distal, Type 7	48
945		3MT008	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	48
946	c	EMR014	Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	47
947	c	EMR020	Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	47
948		CHR659	Chromosome 22q11.2 Duplication Syndrome	47
949		BRL010	Buruli Ulcer	47
950	P	EPD094	Epidermolysis Bullosa Simplex 1a, Generalized Severe	47
951		UNV001	Unverricht-Lundborg Syndrome	46
952		TNS014	Tenosynovitis	46
953	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	46
954	c	MYP081	Myopathy, Myofibrillar, 6	46
955	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	45
956		SNT005	Sinoatrial Node Disease	45
957	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	45
958	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	45
959		LRW001	Leri-Weill Dyschondrosteosis	44
960	c	2HY001	2-Hydroxyglutaric Aciduria	44
961	c	EMR015	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	44
962		MNK002	Monkeypox	44
963		BRK012	Broken Heart Syndrome	44
964	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	43
965	c	ART104	Arthrogryposis, Distal, Type 5d	43
966		MYS001	Myositis Ossificans	42
967	c	NML002	Nemaline Myopathy 1	42
968	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	42
969	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	42
970	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	41
971	P	FCS015	Facioscapulohumeral Muscular Dystrophy 2, Digenic	41
972	c	ART157	Arthrogryposis, Distal, Type 2b3	41
973	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	39
974		ISL151	Isolated Elevated Serum Creatine Phosphokinase Levels	39
975	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	39
976	P	MYP105	Myopathy, Myosin Storage, Autosomal Dominant	38
977	c	LTH008	Lethal Congenital Contracture Syndrome 2	38
978	c	EPD096	Epidermolysis Bullosa Simplex 1b, Generalized Intermediate	38
979		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	38
980	c	SPN430	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1	37
981		PHS018	Phosphorylase Kinase Deficiency	37
982	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	37
983	c	ART156	Arthrogryposis, Distal, Type 2b2	37
984	P	THY054	Thyrotoxic Periodic Paralysis	37
985		GLY099	Glycogen Storage Disease Ixa1	37
986	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	37
987	c	ART112	Arthrogryposis, Distal, Type 10	37
988	c	LTH026	Lethal Congenital Contracture Syndrome 4	36
989		PLY021	Polyradiculopathy	36
990	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	36
991	c	CHR683	Charcot-Marie-Tooth Disease, Axonal, Type 2ee	36
992	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	36
993	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	36
994	c	EPD113	Epidermolysis Bullosa Simplex Generalized Type	36
995	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	35
996		HYP264	Hypertonia	35
997		MSC142	Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability	35
998	c	NML021	Nemaline Myopathy 9	34
999		SHL001	Shoulder Impingement Syndrome	34
1000	P	STR101	Striatal Degeneration, Autosomal Dominant 1	34
1001		BCK005	Becker Nevus Syndrome	34
1002		ADN075	Adenomyoma	34
1003	c	NML007	Nemaline Myopathy 6	33
1004	c	THY084	Thyrotoxic Periodic Paralysis 1	33
1005	c	THY083	Thyrotoxic Periodic Paralysis 2	33
1006		CRT033	Corticobasal Degeneration	33
1007	c	EPD100	Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive	32
1008	c	ATS533	Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	31
1009	c	EPD106	Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive	31
1010	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	31
1011	c	SVR040	Severe Congenital Nemaline Myopathy	31
1012		FCL049	Focal Hand Dystonia	31
1013		MLT177	Multisystem Proteinopathy	30
1014	c	ART060	Arthrogryposis, Distal, Type 1b	30
1015	c	GLY023	Glycogen Storage Disease Type 0	30
1016	c	MSC099	Muscular Dystrophy-Dystroglycanopathy , Type B, 14	30
1017		CMB051	Combined Oxidative Phosphorylation Deficiency 21	30
1018		TRS001	Tarsal Tunnel Syndrome	30
1019		SPS016	Spasmodic Dysphonia	29
1020		EPD011	Epidemic Pleurodynia	29
1021		MYP120	Myopathy, Distal, with Rimmed Vacuoles	29
1022	c	LTH047	Lethal Congenital Contracture Syndrome 3	28
1023		MYB001	Myoblastoma	28
1024		PTL003	Patellar Tendinitis	28
1025	c	GNT045	Giant Axonal Neuropathy 2	28
1026	c	NRP065	Neuropathy, Congenital Hypomyelinating, 3	28
1027	c	ATR047	Atrioventricular Septal Defect 2	28
1028	c	INT274	Intermediate Congenital Nemaline Myopathy	27
1029	c	ART128	Arthrogryposis, Distal, Type 6	27
1030		MYC001	Myoclonic Cerebellar Dyssynergia	27
1031		ART136	Arthrogryposis, Distal, with Impaired Proprioception and Touch	26
1032		ANS018	Anismus	26
1033		JNT001	Joint Laxity, Familial	26
1034	c	MLG148	Malignant Hyperthermia 2	26
1035		MYP150	Myopathy, Centronuclear, 6, with Fiber-Type Disproportion	26
1036	c	ATR067	Atrioventricular Septal Defect 4	26
1037		WCK004	Wieacker-Wolff Syndrome, Female-Restricted	26
1038	c	ART102	Arterial Calcification, Generalized, of Infancy, 2	26
1039	c	LTH029	Lethal Congenital Contracture Syndrome 9	26
1040		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	26
1041	P	ADD006	Adducted Thumbs Syndrome	26
1042	c	LTH042	Lethal Congenital Contracture Syndrome 10	25
1043	c	LTH032	Lethal Congenital Contracture Syndrome 7	25
1044	c	SPN432	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3	25
1045	c	EPD104	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive	25
1046	c	LTH027	Lethal Congenital Contracture Syndrome 5	25
1047	c	LTH039	Lethal Congenital Contracture Syndrome 11	25
1048		CRD014	Cardiac Diverticulum	25
1049		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	25
1050	c	ATR071	Atrioventricular Septal Defect 5	25
1051	c	CHR717	Charcot-Marie-Tooth Disease Dominant Intermediate a	25
1052		MYX006	Myxoid Leiomyosarcoma	25
1053		SRB001	Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy	25
1054		LPN001	Louping Ill	25
1055	c	STR092	Striatal Degeneration, Autosomal Dominant 2	24
1056	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	24
1057	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
1058	c	ADL068	Adult-Onset Nemaline Myopathy	24
1059		CLN012	Colon Leiomyosarcoma	24
1060		MYP104	Myopathy, Vacuolar, with Casq1 Aggregates	24
1061	c	SNG012	Singleton-Merten Syndrome 2	24
1062		LNG023	Lung Leiomyosarcoma	23
1063	c	EPD108	Epidermolysis Bullosa Simplex 2a, Generalized Severe	23
1064	c	MLG149	Malignant Hyperthermia 3	23
1065	c	DYS216	Dystonia 32	23
1066	c	ANT010	Anterior Compartment Syndrome	23
1067	c	EPD109	Epidermolysis Bullosa Simplex 2b, Generalized Intermediate	22
1068	c	ATR064	Atrioventricular Septal Defect 3	22
1069	c	LTH031	Lethal Congenital Contracture Syndrome 6	22
1070	c	DYS214	Dystonia 31	22
1071	c	GNT040	Giant Axonal Neuropathy 2, Autosomal Dominant	22
1072		MSC004	Muscle Tissue Disease	21
1073		CNV006	Conventional Leiomyosarcoma	21
1074	c	MLG150	Malignant Hyperthermia 4	21
1075		NRP070	Neuropathy, Hereditary Motor, with Myopathic Features	21
1076	c	MYS019	Miyoshi Muscular Dystrophy 2	21
1077	c	CHR714	Charcot-Marie-Tooth Disease, Axonal, Type 2ff	20
1078	c	MSC200	Muscular Dystrophy-Dystroglycanopathy , Type B, 15	20
1079	c	EPD111	Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate or Severe, Autosomal Recessive	20
1080		BCP001	Bicipital Tenosynovitis	20
1081	c	ADD007	Adducted Thumbs, Congenital	19
1082		DST103	Distal Muscular Dystrophy with Anterior Tibial Onset	19
1083		MTC222	Mitochondrial Complex Iv Deficiency, Nuclear Type 15	19
1084	c	RPP007	Rippling Muscle Disease 1	19
1085	c	ART175	Arthrogryposis, Distal, Type 11	19
1086	c	MLG152	Malignant Hyperthermia 6	19
1087	c	ART054	Arthrogryposis, Distal, Type 2e	18
1088	c	VRL025	Viral Myositis	18
1089	c	CHR732	Charcot-Marie-Tooth Disease, Demyelinating, Type 1j	17
1090		THY131	Thyrotoxic Myopathy	16
1091	c	BCT018	Bacterial Myositis	16
1092	c	ATS532	Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	15
1093	c	SPN226	Spondyloarthropathy 2	15
1094		DRT001	Dartoic Leiomyoma	15
1095	c	CNG579	Congenital Nemaline Myopathy	15
1096		GNN001	Genuine Diffuse Phlebectasia	13
1097		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	13
1098	c	JVN047	Juvenile Spondyloarthropathy	13
1099	c	INT382	Intermediate Atrioventricular Septal Defect	12
1100	c	THY119	Thyrotoxic Periodic Paralysis 3	12
1101	c	HMF011	Hemifacial Spasm, Familial	12
1102		LRY014	Larynx Leiomyosarcoma	11
1103		GRN012	Granular Cell Leiomyosarcoma	11
1104	c	SPN256	Spondyloarthropathy 3	11
1105		GLL014	Gallbladder Rhabdomyosarcoma	10
1106	c	MSC203	Muscular Dystrophy-Dystroglycanopathy Type B	10
1107	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	9
1108		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	8
1109		EXT021	Extrahepatic Bile Duct Leiomyosarcoma	8
1110		MXD015	Mixed Type Rhabdomyosarcoma	6
1111	c	BNG038	Benign Autosomal Dominant Myopathy	6
1112		MDS008	Mediastinum Rhabdomyosarcoma	5
1113		ANS009	Anus Leiomyosarcoma	5
1114	c	RRD027	Rare Disease with Malignant Hyperthermia	5
1115		MYP005	Myopathy of Extraocular Muscle	4
1116		STR082	Striated Muscle Rhabdoid Tumor	4
1117		TNS002	Tenosynovitis of Foot and Ankle	4
1118		DST104	Distal Muscular Dystrophy Tateyama Type	3
1119		OSS012	Osseous Heteroplasia, Progressive	65
1120		MYP151	Myopathy, Congenital, Bailey-Bloch	58
1121	P	CNN005	Connective Tissue Disease	67
1122		NRP051	Neuropathy, Hereditary, with Liability to Pressure Palsies	57
1123	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	47
1124		ENC048	Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy	26
1125		INT580	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	19
1126		MYP160	Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures	19
1127		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	14
1128	c	RRH035	Rare Hereditary Connective Tissue Disease	8
1129	c	CRD086	Cardiomyopathy, Familial Hypertrophic, 1	73
1130	c	HMP029	Hemophilia a	73
1131	c	HMP004	Hemophilia B	70
1132	P	HYP061	Hypertrophic Cardiomyopathy	69
1133	c	PRD013	Periodic Fever, Familial, Autosomal Dominant	68
1134	P	SPN301	Spinocerebellar Ataxia 2	61
1135	c	SPN309	Spinocerebellar Ataxia 6	60
1136		LGN006	Legionnaire Disease	59
1137	c	SPN294	Spinocerebellar Ataxia 1	56
1138	c	SPN291	Spinocerebellar Ataxia 7	55
1139	c	SPN106	Spinocerebellar Ataxia 5	52
1140	P	HMP007	Hemophilia	52
1141	c	CRD236	Cardiomyopathy, Familial Hypertrophic, 25	50
1142	c	SPN100	Spinocerebellar Ataxia 27	50
1143	c	SPN296	Spinocerebellar Ataxia 17	49
1144	c	CRD085	Cardiomyopathy, Familial Hypertrophic, 4	49
1145	c	SPN308	Spinocerebellar Ataxia 28	49
1146	c	SPN305	Spinocerebellar Ataxia 11	48
1147	c	SPN304	Spinocerebellar Ataxia 8	48
1148	c	SPN293	Spinocerebellar Ataxia 12	48
1149	c	SPN312	Spinocerebellar Ataxia 14	47
1150	c	SPN314	Spinocerebellar Ataxia 10	46
1151	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	46
1152		ADN022	Adenylosuccinase Deficiency	45
1153	c	SPN104	Spinocerebellar Ataxia 34	45
1154	c	SPN101	Spinocerebellar Ataxia 29	44
1155	c	SPN286	Spinocerebellar Ataxia 40	44
1156	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	44
1157	c	SPN284	Spinocerebellar Ataxia 38	44
1158	c	SPN097	Spinocerebellar Ataxia 23	44
1159	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	44
1160	c	SPN266	Spinocerebellar Ataxia 35	44
1161	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	44
1162	c	CRD232	Cardiomyopathy, Familial Hypertrophic, 6	44
1163	c	SPN290	Spinocerebellar Ataxia 15	44
1164	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	44
1165	c	SPN283	Spinocerebellar Ataxia 37	44
1166	c	SPN247	Spinocerebellar Ataxia Type 19/22	43
1167	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	42
1168	c	SPN105	Spinocerebellar Ataxia 4	42
1169	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	42
1170	c	SPN265	Spinocerebellar Ataxia 36	42
1171	c	CRD147	Cardiomyopathy, Familial Hypertrophic, 20	41
1172	c	CRD222	Cardiomyopathy, Familial Hypertrophic, 26	41
1173		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	41
1174	c	SPN096	Spinocerebellar Ataxia 21	41
1175	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	40
1176	c	SPN099	Spinocerebellar Ataxia 26	40
1177	c	SPN103	Spinocerebellar Ataxia 31	40
1178	c	CRD087	Cardiomyopathy, Familial Hypertrophic, 10	39
1179	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	39
1180	c	SPN419	Spinocerebellar Ataxia 45	39
1181	P	DYS215	Dyskinesia with Orofacial Involvement, Autosomal Dominant	38
1182	c	CRD079	Cardiomyopathy, Familial Hypertrophic, 9	38
1183	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	38
1184	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	38
1185	c	CRD065	Cardiomyopathy, Familial Hypertrophic, 2	37
1186	c	CRD081	Cardiomyopathy, Familial Hypertrophic, 12	37
1187	c	SPN102	Spinocerebellar Ataxia 30	37
1188	c	CRD058	Cardiomyopathy, Familial Hypertrophic, 3	37
1189	c	SPN418	Spinocerebellar Ataxia 44	37
1190	c	PRM195	Primary Lateral Sclerosis, Juvenile	36
1191		SYD002	Sydenham Chorea	36
1192	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	36
1193	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	36
1194	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	36
1195	c	DYS162	Dystonia, Juvenile-Onset	35
1196	c	SPN383	Spinocerebellar Ataxia 42	35
1197	c	SPN299	Spinocerebellar Ataxia 20	35
1198	c	SPN095	Spinocerebellar Ataxia 19	35
1199	c	SPN098	Spinocerebellar Ataxia 25	35
1200	c	SPN427	Spinocerebellar Ataxia 48	35
1201	c	CRD056	Cardiomyopathy, Familial Hypertrophic, 11	34
1202	c	SPN094	Spinocerebellar Ataxia 18	34
1203	c	PRM092	Primary Lateral Sclerosis, Adult, 1	34
1204	c	CRD148	Cardiomyopathy, Familial Hypertrophic, 16	34
1205	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	34
1206	c	CRD238	Cardiomyopathy, Familial Hypertrophic, 17	34
1207	c	CRD150	Cardiomyopathy, Familial Hypertrophic, 18	33
1208	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	33
1209	c	CRD061	Cardiomyopathy, Familial Hypertrophic, 13	33
1210		MTC037	Mitochondrial Phosphate Carrier Deficiency	32
1211	c	CRD062	Cardiomyopathy, Familial Hypertrophic, 7	32
1212	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	31
1213	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	31
1214	c	CRD089	Cardiomyopathy, Familial Hypertrophic, 14	31
1215	c	ACQ014	Acquired Hemophilia	31
1216	c	ACQ042	Acquired Hemophilia a	30
1217	P	HRD214	Hereditary Periodic Fever Syndrome	30
1218	c	CRD088	Cardiomyopathy, Familial Hypertrophic, 8	29
1219	c	SPN372	Spinocerebellar Ataxia 43	29
1220	c	SPN421	Spinocerebellar Ataxia 47	28
1221		FXC001	Foix Chavany Marie Syndrome	28
1222	c	CRD083	Cardiomyopathy, Familial Hypertrophic, 15	28
1223	c	SPN451	Spinocerebellar Ataxia, Autosomal Recessive 29	27
1224	c	SPN420	Spinocerebellar Ataxia 46	26
1225	c	SPN458	Spinocerebellar Ataxia 49	26
1226	c	CRD264	Cardiomyopathy, Familial Hypertrophic, 27	26
1227	c	SPN323	Spinocerebellar Ataxia 41	26
1228	c	SPN455	Spinocerebellar Ataxia, Autosomal Recessive 31	26
1229	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
1230	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	24
1231	c	SPN440	Spinocerebellar Ataxia, Autosomal Recessive 28	24
1232	c	DYS217	Dyskinesia with Orofacial Involvement, Autosomal Recessive	24
1233	c	SPN452	Spinocerebellar Ataxia, Autosomal Recessive 30	23
1234	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
1235	c	SPN459	Spinocerebellar Ataxia, Autosomal Recessive 32	22
1236	c	CRD251	Cardiomyopathy, Familial Hypertrophic, 28	22
1237	c	SPN259	Spinocerebellar Ataxia 32	20
1238	c	CRD152	Cardiomyopathy, Familial Hypertrophic, 21	18
1239	c	SPN107	Spinocerebellar Ataxia 9	16
1240	c	ACQ071	Acquired Hemophilia B	12
1241		SPN397	Spinal Muscular Atrophy with Microcephaly and Mental Subnormality	9
1242	c	RRF013	Rare Familial Disorder with Hypertrophic Cardiomyopathy	7
1243	c	RRH034	Rare Hypertrophic Cardiomyopathy	7
1244	c	GRD008	Grid2-Related Spinocerebellar Ataxia	6
1245		OST012	Osteoarthritis	77
1246	P	CRN300	Coronary Heart Disease 1	72
1247	P	MCH002	Machado-Joseph Disease	63
1248		RHM001	Rheumatic Fever	62
1249	P	LMY004	Leiomyosarcoma	62
1250	P	HYP097	Hyperekplexia	61
1251	P	PTT014	Pitt-Hopkins Syndrome	60
1252		CYS005	Cysticercosis	60
1253	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
1254	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	59
1255		PTS001	Patau Syndrome	57
1256	c	MYT020	Myotonic Dystrophy 2	57
1257		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	57
1258		RDC002	Radiculopathy	57
1259	P	CLS054	Classic Ehlers-Danlos Syndrome	56
1260	c	MYS033	Miyoshi Muscular Dystrophy 1	56
1261	P	MSC003	Muscular Atrophy	55
1262	c	PTT029	Pitt-Hopkins-Like Syndrome 1	54
1263	P	EMR017	Emery-Dreifuss Muscular Dystrophy 1, X-Linked	53
1264	c	MYP123	Myopathy, Centronuclear, 1	53
1265		BRD054	Brody Disease	52
1266	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	51
1267		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	51
1268		LMY002	Leiomyoma	51
1269	c	DBT104	Diabetes Mellitus, Permanent Neonatal, 1	51
1270	P	PRM030	Permanent Neonatal Diabetes Mellitus	51
1271	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	50
1272		MSC072	Muscle Cancer	47
1273		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	46
1274		MYP093	Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset	46
1275	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	46
1276	P	MYC033	Myoclonus	46
1277	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	46
1278	c	SPN335	Spinocerebellar Ataxia Type 1 with Axonal Neuropathy	46
1279	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	45
1280	c	PTT030	Pitt-Hopkins-Like Syndrome 2	45
1281		49X006	49, Xxxxy Syndrome	45
1282	c	NML006	Nemaline Myopathy 5	45
1283		ORB013	Orbital Disease	44
1284	c	MYS014	Miyoshi Muscular Dystrophy 3	44
1285	P	ART106	Arterial Calcification, Generalized, of Infancy, 1	44
1286		EST005	Esotropia	43
1287	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	43
1288		MRS009	Marsili Syndrome	43
1289	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	43
1290		GLM008	Glomus Tumor	43
1291	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	42
1292	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
1293	c	MYP095	Myopathy, Distal, 4	42
1294	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	41
1295	c	EHL081	Ehlers-Danlos Syndrome, Classic-Like	41
1296	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	41
1297	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	41
1298		MRD002	Marden-Walker Syndrome	40
1299	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	40
1300	P	LTH003	Lethal Congenital Contracture Syndrome	39
1301	c	NRN041	Neuronopathy, Distal Hereditary Motor, Type Iib	39
1302		SMT002	Smooth Muscle Tumor	39
1303	c	NML005	Nemaline Myopathy 4	39
1304	c	NML022	Nemaline Myopathy 10	39
1305		MYT003	Myotonic Disease	38
1306	c	NML010	Nemaline Myopathy 7	38
1307		PRG007	Progressive Bulbar Palsy	38
1308	c	NRN018	Neuronopathy, Distal Hereditary Motor, Type Iic	37
1309	c	EMR019	Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	37
1310		DYS001	Dyskinetic Cerebral Palsy	37
1311	c	NRP064	Neuropathy, Congenital Hypomyelinating, 2	36
1312	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	36
1313		SCP005	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	35
1314	c	CRN214	Coronary Heart Disease 5	35
1315		MSC190	Muscular Disease	35
1316	c	MYP098	Myopathy, Centronuclear, 4	34
1317	c	MYS064	Myasthenic Syndrome, Congenital, 16	34
1318	c	ADL027	Adult Dermatomyositis	34
1319		BRC010	Brachial Plexus Lesion	33
1320		PRL013	Paralytic Poliomyelitis	33
1321		TYP026	Typical Congenital Nemaline Myopathy	32
1322		CHL107	Childhood-Onset Nemaline Myopathy	32
1323	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	31
1324	P	FRT001	Fourth Cranial Nerve Palsy	31
1325	c	FML084	Familial Porencephaly	30
1326	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	30
1327	P	NRD034	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant	30
1328		MLR023	Melorheostosis, Isolated	29
1329	c	DBT107	Diabetes Mellitus, Permanent Neonatal, 4	29
1330	c	SPS091	Spastic Paraplegia 4	29
1331	c	MYP112	Myopathy, Distal, 3	28
1332		46X083	46,xy Gonadal Dysgenesis with Minifascicular Neuropathy	28
1333	c	DBT105	Diabetes Mellitus, Permanent Neonatal, 2	27
1334	c	MYS056	Myasthenic Syndrome, Congenital, 17	27
1335		MYS010	Myostatin-Related Muscle Hypertrophy	27
1336	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	27
1337		ART164	Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect	26
1338		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
1339	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	26
1340		OVR035	Ovary Leiomyosarcoma	26
1341		ATR076	Atrophic Muscular Disease	26
1342		OGL001	Ogilvie Syndrome	26
1343	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	26
1344	c	DBT106	Diabetes Mellitus, Permanent Neonatal, 3	26
1345		IMG002	Imagawa-Matsumoto Syndrome	25
1346	c	MSC038	Muscular Dystrophy-Dystroglycanopathy , Type B, 4	25
1347	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	25
1348	c	MYC089	Myoclonus, Familial, 1	24
1349	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	24
1350	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
1351		MYP164	Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies	24
1352		MTC229	Mitochondrial Complex Ii Deficiency, Nuclear Type 2	23
1353	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	23
1354	c	NRD041	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive	23
1355	c	MYF011	Myofibrillar Myopathy 10	23
1356		WND002	Wandering Spleen	22
1357	c	PTT042	Pitt-Hopkins-Like Syndrome	22
1358		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	22
1359	c	CHR716	Charcot-Marie-Tooth Disease, Axonal, Type 2hh	22
1360		MYP166	Myopathy, Myofibrillar, 12, Infantile-Onset, with Cardiomyopathy	22
1361	c	NRP068	Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy	21
1362		CYL003	Cylindrical Spirals Myopathy	21
1363	c	ATS354	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z	20
1364		BNL001	Bone Leiomyosarcoma	20
1365		EPB002	Epiblepharon	19
1366		PRM138	Pure Mitochondrial Myopathy	19
1367	c	CRN174	Coronary Heart Disease 2	18
1368	c	MCH012	Machado-Joseph Disease Type 1	18
1369	c	MYC090	Myoclonus, Familial, 2	18
1370		HND005	Hand and Foot Deformity with Flat Facies	18
1371	c	CRN178	Coronary Heart Disease 6	18
1372	c	MCH013	Machado-Joseph Disease Type 3	17
1373	c	MCH014	Machado-Joseph Disease Type 2	17
1374	c	FRT006	Fourth Cranial Nerve Palsy, Familial Congenital	17
1375	c	CRN177	Coronary Heart Disease 7	17
1376		FNG010	Fingerprint Body Myopathy	16
1377	c	CRN172	Coronary Heart Disease 3	16
1378	c	CRN175	Coronary Heart Disease 4	14
1379	c	CRN173	Coronary Heart Disease 8	14
1380		PRM246	Primary Tethered Cord Syndrome	14
1381	c	TNX002	Tnxb-Related Classical-Like Ehlers-Danlos Syndrome	14
1382	c	CRN176	Coronary Heart Disease 9	13
1383		CNT030	Central Nervous System Leiomyosarcoma	12
1384		FNC068	Functional Neurologic Disorder	10
1385	c	PRM322	Primary Myoclonus	8
1386	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	7
1387		EML001	Emilin-1-Related Connective Tissue Disease	7
1388		OVR023	Ovary Rhabdomyosarcoma	6
1389		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	6
1390		CNG234	Congenital Myopathy, Paradas Type	5
1391	c	RRM008	Rare Myoclonus	5
1392	c	ADL032	Adult Vagina Botryoid Rhabdomyosarcoma	5
1393	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	62
1394	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	57
1395	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	46
1396	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	43
1397	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
1398		FDB001	Foodborne Botulism	57
1399		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	43
1400		MSS001	Masa Syndrome	62
1401		MTC026	Mitochondrial Myopathy with Lactic Acidosis	32
1402	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	71
1403	c	DPH024	Diaphragmatic Hernia, Congenital	66
1404		YLL002	Yellow Fever	62
1405	P	DST002	Distal Arthrogryposis	61
1406	P	EMB005	Embryonal Rhabdomyosarcoma	60
1407	c	LNG047	Long Qt Syndrome 2	59
1408	P	MLG056	Malignant Hyperthermia	58
1409		PSD012	Pseudoachondroplasia	57
1410		ACH005	Achalasia	57
1411	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	57
1412	c	EMR018	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	55
1413		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	55
1414	P	EPS030	Episodic Kinesigenic Dyskinesia 1	55
1415	P	HRD021	Hereditary Sensory Neuropathy	54
1416	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	54
1417		MYP153	Myopathy, Myofibrillar, 9, with Early Respiratory Failure	54
1418	P	MYS079	Miyoshi Muscular Dystrophy	53
1419	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
1420	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
1421	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	52
1422	P	MGC008	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	52
1423	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	52
1424	P	MTC133	Mitochondrial Myopathy	51
1425	P	MTC235	Mitochondrial Disease	51
1426	c	ART155	Arthrogryposis, Distal, Type 2b1	50
1427	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	50
1428	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	50
1429	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	50
1430	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	50
1431	c	HYP699	Hyperekplexia 1	50
1432	c	MYP079	Myopathy, Myofibrillar, 5	49
1433	c	PNT037	Pontocerebellar Hypoplasia, Type 3	49
1434	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	49
1435	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	49
1436	P	RPP006	Rippling Muscle Disease 2	48
1437	c	PNT036	Pontocerebellar Hypoplasia, Type 6	48
1438		TXC011	Toxocariasis	48
1439		MYP056	Myopathy, X-Linked, with Postural Muscle Atrophy	47
1440	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	47
1441	P	PNT019	Pontocerebellar Hypoplasia	46
1442	c	DYS059	Dystonia 16	46
1443	c	PNT043	Pontocerebellar Hypoplasia, Type 4	46
1444	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	46
1445	c	MYP082	Myopathy, Myofibrillar, 2	45
1446		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	45
1447		PLM030	Pleomorphic Rhabdomyosarcoma	44
1448	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	44
1449	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	44
1450	c	PNT032	Pontocerebellar Hypoplasia, Type 9	44
1451	P	NRP066	Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy	43
1452	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	43
1453	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	42
1454	c	ATM022	Autoimmune Myocarditis	42
1455	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	42
1456	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
1457	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	41
1458	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
1459	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	40
1460		DPH007	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	40
1461	c	NML025	Nemaline Myopathy 8	40
1462	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	40
1463		UTR042	Uterus Leiomyosarcoma	40
1464	c	HYP519	Hyperekplexia 3	39
1465	c	PRX088	Paroxysmal Nonkinesigenic Dyskinesia 1	39
1466	c	HYP510	Hyperekplexia 2	39
1467		TMP019	Temporomandibular Joint Anomaly	38
1468		MSC164	Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency	38
1469	c	PNT050	Pontocerebellar Hypoplasia, Type 11	38
1470	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
1471	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	37
1472		CHR387	Chromosome Xp21 Deletion Syndrome	36
1473		CMB049	Combined Oxidative Phosphorylation Deficiency 17	36
1474	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	36
1475		ART165	Arthrogryposis Multiplex Congenita 3, Myogenic Type	35
1476	c	PNT053	Pontocerebellar Hypoplasia, Type 13	35
1477		MYP035	Myopathy, Distal, with Anterior Tibial Onset	35
1478		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	35
1479	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
1480	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	34
1481		CNG538	Congenital Arthrogryposis with Anterior Horn Cell Disease	34
1482		SML014	Small Intestine Leiomyosarcoma	34
1483	c	PNT030	Pontocerebellar Hypoplasia, Type 8	34
1484	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	34
1485	c	MYP148	Myopathy, Centronuclear, 5	34
1486		CHR281	Chronic Hiccups	33
1487	c	CNG553	Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	33
1488	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	33
1489		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	31
1490	c	PNT059	Pontocerebellar Hypoplasia, Type 16	31
1491	c	NRP067	Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy	30
1492	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	30
1493	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
1494	c	PNT056	Pontocerebellar Hypoplasia, Type 15	29
1495	c	NRP036	Neuropathy, Hereditary Sensory, Type if	29
1496	c	CNG547	Congenital Muscular Dystrophy-Dystroglycanopathy Type A11	29
1497		PLM004	Pulmonary Artery Leiomyosarcoma	29
1498	c	HYP825	Hyperekplexia 4	29
1499	c	CNG550	Congenital Muscular Dystrophy-Dystroglycanopathy A14	29
1500		LBN004	Liebenberg Syndrome	28
1501	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	28
1502		ERY030	Erythrocyte Lactate Transporter Defect	27
1503		LPY002	Lipoyltransferase 1 Deficiency	27
1504	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	27
1505	c	CNG558	Congenital Muscular Dystrophy-Dystroglycanopathy Type A5	27
1506		PRM050	Primary Orthostatic Tremor	26
1507		STC018	Stac3 Disorder	26
1508	c	EPS013	Episodic Kinesigenic Dyskinesia 2	26
1509	c	PNT055	Pontocerebellar Hypoplasia, Type 14	26
1510	c	CHR701	Charcot-Marie-Tooth Disease Type 1g	26
1511		PRV023	Perivascular Epithelioid Cell Neoplasm	26
1512	c	MGC012	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	25
1513	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	25
1514	c	MGC009	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	24
1515	c	CHR724	Charcot-Marie-Tooth Disease, Demyelinating, Type 1i	24
1516	c	CNG554	Congenital Muscular Dystrophy-Dystroglycanopathy Type A1	24
1517		FTL045	Fatal Infantile Hypertonic Myofibrillar Myopathy	24
1518	c	DPH016	Diaphragmatic Hernia 3	24
1519		KRT067	Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy	23
1520		PLM104	Palmoplantar Keratoderma, Nagashima Type	23
1521	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1522	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	22
1523	c	MGC011	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	22
1524		INT391	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	22
1525	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
1526	c	CNG559	Congenital Muscular Dystrophy-Dystroglycanopathy Type A6	22
1527	c	PNT058	Pontocerebellar Hypoplasia, Type 1f	21
1528	c	PNT060	Pontocerebellar Hypoplasia, Type 17	21
1529		MSC029	Muscular Dystrophy, Congenital, Merosin-Positive	20
1530	c	MGC010	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	19
1531		ANG063	Angiolipomatosis, Familial	19
1532	c	PRX024	Paroxysmal Nonkinesigenic Dyskinesia 2	19
1533		CNM001	Canomad Syndrome	18
1534	c	CNG556	Congenital Muscular Dystrophy-Dystroglycanopathy Type A10	18
1535	c	DPH025	Diaphragmatic Hernia 2	18
1536		LCT008	Lactate Dehydrogenase Deficiency	17
1537		CNT021	Central Nervous System Rhabdomyosarcoma	16
1538	c	PRM372	Primary Mitochondrial Disorders	16
1539	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	15
1540		INF139	Infantile Choroidocerebral Calcification Syndrome	15
1541	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
1542		NNT046	Neonatal Dermatomyositis	13
1543	c	SPR097	Sporadic Hyperekplexia	12
1544		BLD037	Bile Duct Rhabdomyosarcoma	12
1545		CHL030	Childhood Botryoid Rhabdomyosarcoma	11
1546	P	HRN027	Hernia, Anterior Diaphragmatic	9
1547	c	ISC017	Isca2-Related Mitochondrial Disorder	9
1548		MCR298	Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome	8
1549		FLL007	Fallopian Tube Leiomyosarcoma	7
1550	P	VGN013	Vagina Botryoid Rhabdomyosarcoma	7
1551		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	6
1552	c	MTC198	Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes	6
1553	c	LPD015	Lipodystrophy, Familial Partial, Type 2	63
1554	P	FML012	Familial Partial Lipodystrophy	54
1555	c	LPD021	Lipodystrophy, Familial Partial, Type 3	52
1556	c	LPD034	Lipodystrophy, Familial Partial, Type 4	44
1557	c	LPD019	Lipodystrophy, Partial, Acquired	44
1558	c	LPD036	Lipodystrophy, Familial Partial, Type 6	40
1559	c	LPD040	Lipodystrophy, Familial Partial, Type 1	39
1560	c	LPD030	Lipodystrophy, Familial Partial, Type 5	36
1561	c	LPD044	Lipodystrophy, Familial Partial, Type 7	27
1562	c	AKT001	Akt2-Related Familial Partial Lipodystrophy	16
1563	P	PRK057	Parkinson Disease, Late-Onset	81
1564	c	HYP836	Hypercholesterolemia, Familial, 1	72
1565	P	HRS035	Hirschsprung Disease 1	69
1566	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	69
1567	c	FML021	Familial Hypercholesterolemia	69
1568	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	69
1569	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
1570	P	MSC005	Muscular Dystrophy	66
1571	c	ART144	Arthrogryposis, Distal, Type 1a	65
1572	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	64
1573	P	BTH005	Bethlem Myopathy 1	64
1574		PLM031	Poliomyelitis	63
1575	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	62
1576	P	EMR001	Emery-Dreifuss Muscular Dystrophy	61
1577	c	RGD003	Rigid Spine Muscular Dystrophy 1	59
1578	c	LSS005	Lissencephaly 1	59
1579	c	LSS006	Lissencephaly 2	59
1580		DYS192	Dystonia, Dopa-Responsive	58
1581	P	PLY041	Polymyositis	58
1582	P	JRV004	Jervell and Lange-Nielsen Syndrome 1	56
1583	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	56
1584	P	LMB006	Limb-Girdle Muscular Dystrophy	56
1585	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	56
1586	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	56
1587	P	HYP024	Hypoparathyroidism	56
1588		DNT005	Dentatorubral-Pallidoluysian Atrophy	55
1589	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	55
1590		MYC080	Myoclonic Epilepsy of Unverricht and Lundborg	55
1591		MYM001	Myoma	54
1592	c	HYP840	Hypercholesterolemia, Familial, 4	54
1593		MLT028	Multiminicore Disease	54
1594		OCL008	Oculopharyngeal Muscular Dystrophy	54
1595	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
1596		TBL009	Tibial Muscular Dystrophy	52
1597	c	HRD173	Hereditary Late-Onset Parkinson Disease	51
1598		OST011	Osteomalacia	51
1599	c	PRK085	Parkinson Disease 1, Autosomal Dominant	51
1600	c	HYP837	Hypercholesterolemia, Familial, 2	50
1601		MYP100	Myopathy, X-Linked, with Excessive Autophagy	50
1602	P	PRN026	Porencephaly	49
1603	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	49
1604	c	PRK071	Parkinson Disease 14, Autosomal Recessive	48
1605	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	47
1606	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	47
1607	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	47
1608	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	47
1609	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	46
1610	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	46
1611		HYL005	Hyaline Body Myopathy	46
1612	c	LSS010	Lissencephaly 4	46
1613	c	PRK065	Parkinson Disease 20, Early-Onset	45
1614	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	45
1615	c	HYP716	Hypermanganesemia with Dystonia 1	45
1616	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	44
1617	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
1618	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	43
1619	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	43
1620		SPS241	Spastic Paraplegia 35, Autosomal Recessive, with or Without Neurodegeneration	43
1621	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	43
1622	c	PRK052	Parkinson Disease 17	43
1623	c	LSS009	Lissencephaly 3	43
1624	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	42
1625	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	42
1626	c	HYP272	Hypercholesterolemia, Familial, 3	42
1627	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	42
1628	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	42
1629	P	BTR001	Botryoid Rhabdomyosarcoma	42
1630	c	PRK091	Parkinson Disease 4, Autosomal Dominant	41
1631	c	HYP713	Hypermanganesemia with Dystonia 2	41
1632	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	41
1633	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	40
1634	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	40
1635	c	HRS036	Hirschsprung Disease 2	40
1636		MLT016	Multicentric Reticulohistiocytosis	40
1637	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	39
1638		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	39
1639	c	PRK090	Parkinson Disease 3, Autosomal Dominant	39
1640	c	LSS042	Lissencephaly 10	39
1641		ESN015	Eosinophilic Fasciitis	38
1642	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	38
1643		CMB018	Combined Oxidative Phosphorylation Deficiency 7	38
1644	c	ERL056	Early-Onset Parkinson's Disease	38
1645	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	38
1646	c	MSC050	Muscular Dystrophy, Congenital, 1b	37
1647	c	BTH006	Bethlem Myopathy 2	37
1648	c	PRK070	Parkinson Disease 21	35
1649	c	MYP119	Myopathy, Myofibrillar, 7	35
1650		MYP038	Myopathy, Congenital, Compton-North	35
1651	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	35
1652	c	LSS035	Lissencephaly 8	35
1653		TLS001	Tolosa-Hunt Syndrome	34
1654	c	MYP118	Myopathy, Myofibrillar, 8	34
1655	c	CNG557	Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	32
1656	c	JRV002	Jervell and Lange-Nielsen Syndrome 2	32
1657	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	31
1658	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	30
1659		SKL003	Skeletal Muscle Cancer	30
1660	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1661	c	ATM068	Autoimmune Hypoparathyroidism	29
1662		SKL002	Skeletal Muscle Neoplasm	28
1663	P	HYP821	Hypermanganesemia with Dystonia	27
1664	c	PRK083	Parkinson Disease 22, Autosomal Dominant	27
1665	c	CNG551	Congenital Muscular Dystrophy-Dystroglycanopathy A7	27
1666	c	PRK098	Parkinson Disease 5, Autosomal Dominant	27
1667	c	PRK099	Parkinson Disease 18, Autosomal Dominant	26
1668		HRT018	Heart-Hand Syndrome, Slovenian Type	25
1669	c	HRS029	Hirschsprung Disease 4	25
1670	c	MYS084	Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive	25
1671		ORL029	Oral Rhabdomyosarcoma	24
1672	c	HRS034	Hirschsprung Disease 3	24
1673	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
1674	c	PRK096	Parkinson Disease 13, Autosomal Dominant	24
1675	c	JVN058	Juvenile-Onset Parkinson's Disease	24
1676	c	JVN046	Juvenile Polymyositis	23
1677	c	CNG552	Congenital Muscular Dystrophy-Dystroglycanopathy Type A12	22
1678		PLM003	Pulmonary Vein Leiomyosarcoma	22
1679	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
1680	c	CHR715	Charcot-Marie-Tooth Disease, Axonal, Type 2gg	22
1681	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
1682	c	PRK104	Parkinson Disease 24, Autosomal Dominant	21
1683	c	PRK025	Parkinson Disease 10	20
1684	c	PRK058	Parkinson Disease 16	20
1685	c	LSS044	Lissencephaly 6	18
1686	c	CHR731	Charcot-Marie-Tooth Disease, Axonal, Type 2ii	18
1687	c	HRS027	Hirschsprung Disease 5	17
1688	c	PRK022	Parkinson Disease 12	16
1689		KSZ002	Kosztolanyi Syndrome	15
1690	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	14
1691	c	HRS028	Hirschsprung Disease 6	13
1692	c	HRS024	Hirschsprung Disease 9	13
1693	c	HRS026	Hirschsprung Disease 7	13
1694	c	VPS003	Vps35-Related Parkinson Disease	12
1695	c	HRS025	Hirschsprung Disease 8	12
1696	c	ACQ029	Acquired Porencephaly	9
1697	c	CNG555	Congenital Muscular Dystrophy-Dystroglycanopathy Type A13	9
1698	c	CNG549	Congenital Muscular Dystrophy-Dystroglycanopathy Type A9	9
1699	c	CNG548	Congenital Muscular Dystrophy-Dystroglycanopathy Type A8	9
1700	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	8
1701	c	ATS273	Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy	7
1702	c	RRH010	Rare Hypoparathyroidism	6
1703	P	ATS271	Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy	5
1704	P	RRH027	Rare Hypercholesterolemia	5
1705	c	HRD010	Hereditary Spastic Paraplegia	68
1706		CNT099	Contractural Arachnodactyly, Congenital	66
1707	c	MSC165	Muscular Dystrophy, Congenital, Lmna-Related	66
1708		MYP136	Myopathy, Centronuclear, X-Linked	62
1709	c	DVL042	Developmental and Epileptic Encephalopathy 14	62
1710	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	61
1711	c	DVL030	Developmental and Epileptic Encephalopathy 36	61
1712		EPL131	Epilepsy, Pyridoxine-Dependent	61
1713	P	ULL002	Ullrich Congenital Muscular Dystrophy 1	60
1714		INC002	Inclusion Body Myositis	59
1715	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	59
1716		BTT016	Batten-Turner Congenital Myopathy	59
1717	c	DVL033	Developmental and Epileptic Encephalopathy 1	57
1718	P	MYT023	Myotonia Congenita	57
1719	P	URF003	Urofacial Syndrome 1	55
1720	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	55
1721	P	LSS002	Lissencephaly	54
1722	c	DVL038	Developmental and Epileptic Encephalopathy 7	54
1723	c	DVL029	Developmental and Epileptic Encephalopathy 2	53
1724		PRP009	Peripartum Cardiomyopathy	52
1725	c	DVL027	Developmental and Epileptic Encephalopathy 9	52
1726	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
1727	P	DVL113	Developmental and Epileptic Encephalopathy	51
1728	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	50
1729	c	DVL041	Developmental and Epileptic Encephalopathy 13	50
1730	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
1731	c	HRD227	Hereditary Spastic Paraplegia 35	50
1732	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	49
1733	P	SPS133	Spastic Paraplegia 2, X-Linked	49
1734	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	48
1735	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	48
1736	c	NML004	Nemaline Myopathy 3	47
1737	P	NML001	Nemaline Myopathy	47
1738	P	MTC010	Mitochondrial Dna Depletion Syndrome	47
1739	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	47
1740	c	DVL035	Developmental and Epileptic Encephalopathy 4	47
1741		MYP094	Myopathy, Spheroid Body	46
1742		MYP159	Myopathy, Proximal, with Ophthalmoplegia	46
1743	c	DVL118	Developmental and Epileptic Encephalopathy 94	46
1744	c	DVL048	Developmental and Epileptic Encephalopathy 21	45
1745	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	45
1746	c	DVL039	Developmental and Epileptic Encephalopathy 11	45
1747	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	45
1748	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	45
1749	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	45
1750	c	HRD220	Hereditary Spastic Paraplegia 30	45
1751	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	44
1752	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	44
1753		IMM066	Immunodeficiency 9	44
1754	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	44
1755	c	DVL056	Developmental and Epileptic Encephalopathy 30	44
1756	c	DVL068	Developmental and Epileptic Encephalopathy 43	44
1757	c	DVL099	Developmental and Epileptic Encephalopathy 75	43
1758	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	43
1759	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	43
1760	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	43
1761	c	DVL067	Developmental and Epileptic Encephalopathy 42	43
1762	c	DVL044	Developmental and Epileptic Encephalopathy 16	43
1763	c	DVL077	Developmental and Epileptic Encephalopathy 53	42
1764	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	42
1765	c	DVL076	Developmental and Epileptic Encephalopathy 52	42
1766	c	DVL037	Developmental and Epileptic Encephalopathy 5	42
1767	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	42
1768	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	42
1769	c	DVL049	Developmental and Epileptic Encephalopathy 23	42
1770	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	42
1771	c	DVL062	Developmental and Epileptic Encephalopathy 35	42
1772	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	41
1773	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	41
1774	c	DVL072	Developmental and Epileptic Encephalopathy 47	41
1775		PYM001	Pyomyositis	41
1776	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	40
1777	c	DVL100	Developmental and Epileptic Encephalopathy 76	40
1778	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	40
1779	c	DVL045	Developmental and Epileptic Encephalopathy 17	40
1780	c	DVL064	Developmental and Epileptic Encephalopathy 38	40
1781	c	DVL034	Developmental and Epileptic Encephalopathy 3	39
1782	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	39
1783	c	DVL061	Developmental and Epileptic Encephalopathy 34	39
1784	c	DVL098	Developmental and Epileptic Encephalopathy 74	39
1785	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	39
1786	c	DVL052	Developmental and Epileptic Encephalopathy 26	39
1787	c	DVL028	Developmental and Epileptic Encephalopathy 8	39
1788	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	39
1789	c	DVL040	Developmental and Epileptic Encephalopathy 12	39
1790	c	DVL103	Developmental and Epileptic Encephalopathy 80	39
1791		GLM012	Glomuvenous Malformations	38
1792	c	DVL073	Developmental and Epileptic Encephalopathy 48	38
1793	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	38
1794	c	DVL109	Developmental and Epileptic Encephalopathy 87	38
1795	c	DVL060	Developmental and Epileptic Encephalopathy 50	38
1796	c	DVL053	Developmental and Epileptic Encephalopathy 27	38
1797		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	38
1798	c	DVL043	Developmental and Epileptic Encephalopathy 15	38
1799	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	37
1800	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	37
1801	c	DVL055	Developmental and Epileptic Encephalopathy 29	37
1802	c	DVL050	Developmental and Epileptic Encephalopathy 24	37
1803	c	DVL078	Developmental and Epileptic Encephalopathy 54	36
1804	c	DVL079	Developmental and Epileptic Encephalopathy 55	36
1805	c	DVL069	Developmental and Epileptic Encephalopathy 44	36
1806	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	36
1807	c	DVL097	Developmental and Epileptic Encephalopathy 73	36
1808	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	36
1809	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	36
1810	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	35
1811		HML042	Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy	35
1812	c	HRD229	Hereditary Spastic Paraplegia 56	35
1813	c	SPS092	Spastic Paraplegia 11	35
1814	c	DVL054	Developmental and Epileptic Encephalopathy 28	34
1815	c	DVL059	Developmental and Epileptic Encephalopathy 33	34
1816	c	DVL090	Developmental and Epileptic Encephalopathy 66	34
1817	c	DVL057	Developmental and Epileptic Encephalopathy 31	34
1818	P	SPS012	Spastic Paraplegia 3a	34
1819	c	HRD226	Hereditary Spastic Paraplegia 49	33
1820	c	DVL089	Developmental and Epileptic Encephalopathy 65	33
1821	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
1822	c	DVL084	Developmental and Epileptic Encephalopathy 60	33
1823	c	SPS025	Spastic Paraplegia 15	32
1824	c	DVL046	Developmental and Epileptic Encephalopathy 18	32
1825	c	DVL129	Developmental and Epileptic Encephalopathy 25	31
1826	c	SPS243	Spastic Paraplegia 85, Autosomal Recessive	31
1827	c	DVL119	Developmental and Epileptic Encephalopathy 6b	31
1828	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	31
1829	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	31
1830	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	31
1831	c	DVL114	Developmental and Epileptic Encephalopathy 91	31
1832	c	SPS062	Spastic Paraplegia 34, X-Linked	31
1833	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	31
1834	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	30
1835	c	DVL063	Developmental and Epileptic Encephalopathy 37	30
1836	c	DVL107	Developmental and Epileptic Encephalopathy 84	30
1837	c	SPS244	Spastic Paraplegia 86, Autosomal Recessive	30
1838	c	SPS198	Spastic Paraplegia 16, X-Linked	29
1839	c	HRD186	Hereditary Spastic Paraplegia 51	29
1840	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
1841		PRP075	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss	29
1842	c	SPS242	Spastic Paraplegia 84, Autosomal Recessive	29
1843	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
1844	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	29
1845	c	HRD188	Hereditary Spastic Paraplegia 72	29
1846	c	DVL080	Developmental and Epileptic Encephalopathy 56	28
1847	c	DVL058	Developmental and Epileptic Encephalopathy 32	28
1848	c	DVL071	Developmental and Epileptic Encephalopathy 46	28
1849		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	28
1850	c	DVL112	Developmental and Epileptic Encephalopathy 89	28
1851	c	DVL066	Developmental and Epileptic Encephalopathy 41	27
1852	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
1853	c	DVL094	Developmental and Epileptic Encephalopathy 70	27
1854	c	DVL093	Developmental and Epileptic Encephalopathy 69	27
1855	c	DVL120	Developmental and Epileptic Encephalopathy 95	27
1856	c	DVL086	Developmental and Epileptic Encephalopathy 62	27
1857	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
1858	c	DVL074	Developmental and Epileptic Encephalopathy 49	27
1859	c	DVL116	Developmental and Epileptic Encephalopathy 93	27
1860		INT004	Intraneural Perineurioma	27
1861	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
1862	c	DVL047	Developmental and Epileptic Encephalopathy 19	27
1863	c	DVL101	Developmental and Epileptic Encephalopathy 78	27
1864	c	DVL092	Developmental and Epileptic Encephalopathy 68	26
1865	c	DVL091	Developmental and Epileptic Encephalopathy 67	26
1866	c	DVL083	Developmental and Epileptic Encephalopathy 59	26
1867	c	DVL075	Developmental and Epileptic Encephalopathy 51	26
1868	c	DVL104	Developmental and Epileptic Encephalopathy 81	26
1869	c	DVL115	Developmental and Epileptic Encephalopathy 92	26
1870	c	DVL127	Developmental and Epileptic Encephalopathy 98	26
1871	c	DVL128	Developmental and Epileptic Encephalopathy 99	26
1872	c	DVL070	Developmental and Epileptic Encephalopathy 45	26
1873	c	DVL081	Developmental and Epileptic Encephalopathy 57	25
1874	c	DVL106	Developmental and Epileptic Encephalopathy 83	25
1875	c	DVL102	Developmental and Epileptic Encephalopathy 79	25
1876	c	DVL032	Developmental and Epileptic Encephalopathy 90	25
1877	c	DVL131	Developmental and Epileptic Encephalopathy 100	25
1878	c	DVL105	Developmental and Epileptic Encephalopathy 82	25
1879	c	DVL085	Developmental and Epileptic Encephalopathy 61	25
1880	c	DVL087	Developmental and Epileptic Encephalopathy 63	24
1881	c	HRD210	Hereditary Spastic Paraplegia 23	24
1882	c	DVL110	Developmental and Epileptic Encephalopathy 88	24
1883	c	DVL095	Developmental and Epileptic Encephalopathy 71	24
1884	c	DVL065	Developmental and Epileptic Encephalopathy 40	24
1885	c	DVL096	Developmental and Epileptic Encephalopathy 72	24
1886	c	SPS042	Spastic Paraplegia 9	24
1887	c	SPS230	Spastic Paraplegia Type 49	23
1888	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	23
1889	c	DVL082	Developmental and Epileptic Encephalopathy 58	23
1890	c	DVL132	Developmental and Epileptic Encephalopathy 101	22
1891	c	DVL124	Developmental and Epileptic Encephalopathy 97	22
1892	c	URF002	Urofacial Syndrome 2	22
1893	c	DVL121	Developmental and Epileptic Encephalopathy 96	22
1894	c	DVL134	Developmental and Epileptic Encephalopathy 102	22
1895	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	21
1896	c	DVL135	Developmental and Epileptic Encephalopathy 103	21
1897	c	DVL141	Developmental and Epileptic Encephalopathy 106	21
1898	c	DVL108	Developmental and Epileptic Encephalopathy 86	21
1899	c	DVL136	Developmental and Epileptic Encephalopathy 104	20
1900	c	DVL142	Developmental and Epileptic Encephalopathy 107	19
1901	c	SPS246	Spastic Paraplegia 87, Autosomal Recessive	19
1902		RCH003	Richieri Costa Da Silva Syndrome	18
1903	c	SPS248	Spastic Paraplegia 88, Autosomal Dominant	18
1904	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	16
1905	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	15
1906	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	14
1907	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
1908	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	14
1909	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	14
1910		ATS241	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons	14
1911	c	DVL148	Developmental and Epileptic Encephalopathy 108	13
1912	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	13
1913	c	GRN068	Grin2d-Related Developmental and Epileptic Encephalopathy	11
1914	c	DVL151	Developmental and Epileptic Encephalopathy 110	11
1915	c	DVL150	Developmental and Epileptic Encephalopathy 109	10
1916	c	SPS040	Spastic Paraplegia 5b	7
1917		MSC157	Muscular Dystrophy, Duchenne Type	80
1918	P	RHB003	Rhabdomyosarcoma	65
1919		OST024	Osteoporosis-Pseudoglioma Syndrome	60
1920		NNK001	Nonaka Myopathy	59
1921	c	SPN311	Spinocerebellar Ataxia 13	51
1922		MYP086	Myopathy with Extrapyramidal Signs	47
1923	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	45
1924	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	41
1925	c	CRT070	Cortical Dysplasia, Complex, with Other Brain Malformations 1	39
1926	c	CHR697	Charcot-Marie-Tooth Disease X-Linked Recessive 4	37
1927		ART173	Arthrogryposis, Impaired Intellectual Development, and Seizures	35
1928		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	34
1929	c	CRT081	Cortical Dysplasia, Complex, with Other Brain Malformations 7	33
1930	c	CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	33
1931	c	CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	33
1932	c	CNG546	Congenital Muscular Dystrophy-Dystroglycanopathy Type a	31
1933		GRW040	Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy	27
1934	c	CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	26
1935		PRM288	Permanent Molars, Secondary Retention of	26
1936	c	CRT073	Cortical Dysplasia, Complex, with Other Brain Malformations 5	25
1937	c	CRT089	Cortical Dysplasia, Complex, with Other Brain Malformations 10	24
1938	c	CRT071	Cortical Dysplasia, Complex, with Other Brain Malformations 4	23
1939	P	CMP082	Complex Cortical Dysplasia with Other Brain Malformations	22
1940	c	CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	22
1941	c	RHB024	Rhabdomyosarcoma 2	65
1942		KRN002	Kearns-Sayre Syndrome	63
1943	c	EXS019	Exostoses, Multiple, Type I	58
1944	P	HRD001	Hereditary Multiple Exostoses	50
1945	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	46
1946	c	EXS020	Exostoses, Multiple, Type Ii	39
1947		AMN007	Aminoacylase 1 Deficiency	34
1948	c	EXS021	Exostoses, Multiple, Type Iii	20
1949		ALV005	Alveolar Soft Part Sarcoma	54
1950		SCH018	Schizencephaly	48