Rare Diseases Category (12927 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		INC002	Inclusion Body Myositis	64
2		SCH036	Scheie Syndrome	67
3	c	ART119	Arthrogryposis, Distal, Type 5	50
4	c	ART112	Arthrogryposis, Distal, Type 10	29
5	c	ART104	Arthrogryposis, Distal, Type 5d	28
6	c	ART122	Arthrogryposis, Distal, Type 8	25
7	c	ART128	Arthrogryposis, Distal, Type 6	23
8	c	ART131	Arthrogryposis, Distal, Type 4	22
9	c	ART060	Arthrogryposis, Distal, Type 1b	19
10	c	ART054	Arthrogryposis, Distal, Type 2e	16
11		SCH068	Schwartz-Jampel Syndrome, Type 1	54
12	c	MCP050	Mucopolysaccharidosis, Type Ii	67
13	c	MCP049	Mucopolysaccharidosis, Type Vii	65
14	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
15	c	MCP004	Mucopolysaccharidosis Iv	60
16	c	MCP047	Mucopolysaccharidosis, Type Iva	45
17	c	MCP051	Mucopolysaccharidosis, Type Ix	35
18	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
19		IGG007	Igg4-Related Disease	47
20		HMF006	Hemifacial Microsomia	59
21		ABT001	Abetalipoproteinemia	67
22	c	PRG018	Paragangliomas 1	61
23	P	PRG013	Paraganglioma	58
24		JBR006	Joubert Syndrome with Oculorenal Anomalies	44
25	c	NNS018	Nonsyndromic Paraganglioma	28
26	c	PRG094	Paragangliomas 5	19
27		DYT006	Dyt-Tor1a	24
28	P	GLL022	Guillain-Barre Syndrome	64
29	c	ORF040	Orofaciodigital Syndrome Viii	60
30		CRD002	Cri-Du-Chat Syndrome	48
31	c	GLL037	Guillain-Barre Syndrome, Familial	30
32	c	ORF046	Orofaciodigital Syndrome Xvi	27
33	c	ORF051	Orofaciodigital Syndrome Xvii	24
34	c	ORF045	Orofaciodigital Syndrome Xv	23
35	c	ORF052	Orofaciodigital Syndrome Xviii	23
36	c	ORF039	Orofaciodigital Syndrome Vii	14
37	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
38	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	56
39	P	HYP050	Hyperinsulinemic Hypoglycemia	55
40		CHR629	Charcot-Marie-Tooth Disease and Deafness	45
41	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	38
42		CNN003	Conn's Syndrome	73
43		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	46
44	P	ALP004	Alport Syndrome	65
45		NRM019	Neuraminidase Deficiency	61
46	c	ALP105	Alport Syndrome 2, Autosomal Recessive	45
47	c	ALP104	Alport Syndrome 3, Autosomal Dominant	40
48	P	DST002	Distal Arthrogryposis	59
49		FNC009	Fanconi-Bickel Syndrome	54
50		OPS006	Opsoclonus-Myoclonus Syndrome	52
51	P	MRR011	Mirror Movements 1	45
52	c	MRR010	Mirror Movements 2	15
53	c	MRR012	Mirror Movements 3	14
54	c	MRR015	Mirror Movements 4	11
55	c	EPS042	Episodic Ataxia, Type 1	58
56	P	EHL052	Ehlers-Danlos Syndrome, Vascular Type	56
57	c	ATM092	Autoimmune Polyendocrine Syndrome, Type Ii	52
58	P	ATM019	Autoimmune Polyendocrine Syndrome	48
59	P	EPS003	Episodic Ataxia	48
60	c	EPS017	Episodic Ataxia, Type 6	36
61	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
62	c	EPS037	Episodic Ataxia, Type 4	31
63	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
64	c	EPS015	Episodic Ataxia, Type 7	30
65	c	EPS014	Episodic Ataxia, Type 3	23
66	c	EPS033	Episodic Ataxia, Type 8	21
67	c	EPS034	Episodic Ataxia, Type 5	20
68	c	ORF006	Orofaciodigital Syndrome 13	15
69	c	EHL037	Ehlers-Danlos Syndrome, Vascular-Like Type	9
70		CRT072	Creutzfeldt-Jakob Disease	68
71		RBR001	Roberts Syndrome	56
72		CHR635	Chromosome 5q Deletion Syndrome	53
73		WLF002	Wolf-Hirschhorn Syndrome	52
74	c	ATM002	Autoimmune Polyendocrine Syndrome Type 1	48
75	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	45
76		BRK012	Broken Heart Syndrome	39
77		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	35
78	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
79	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	27
80	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	25
81	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	22
82	c	ATS420	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations	21
83	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	17
84		HRD141	Hereditary Proximal Myopathy with Early Respiratory Failure	13
85	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	12
86	c	CWD006	Cowden Syndrome 1	74
87	P	INT143	Interstitial Cystitis	67
88	P	DYS193	Dystonia 11, Myoclonic	56
89		CRN295	Carnitine Palmitoyltransferase I Deficiency	54
90	P	CNG003	Congenital Dyserythropoietic Anemia	42
91	c	CHR020	Chronic Interstitial Cystitis	39
92	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
93	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
94	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	26
95	c	CWD008	Cowden Syndrome 6	25
96	c	CWD004	Cowden Syndrome 5	24
97	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
98	c	CWD009	Cowden Syndrome 7	20
99	c	CWD005	Cowden Syndrome 4	19
100	c	DYS175	Dystonia 26, Myoclonic	18
101	c	DYS058	Dystonia 15, Myoclonic	18
102	c	EPS035	Episodic Ataxia, Type 2	57
103	c	MCP043	Mucopolysaccharidosis, Type Iiia	53
104	c	OPT051	Opitz Gbbb Syndrome, Type I	48
105	P	CHN059	Chondrocalcinosis	47
106	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	45
107	c	OPT050	Opitz Gbbb Syndrome, Type Ii	44
108	P	OPT048	Opitz-Gbbb Syndrome	42
109	c	PGT007	Paget Disease of Bone 3	40
110	P	LYD011	Leydig Cell Hypoplasia	37
111	c	CHN022	Chondrocalcinosis 2	34
112	c	LYD012	Leydig Cell Hypoplasia, Type I	32
113		FBR064	Febrile Infection-Related Epilepsy Syndrome	30
114	c	PGT009	Paget Disease of Bone 2, Early-Onset	26
115	c	ORF041	Orofaciodigital Syndrome X	25
116	c	PGT011	Paget Disease of Bone 6	21
117	c	PGT006	Paget Disease of Bone 4	19
118		PCD002	Pcdh19-Related Female-Limited Epilepsy	17
119	P	ALP009	Alopecia Areata	68
120		LPT001	Leptospirosis	62
121		DGR001	Digeorge Syndrome	62
122	P	CTC001	Catecholaminergic Polymorphic Ventricular Tachycardia	61
123	c	SPN294	Spinocerebellar Ataxia 1	60
124	P	SPN301	Spinocerebellar Ataxia 2	60
125		MLT163	Multiple Pterygium Syndrome, Escobar Variant	55
126	c	SPN265	Spinocerebellar Ataxia 36	43
127	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	42
128	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	39
129	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	38
130	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	35
131	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
132	c	ORF035	Orofaciodigital Syndrome Iv	34
133		MLG120	Malignant Migrating Partial Seizures of Infancy	34
134	c	SPN266	Spinocerebellar Ataxia 35	34
135	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	33
136	c	SPN095	Spinocerebellar Ataxia 19	32
137	c	SPN383	Spinocerebellar Ataxia 42	32
138	c	SPN284	Spinocerebellar Ataxia 38	32
139	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	32
140		MCL079	Macular Telangiectasia Type 2	31
141	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
142	c	ALP039	Alopecia Areata 1	30
143	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
144	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	29
145	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	28
146	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
147	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	27
148	c	SPN372	Spinocerebellar Ataxia 43	26
149	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
150	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
151	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
152	c	SPN418	Spinocerebellar Ataxia 44	25
153	c	SPN421	Spinocerebellar Ataxia 47	24
154	c	SPN323	Spinocerebellar Ataxia 41	23
155	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	23
156	c	SPN420	Spinocerebellar Ataxia 46	23
157	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
158	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	22
159	c	SPN259	Spinocerebellar Ataxia 32	22
160	c	SPN419	Spinocerebellar Ataxia 45	22
161	c	SPN427	Spinocerebellar Ataxia 48	22
162		PRX096	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum	21
163	c	ALP040	Alopecia Areata 2	19
164	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	17
165	c	ATS404	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations	13
166	c	GRD008	Grid2-Related Spinocerebellar Ataxia	11
167	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
168	P	PLM037	Pulmonary Hypertension	77
169	c	PLM164	Pulmonary Hypertension, Primary, 1	71
170		WVR001	Weaver Syndrome	61
171	P	TWN003	Townes-Brocks Syndrome	54
172	P	ERY053	Erythrokeratodermia Variabilis Et Progressiva 1	52
173	c	ORF034	Orofaciodigital Syndrome Vi	48
174	c	TWN011	Townes-Brocks Syndrome 1	31
175	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	28
176	c	PLM127	Pulmonary Hypertension, Primary, 3	26
177	c	PLM128	Pulmonary Hypertension, Primary, 2	24
178	c	TWN010	Townes-Brocks Syndrome 2	22
179	c	ERY054	Erythrokeratodermia Variabilis Et Progressiva 2	20
180	c	ERY055	Erythrokeratodermia Variabilis Et Progressiva 3	19
181	c	ERY056	Erythrokeratodermia Variabilis Et Progressiva 4	18
182	c	PLM169	Pulmonary Hypertension, Primary, Autosomal Recessive	14
183		KRN002	Kearns-Sayre Syndrome	63
184		WLK001	Walker-Warburg Syndrome	60
185		LKN025	Leukoencephalopathy, Hereditary Diffuse, with Spheroids	55
186		DYS192	Dystonia, Dopa-Responsive	52
187	P	THR117	Three M Syndrome 1	51
188		JCB001	Jacobsen Syndrome	49
189		JJN004	Jejunal Atresia	37
190		TRP006	Tarp Syndrome	32
191	c	ORF043	Orofaciodigital Syndrome Ix	29
192	c	CNG418	Congenital Intrauterine Infection-Like Syndrome	27
193	c	ORF033	Orofaciodigital Syndrome V	26
194		ATY012	Atypical Mycobacteriosis, Familial	26
195	c	THR069	Three M Syndrome 2	26
196	c	ORF042	Orofaciodigital Syndrome Xi	24
197	c	THR096	Three M Syndrome 3	24
198	c	ATS419	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations	22
199		SSR001	Ssr4-Cdg	22
200		XLN216	X-Linked Dystonia-Parkinsonism/lubag	20
201		HYP171	Hyperphenylalaninemia Due to Dehydratase Deficiency	19
202	c	ORF005	Orofaciodigital Syndrome 12	14
203		CHR555	Chromosome 3p- Syndrome	14
204		DPM009	Dpm2-Cdg	12
205	P	PRK057	Parkinson Disease, Late-Onset	77
206	P	JBR020	Joubert Syndrome 1	69
207	c	ACT210	Acute Respiratory Distress Syndrome	66
208	P	ADL010	Adult Respiratory Distress Syndrome	64
209	P	CRN038	Carney Complex Variant	62
210	P	INT099	Intrahepatic Cholestasis of Pregnancy	59
211		LKN001	Leukoencephalopathy with Vanishing White Matter	57
212	P	HYP097	Hyperekplexia	57
213	c	SPN291	Spinocerebellar Ataxia 7	53
214	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	53
215	P	TYR004	Tyrosinemia	49
216	c	TYR013	Tyrosinemia, Type Ii	47
217		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	46
218	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	45
219		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	44
220	c	TYR011	Tyrosinemia, Type Iii	44
221		47X002	47,xyy	43
222	c	CHL116	Cholestasis, Intrahepatic, of Pregnancy, 1	42
223	c	MCR263	Microphthalmia, Syndromic 1	41
224	c	JBR024	Joubert Syndrome 14	41
225		BST007	Best Vitelliform Macular Dystrophy	41
226	c	ERL056	Early-Onset Parkinson's Disease	40
227	P	MCR241	Microphthalmia, Syndromic 3	40
228	c	CRN243	Carney Complex, Type 1	40
229		GNT020	Giant Congenital Nevus	39
230	c	JBR015	Joubert Syndrome 6	38
231		SCR037	Sucrase-Isomaltase Deficiency, Congenital	36
232	c	PRK025	Parkinson Disease 10	35
233	c	HRD173	Hereditary Late-Onset Parkinson Disease	34
234	c	PRK085	Parkinson Disease 1, Autosomal Dominant	32
235	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	32
236	c	JBR041	Joubert Syndrome 3	32
237	c	JBR025	Joubert Syndrome 17	31
238	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
239	c	JBR022	Joubert Syndrome 20	30
240	c	JBR012	Joubert Syndrome 5	29
241	c	HYP699	Hyperekplexia 1	29
242	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
243	c	PRK093	Parkinson Disease 8, Autosomal Dominant	28
244	c	JBR014	Joubert Syndrome 9	27
245	c	PRK022	Parkinson Disease 12	26
246	c	JBR026	Joubert Syndrome 15	26
247	c	PRK065	Parkinson Disease 20, Early-Onset	25
248	c	JBR031	Joubert Syndrome 21	25
249	c	JBR016	Joubert Syndrome 10	25
250	c	JBR013	Joubert Syndrome 8	24
251	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
252	c	JBR011	Joubert Syndrome 7	24
253	c	MCR228	Microphthalmia, Syndromic 13	24
254	c	JBR042	Joubert Syndrome 23	23
255	c	PRK052	Parkinson Disease 17	23
256	c	JBR018	Joubert Syndrome 4	23
257	c	JBR030	Joubert Syndrome 22	23
258	c	PRK091	Parkinson Disease 4, Autosomal Dominant	23
259	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
260	c	PRK099	Parkinson Disease 18, Autosomal Dominant	23
261	c	JBR037	Joubert Syndrome 26	22
262	c	PRK070	Parkinson Disease 21	22
263	c	JVN058	Juvenile-Onset Parkinson's Disease	22
264	c	JBR021	Joubert Syndrome 18	22
265	c	JBR035	Joubert Syndrome 24	22
266	c	MCR217	Microphthalmia, Syndromic 11	22
267	c	JBR039	Joubert Syndrome 28	21
268	c	JBR040	Joubert Syndrome 30	21
269	c	JBR043	Joubert Syndrome 32	21
270		BLP010	Blepharophimosis Intellectual Disability Syndromes	21
271	c	HYP510	Hyperekplexia 2	20
272	c	PRK094	Parkinson Disease 11, Autosomal Dominant	20
273	c	JBR045	Joubert Syndrome 33	20
274	c	HYP825	Hyperekplexia 4	19
275	c	JBR036	Joubert Syndrome 25	19
276	c	JBR028	Joubert Syndrome 13	19
277	c	PRK083	Parkinson Disease 22, Autosomal Dominant	19
278	c	JBR044	Joubert Syndrome 31	19
279	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
280	c	JBR038	Joubert Syndrome 27	18
281	c	HYP519	Hyperekplexia 3	18
282	c	LRR001	Lrrk2-Related Parkinson Disease	18
283	c	JBR047	Joubert Syndrome 35	18
284	c	PRK058	Parkinson Disease 16	17
285	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
286	c	CRN298	Carney Complex, Type 2	14
287	c	SPR097	Sporadic Hyperekplexia	13
288	c	ADL080	Adult Acute Respiratory Distress Syndrome	11
289	c	VPS003	Vps35-Related Parkinson Disease	10
290	c	DNG003	Dengue Disease	67
291		LGH007	Leigh Syndrome	66
292		GLC006	Galactosemia	65
293		MSM014	Mismatch Repair Cancer Syndrome	64
294	P	DNG005	Dengue Virus	64
295	P	EPN002	Ependymoma	57
296		CNV004	Canavan Disease	55
297	c	BNG030	Benign Ependymoma	52
298		DRR016	Diarrhea 2, with Microvillus Atrophy	49
299		CHR594	Chromosome 3q29 Deletion Syndrome	46
300		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	46
301	c	MLG064	Malignant Ependymoma	45
302		GRN013	Greenberg Dysplasia	35
303		GGN004	Gigantomastia	27
304	c	MLG023	Malignant Adult Ependymoma	20
305	c	HMP029	Hemophilia a	70
306	c	MCL062	Mucolipidosis Ii Alpha/beta	65
307		PRP083	Porphyria, Acute Intermittent	63
308	c	MCP052	Mucopolysaccharidosis, Type Vi	62
309		PRP001	Propionic Acidemia	61
310		MCR013	Microphthalmia	61
311	P	PRG047	Progressive Familial Intrahepatic Cholestasis	56
312	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	55
313		PPL049	Papillon-Lefevre Syndrome	55
314		MBS002	Moebius Syndrome	54
315		PGM001	Pigmented Villonodular Synovitis	54
316		ESN020	Eosinophilic Granulomatosis with Polyangiitis	54
317		GRS011	Gerstmann-Straussler Disease	54
318		BLL003	Bell's Palsy	53
319	P	SJG002	Sjogren-Larsson Syndrome	52
320	P	MGL001	Megaloblastic Anemia	52
321	c	THN010	Thanatophoric Dysplasia, Type Ii	51
322		RCR004	Recurrent Respiratory Papillomatosis	49
323		PST048	Postural Orthostatic Tachycardia Syndrome	48
324		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	47
325	c	MGL018	Megaloblastic Anemia 1	46
326	P	MCL001	Mucolipidosis	46
327	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	43
328	c	MCL016	Mucolipidosis Iii Gamma	41
329		NCR001	Necrotizing Ulcerative Gingivitis	40
330	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	40
331		CRN106	Corneal Dystrophy, Gelatinous Drop-Like	38
332		TMF001	Tumefactive Multiple Sclerosis	27
333		PLL005	Pallister-Killian Mosaic Syndrome	25
334	c	ORF038	Orofaciodigital Syndrome Iii	25
335	c	XLN229	X-Linked Chondrodysplasia Punctata 2	21
336		XLN215	X-Linked Congenital Generalized Hypertrichosis	19
337	c	XLN227	X-Linked Chondrodysplasia Punctata 1	19
338		CRD019	Cardiocranial Syndrome	12
339		OPH015	Ophn1 Syndrome	12
340	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
341	P	MTC003	Metachromatic Leukodystrophy	71
342	P	AMY004	Amyloidosis	69
343	P	CWD010	Cowden Syndrome	69
344		PRT036	Peritonitis	67
345	c	GLY008	Glycogen Storage Disease Ii	67
346		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	65
347	P	MCH002	Machado-Joseph Disease	64
348		HLT001	Holt-Oram Syndrome	63
349	c	GLY060	Glycogen Storage Disease Ia	62
350	P	GLY013	Glycogen Storage Disease	62
351	P	HYP724	Hyperlipoproteinemia, Type Iii	61
352		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	60
353	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
354	c	ALM001	Al Amyloidosis	60
355		CNT105	Central Core Disease of Muscle	58
356		FLR001	Filarial Elephantiasis	53
357		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	51
358	c	HYP740	Hyperlipoproteinemia, Type V	51
359	P	NML001	Nemaline Myopathy	48
360	c	NML002	Nemaline Myopathy 1	48
361		GLC011	Galactose Epimerase Deficiency	48
362	P	MYF003	Myofibrillar Myopathy	47
363	c	MYP078	Myopathy, Myofibrillar, 3	46
364	c	NML003	Nemaline Myopathy 2	46
365	c	MYP072	Myopathy, Myofibrillar, 1	46
366	c	HYP768	Hyperlipoproteinemia, Type I	42
367	c	ART146	Arthrogryposis, Distal, Type 9	41
368	c	NML004	Nemaline Myopathy 3	41
369	c	GLY098	Glycogen Storage Disease, Type Ixd	40
370	c	MYP082	Myopathy, Myofibrillar, 2	39
371	c	GLY023	Glycogen Storage Disease Type 0	39
372	c	NML005	Nemaline Myopathy 4	38
373		CHR174	Christianson Syndrome	38
374	c	GLY044	Glycogen Storage Disease Ixc	38
375		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	34
376		3BT001	3-Beta-Hydroxysteroid Dehydrogenase Deficiency	34
377		VRT007	Vertical Talus, Congenital	33
378	c	MYP079	Myopathy, Myofibrillar, 5	33
379	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	33
380		MHR002	Mohr Syndrome	32
381	c	SCP012	Scapuloperoneal Myopathy, Myh7-Related	32
382	c	PRV019	Periventricular Nodular Heterotopia 1	31
383	c	MYP080	Myopathy, Myofibrillar, 4	30
384	c	GLY097	Glycogen Storage Disease Ixb	29
385	c	MTC074	Metachromatic Leukodystrophy, Adult Form	29
386	c	MYP081	Myopathy, Myofibrillar, 6	29
387	c	GLY017	Glycogen Storage Disease Ic	29
388	c	GLY009	Glycogen Storage Disease Xv	29
389	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
390	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
391	c	GLY057	Glycogen Storage Disease X	28
392		MLL009	Mullerian Aplasia	27
393	P	SCP010	Scapuloperoneal Myopathy	27
394		STB002	Satb2-Associated Syndrome	26
395		CHR524	Chromosome 16p13.3 Duplication Syndrome	26
396	c	NML022	Nemaline Myopathy 10	24
397		CNG114	Congenital Myasthenic Syndrome with Episodic Apnea	24
398		ISD002	Isodicentric Chromosome 15 Syndrome	24
399	c	MYP119	Myopathy, Myofibrillar, 7	24
400	c	NML007	Nemaline Myopathy 6	23
401	c	GLY001	Glycogen Storage Disease Ix	23
402	c	MYP118	Myopathy, Myofibrillar, 8	22
403	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	22
404	c	NML010	Nemaline Myopathy 7	21
405	c	PRV018	Periventricular Nodular Heterotopia 7	21
406	c	NML025	Nemaline Myopathy 8	21
407	c	NML021	Nemaline Myopathy 9	20
408		2MT001	2-Methyl-3-Hydroxybutyric Aciduria	19
409	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	19
410	c	PRM150	Primary Localized Amyloidosis	19
411	c	PRV016	Periventricular Nodular Heterotopia 6	19
412	c	MCH013	Machado-Joseph Disease Type 3	19
413	c	HYP819	Hyperlipoproteinemia, Type Id	19
414	c	MCH012	Machado-Joseph Disease Type 1	19
415	c	MCH014	Machado-Joseph Disease Type 2	19
416	c	AHM002	Ah Amyloidosis	17
417	c	GLY093	Glycogen Storage Disease Ixa	16
418	c	PRV021	Periventricular Nodular Heterotopia 8	15
419	c	PRV013	Periventricular Nodular Heterotopia 3	12
420	P	ACR001	Aicardi-Goutieres Syndrome	63
421	c	ACR116	Aicardi-Goutieres Syndrome 1	48
422		PST049	Postaxial Acrofacial Dysostosis	46
423		BLC001	Blue Cone Monochromacy	45
424		BZX001	Bazex Syndrome	45
425	P	DNT009	Dentin Dysplasia	39
426	c	DNT027	Dentin Dysplasia, Type Ii	38
427		CRY032	Carey-Fineman-Ziter Syndrome	37
428		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	31
429	c	ACR081	Aicardi-Goutieres Syndrome 6	30
430	c	ACR084	Aicardi-Goutieres Syndrome 7	26
431		TKY002	Takayasu Arteritis	67
432	P	CRB048	Cerebral Cavernous Malformations	65
433	P	CRD132	Cardiac Conduction Defect	64
434		FCT002	Factor Xi Deficiency	63
435		BLS001	Blau Syndrome	61
436	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	59
437		DNT005	Dentatorubral-Pallidoluysian Atrophy	54
438	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
439	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	53
440	c	ALB020	Albinism, Oculocutaneous, Type Iii	50
441		HRP009	Herpes Simplex Encephalitis	50
442	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	50
443		LCH011	Lichen Planopilaris	50
444	c	CRB191	Cerebral Cavernous Malformations 2	49
445	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
446	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
447		RSS026	Roussy-Levy Hereditary Areflexic Dystasia	48
448	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
449	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
450	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	46
451	c	PNC128	Pain - Chronic	46
452	c	ALB015	Albinism, Oculocutaneous, Type V	46
453	c	ART061	Arthrogryposis, Distal, Type 2a	45
454	P	BRC015	Bruck Syndrome	44
455	P	OTS002	Otospondylomegaepiphyseal Dysplasia	44
456		TTZ003	Tietz Albinism-Deafness Syndrome	44
457		KDS001	Kid Syndrome	44
458	c	HYP794	Hyperoxaluria, Primary, Type I	43
459	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	43
460	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	43
461	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
462	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
463	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
464	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
465	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
466	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
467	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	40
468	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	40
469	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	40
470	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	40
471	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
472	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
473	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
474	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	38
475	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
476	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	38
477	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	38
478	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	38
479	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	38
480	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	38
481	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	37
482	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
483	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
484	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	37
485	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	36
486	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	36
487	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	36
488	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	36
489	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
490	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	36
491	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
492	c	CRB094	Cerebral Cavernous Malformations 3	36
493		PLR023	Polr3-Related Leukodystrophy	36
494	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
495	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	35
496	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	35
497	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	35
498	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	35
499	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
500	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
501	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
502	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
503	c	SPN101	Spinocerebellar Ataxia 29	34
504	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
505	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	33
506	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	33
507	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
508	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
509	c	CNG195	Congenital Disorder of Glycosylation, Type Id	32
510	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
511	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
512	c	FML250	Familial Progressive Cardiac Conduction Defect	31
513	P	SPS012	Spastic Paraplegia 3a	31
514		CNG064	Congenital Chloride Diarrhea	31
515	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	31
516	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
517	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
518	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
519	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
520	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
521		PLM049	Plummer Vinson Syndrome	30
522	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
523	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
524	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
525	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
526	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
527	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
528	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	29
529		FRS007	Frias Syndrome	29
530	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
531	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	29
532	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	28
533	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	28
534		PHS010	Phosphoglycerate Mutase Deficiency	28
535	c	BRC047	Bruck Syndrome 1	28
536	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
537	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	28
538	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
539	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	28
540	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
541	c	CNT068	Central Pain Syndrome	28
542	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	28
543	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
544	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
545		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	27
546	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	27
547	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
548	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
549	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	27
550	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
551	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
552		GNT018	Gianotti Crosti Syndrome	26
553	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
554	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	26
555	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
556	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
557	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
558	c	HRD186	Hereditary Spastic Paraplegia 51	26
559	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
560	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
561	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
562	c	CRB051	Cerebral Cavernous Malformation, Familial	25
563	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	25
564		NVD003	Nevoid Hypermelanosis, Linear and Whorled	24
565	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	24
566		NCR015	Necrotizing Autoimmune Myopathy	24
567	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	24
568		PLM069	Pulmonary Venous Return Anomaly	23
569	c	SPS020	Spastic Paraplegia 1	22
570	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	21
571		MYC001	Myoclonic Cerebellar Dyssynergia	21
572	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	19
573	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	19
574	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
575		DND017	Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures	18
576	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
577	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
578		ATS309	Autosomal Dominant Leukodystrophy with Autonomic Disease	18
579		ERL033	Early-Onset Parkinsonism-Intellectual Disability Syndrome	18
580	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	18
581		SCT004	Scott Bryant Graham Syndrome	17
582	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
583	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
584	c	HRD188	Hereditary Spastic Paraplegia 72	16
585		MCR265	Macrozoospermia	16
586		CHR554	Chromosome 17q11.2 Deletion Syndrome	13
587	c	SPS230	Spastic Paraplegia Type 49	12
588	c	SPS165	Spastic Paraplegia 47	11
589		CDC005	Cad-Cdg	7
590		CRH001	Crohn's Disease	79
591	c	HRD010	Hereditary Spastic Paraplegia	69
592	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	67
593		STF001	Stiff-Person Syndrome	64
594		MST024	Mastocytosis, Cutaneous	64
595	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	60
596		ACR008	Acrocallosal Syndrome	60
597	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	59
598	P	MLT074	Multiple Endocrine Neoplasia	56
599		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	56
600	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	55
601	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	54
602	P	NLD001	Nail Disease	54
603	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	53
604	P	ADM011	Adams-Oliver Syndrome	53
605	P	AMY084	Amyloidosis, Finnish Type	52
606	P	FML035	Familial Hyperlipidemia	50
607	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	49
608		ADN001	Adenosine Deaminase Deficiency	48
609	P	ANT088	Anterior Segment Dysgenesis	48
610		TLR001	Tularemia	48
611		CRY001	Cryptogenic Organizing Pneumonia	47
612	P	BLP047	Blepharocheilodontic Syndrome 1	44
613	c	ANT077	Anterior Segment Dysgenesis 1	43
614	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	41
615		KKC001	Kikuchi Disease	40
616	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	39
617	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	39
618	c	MLG147	Malignant Hyperthermia 1	39
619		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	36
620		CHL109	Childhood Apraxia of Speech	36
621		CRN141	Corneal Dystrophy, Reis-Bucklers Type	36
622		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	36
623		ATX019	Ataxia with Vitamin E Deficiency	34
624	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	34
625	c	EHL081	Ehlers-Danlos Syndrome, Classic-Like	33
626		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	32
627		DTH005	Diethylstilbestrol Syndrome	32
628	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	31
629	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
630	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
631	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	30
632	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
633		PNT003	Pinta Disease	29
634	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	28
635	c	ANT084	Anterior Segment Dysgenesis 3	28
636	c	ADM007	Adams-Oliver Syndrome 2	27
637		MNT006	Manitoba Oculotrichoanal Syndrome	27
638	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
639	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
640	c	ANT085	Anterior Segment Dysgenesis 5	25
641	c	ANT083	Anterior Segment Dysgenesis 7	25
642	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	24
643	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	24
644	c	FML249	Familial Amyloidosis, Finnish Type	24
645	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	24
646	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
647		ART037	Arthrogryposis and Ectodermal Dysplasia	24
648	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	23
649		7Q1002	7q11.23 Duplication Syndrome	23
650		IMM096	Immunodeficiency 30	22
651	c	HYP163	Hyperlipidemia Type 3	22
652	c	ADM008	Adams-Oliver Syndrome 3	21
653	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
654	c	BLP049	Blepharocheilodontic Syndrome 2	19
655	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	19
656	c	ANT087	Anterior Segment Dysgenesis 6	18
657	c	ANT067	Anterior Segment Dysgenesis 8	18
658	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	17
659		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	17
660	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	16
661	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	13
662		FBX003	Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	12
663	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
664		MTH067	Methylmalonic Acidemia with Homocystinuria Type Cblj	9
665	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	7
666		DSM004	Desmoid Tumor	65
667	P	CMR001	Camurati-Engelmann Disease	62
668	P	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	58
669		ARS001	Aarskog-Scott Syndrome	57
670	c	MCR256	Microphthalmia, Syndromic 9	52
671	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	51
672	P	PLM006	Pulmonary Alveolar Proteinosis	50
673	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
674		DYS022	Dyschromatosis Symmetrica Hereditaria	50
675	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	49
676	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	47
677	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	40
678		GRD009	Gordon Holmes Syndrome	39
679	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	37
680	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
681		CHN057	Chondrodysplasia, Grebe Type	35
682	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	35
683		ISC016	Ischiocoxopodopatellar Syndrome	35
684		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	33
685		TTR005	Tetrahydrobiopterin Deficiency	33
686	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	32
687		SLT005	Solitary Median Maxillary Central Incisor	31
688	c	MCR245	Microphthalmia, Syndromic 8	28
689	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	21
690	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	17
691	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	16
692		INS024	Insulin-Like Growth Factor I	83
693	P	AGM019	Agammaglobulinemia, X-Linked	73
694	c	NMN015	Niemann-Pick Disease, Type C1	68
695		SND001	Sandhoff Disease	66
696	P	KLL001	Kallmann Syndrome	64
697		WLF001	Wolff-Parkinson-White Syndrome	63
698		BLM001	Bloom Syndrome	63
699	P	TRC086	Trichohepatoenteric Syndrome 1	61
700		CHK001	Chikungunya	61
701		WST001	West Syndrome	60
702	c	USH036	Usher Syndrome, Type I	60
703	c	MYT020	Myotonic Dystrophy 2	59
704	c	NMN016	Niemann-Pick Disease, Type B	59
705		ICH054	Ichthyosis, X-Linked	58
706		ALK013	Alkaptonuria	58
707		RHB001	Rhabdoid Cancer	58
708	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	55
709	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
710		BRT002	Birt-Hogg-Dube Syndrome	54
711		LKC005	Leukocyte Adhesion Deficiency, Type Iii	54
712		HYP691	Hypomelanosis of Ito	54
713		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
714	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
715		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	52
716	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
717		MLT113	Multicentric Castleman Disease	52
718		GLC004	Galactokinase Deficiency	51
719		FSH001	Fish-Eye Disease	51
720	c	ART144	Arthrogryposis, Distal, Type 1a	50
721	P	NMN002	Niemann-Pick Disease	50
722	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
723		BRD025	Birdshot Chorioretinopathy	49
724	P	PRX021	Proximal Symphalangism	49
725		UNV001	Unverricht-Lundborg Syndrome	48
726		KRT010	Kartagener Syndrome	48
727		HPT025	Hepatic Lipase Deficiency	47
728	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	47
729	c	USH035	Usher Syndrome Type 2	47
730	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	46
731	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
732	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	46
733	P	MLT072	Multiple Synostoses Syndrome	46
734	c	USH021	Usher Syndrome, Type Iid	46
735		PST020	Postpoliomyelitis Syndrome	45
736		HTR003	Heterotaxy	44
737	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
738	P	PRM001	Primary Cutaneous Amyloidosis	44
739	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	41
740	c	USH040	Usher Syndrome, Type Id	40
741		STV003	Stuve-Wiedemann Syndrome	40
742	c	USH020	Usher Syndrome, Type Iic	40
743		PRM057	Paramyotonia Congenita of Von Eulenburg	39
744		CRN247	Corneal Dystrophy, Thiel-Behnke Type	38
745	P	KLN006	Koolen-De Vries Syndrome	38
746	c	USH039	Usher Syndrome, Type Ic	38
747	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	38
748	c	ANT071	Anterior Segment Dysgenesis 4	37
749	c	USH041	Usher Syndrome, Type if	36
750	c	USH042	Usher Syndrome, Type Ig	36
751		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	35
752	c	TRC078	Trichohepatoenteric Syndrome 2	35
753	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
754	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	34
755	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	33
756	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	33
757		OCL034	Oculocerebrocutaneous Syndrome	32
758	c	MCR251	Microphthalmia, Syndromic 6	31
759	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	31
760	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	31
761	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
762		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	31
763	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	30
764	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
765		RCH002	Richards-Rundle Syndrome	30
766		BP1002	Bap1 Tumor Predisposition Syndrome	29
767	c	USH031	Usher Syndrome, Type Ij	29
768	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	29
769	c	CNG133	Congenital Varicella Syndrome	29
770	c	SYM022	Symphalangism, Proximal, 1a	29
771	c	USH030	Usher Syndrome, Type Ik	29
772	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	28
773	P	PRD037	Periodontal Ehlers-Danlos Syndrome	28
774	c	MLT059	Multiple Synostoses Syndrome 1	28
775	c	GLY043	Glycogen Storage Disease Xii	28
776	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	27
777	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
778	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
779		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	26
780	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	26
781	c	USH044	Usher Syndrome, Type Iiib	26
782		HYP180	Hypertrichosis Lanuginosa Congenita	26
783	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
784	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
785		GRD004	Gardner-Diamond Syndrome	24
786	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	23
787	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	23
788	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	23
789	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	23
790	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
791	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	22
792		SHP004	Shprintzen Omphalocele Syndrome	22
793	c	MLT078	Multiple Synostoses Syndrome 3	22
794		XLN162	X-Linked Intellectual Disability, Najm Type	22
795		LMB014	Limb-Body Wall Complex	22
796	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
797		CHR416	Chromosome 17q Deletion	19
798		ACT160	Actinic Lichen Planus	19
799	c	USH043	Usher Syndrome, Type Ih	19
800	c	USH045	Usher Syndrome, Type Iv	18
801	c	SYM019	Symphalangism, Proximal, 1b	17
802	c	MLT166	Multiple Synostoses Syndrome 4	17
803	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	16
804		17Q011	17q12 Duplication	15
805	P	MTC014	Mitochondrial Dna Deletion Syndromes	13
806		NBD001	Nbia/dyt/park-Pla2g6	11
807	c	USH011	Usher Syndrome, Type 2b	10
808		PGM026	Pgm3-Cdg	10
809	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	9
810	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	9
811	P	VRC007	Varicella, Severe Recurrent	8
812	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
813	c	MYT021	Myotonic Dystrophy 1	72
814		HSH003	Hashimoto Thyroiditis	67
815	P	HYD006	Hydrocephalus	66
816	P	LBR001	Leber Congenital Amaurosis	64
817		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	64
818	c	CNR004	Cone-Rod Dystrophy 2	63
819		ERY003	Erythema Multiforme	63
820		PTT048	Pituitary Adenoma, Prolactin-Secreting	62
821	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	60
822	P	MLG056	Malignant Hyperthermia	60
823	P	FCL005	Focal Segmental Glomerulosclerosis	60
824	P	PLY006	Polydactyly	58
825	P	ANG015	Angioedema	58
826	c	HRD002	Hereditary Angioedema	57
827	c	ANG068	Angioedema, Hereditary, Type I	57
828		CLS005	Clouston Syndrome	55
829		CTR172	Citrullinemia, Classic	55
830	c	GLY004	Glycogen Storage Disease V	55
831	c	LBR014	Leber Congenital Amaurosis 4	55
832		NLP001	Nail-Patella Syndrome	54
833	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
834	P	ACQ022	Acquired Generalized Lipodystrophy	54
835		CRN239	Carnitine Deficiency, Systemic Primary	54
836	c	LYS021	Loeys-Dietz Syndrome 3	53
837		FTL009	Fetal Akinesia Deformation Sequence	53
838	c	WRD033	Waardenburg Syndrome, Type 2e	53
839	c	ALB021	Albinism, Oculocutaneous, Type Ii	53
840		BTY001	Butyrylcholinesterase Deficiency	52
841	c	FBR084	Fibromatosis, Gingival, 1	52
842	c	CNG012	Congenital Generalized Lipodystrophy	52
843	c	FCL025	Focal Segmental Glomerulosclerosis 1	52
844	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	51
845	P	GNG025	Gingival Fibromatosis	50
846	c	ALZ056	Alzheimer Disease 3	49
847	c	CHR037	Chronic Eosinophilic Pneumonia	49
848		BLS007	Blastic Plasmacytoid Dendritic Cell	48
849	P	NNT009	Neonatal Diabetes Mellitus	48
850		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	48
851	c	ALZ054	Alzheimer Disease 4	47
852	c	WRD020	Waardenburg Syndrome, Type 4a	47
853	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
854	c	ALZ050	Alzheimer Disease 5	46
855		OST022	Osteopathia Striata with Cranial Sclerosis	46
856	c	WRD019	Waardenburg Syndrome, Type 4b	45
857	c	WRD031	Waardenburg Syndrome, Type 3	45
858	c	LBR004	Leber Congenital Amaurosis 1	44
859	c	TRN032	Transient Neonatal Diabetes Mellitus	44
860	c	MCL066	Macular Dystrophy, Vitelliform, 2	44
861	P	VTL001	Vitelliform Macular Dystrophy	43
862	P	BLN001	Blount's Disease	42
863	c	HYD064	Hydrocephalus, Congenital, 1	40
864		MTH078	Methylmalonic Aciduria, Cblb Type	40
865		TRP009	Triple X Syndrome	40
866	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	40
867	c	LBR019	Leber Congenital Amaurosis 9	40
868		GNC003	Geniculate Herpes Zoster	40
869	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	40
870		DNS007	Dense Deposit Disease	39
871	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	39
872	c	MCL060	Macular Dystrophy, Vitelliform, 3	38
873		RSP007	Respiratory Distress Syndrome, Infant	38
874	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	38
875		DFF021	Diffuse Mesangial Sclerosis	37
876	c	CNR023	Cone-Rod Dystrophy 8	37
877	c	LBR012	Leber Congenital Amaurosis 2	37
878	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
879	c	CNR017	Cone-Rod Dystrophy 9	37
880		CRN237	Corneal Dystrophy, Avellino Type	37
881	c	CNR016	Cone-Rod Dystrophy 7	37
882	c	WRD024	Waardenburg Syndrome, Type 4c	37
883		PHC004	Phace Syndrome	36
884	c	BRT038	Baraitser-Winter Syndrome 1	36
885	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	35
886		SPS016	Spasmodic Dysphonia	35
887	c	LBR007	Leber Congenital Amaurosis 12	35
888	P	PRS013	Prosopagnosia	35
889	P	BRT040	Baraitser-Winter Syndrome	34
890	c	LBR011	Leber Congenital Amaurosis 16	34
891	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	34
892	c	ALZ063	Alzheimer's Disease 1	34
893	c	CNR014	Cone-Rod Dystrophy 16	33
894	c	WRD010	Waardenburg Syndrome Type 4	33
895	c	LBR005	Leber Congenital Amaurosis 10	33
896		ATM061	Autoimmune Polyglandular Syndrome Type 3	33
897		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	32
898		DSS025	Dissociative Seizures	32
899	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	32
900	c	CNR013	Cone-Rod Dystrophy 12	31
901	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	31
902	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
903	c	LBR018	Leber Congenital Amaurosis 8	31
904	c	LBR016	Leber Congenital Amaurosis 6	31
905	c	LBR013	Leber Congenital Amaurosis 3	30
906		GMZ002	Gomez-Lopez-Hernandez Syndrome	30
907		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	30
908		MTH077	Methylmalonic Aciduria, Cbla Type	30
909	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	29
910	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	29
911	c	SPS092	Spastic Paraplegia 11	28
912	c	BRT039	Baraitser-Winter Syndrome 2	28
913		CHR209	Chromosome 17p Duplication	28
914	c	LBR015	Leber Congenital Amaurosis 5	27
915	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	27
916		WGN003	Wagner Syndrome	27
917	c	PRG021	Paragangliomas 4	27
918	c	LBR009	Leber Congenital Amaurosis 14	27
919	c	ALZ012	Alzheimer Disease 12	27
920		CHR523	Chromosome 15q11.2 Deletion Syndrome	27
921	c	ANG045	Angioedema, Hereditary, Type Iii	27
922	c	ALZ016	Alzheimer Disease 8	26
923		ADN077	Adenosine Deaminase 2 Deficiency	26
924	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
925	c	ALZ053	Alzheimer Disease 7	25
926	c	CHR026	Charcot-Marie-Tooth Disease Type X	24
927	c	LBR008	Leber Congenital Amaurosis 13	24
928	c	ALZ045	Alzheimer Disease 9	24
929	c	ALZ015	Alzheimer Disease 6	24
930		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	24
931	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	24
932	c	FCL043	Focal Segmental Glomerulosclerosis 6	23
933	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	23
934		GLT014	Glutathionuria	23
935	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	23
936	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	23
937	c	WRD022	Waardenburg Syndrome, Type 2d	23
938	c	LBR010	Leber Congenital Amaurosis 15	23
939	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
940	c	CNR032	Cone-Rod Dystrophy 21	23
941	c	ALZ062	Alzheimer Disease 19	22
942	c	ICH014	Ichthyosis Lamellar 1	22
943	c	CNR026	Cone-Rod Dystrophy 18	22
944	c	CNR021	Cone-Rod Dystrophy 10	22
945	c	CNR027	Cone-Rod Dystrophy 17	22
946	c	PRS058	Prosopagnosia, Hereditary	22
947	c	LBR029	Leber Congenital Amaurosis 17	22
948	c	CNR012	Cone-Rod Dystrophy 11	22
949	c	CNR025	Cone-Rod Dystrophy 15	22
950	c	CNR024	Cone-Rod Dystrophy 13	21
951	c	FCL082	Focal Segmental Glomerulosclerosis 4	21
952	c	ALZ057	Alzheimer Disease 10	21
953	c	CNR030	Cone-Rod Dystrophy 20	21
954	c	ALZ058	Alzheimer Disease 11	21
955		CMP017	Camptocormism	20
956		CDK006	Cdkl5 Deficiency Disorder	20
957	c	FCL027	Focal Segmental Glomerulosclerosis 3	20
958	c	FCL026	Focal Segmental Glomerulosclerosis 2	19
959	c	LBR006	Leber Congenital Amaurosis 11	19
960	c	FCL085	Focal Segmental Glomerulosclerosis 7	19
961		5Q1001	5q14.3 Microdeletion Syndrome	19
962	c	HYD042	Hydrocephalus, Autosomal Dominant	19
963	c	MCL061	Macular Dystrophy, Vitelliform, 4	19
964	c	LBR017	Leber Congenital Amaurosis 7	19
965	c	ALZ061	Alzheimer Disease 15	19
966	c	FCL028	Focal Segmental Glomerulosclerosis 5	19
967	c	FCL053	Focal Segmental Glomerulosclerosis 8	19
968	c	WRD026	Waardenburg Syndrome, Type 2c	18
969	c	MCL056	Macular Dystrophy, Vitelliform, 5	18
970	c	FCL055	Focal Segmental Glomerulosclerosis 9	18
971	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
972	c	ALZ032	Alzheimer Disease 18	18
973		OMP007	Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex	18
974	c	CNR029	Cone-Rod Dystrophy 19	18
975	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	18
976	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	17
977	c	ALZ059	Alzheimer Disease 13	17
978	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
979	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	16
980	c	CNT108	Central Polydactyly	15
981	c	ALZ031	Alzheimer Disease 17	15
982	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
983	c	FBR092	Fibromatosis, Gingival, 5	15
984	c	ALZ014	Alzheimer Disease 16	15
985	c	BLN020	Blount Disease, Infantile	15
986	c	ALZ060	Alzheimer Disease 14	15
987	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
988		ALM003	Aluminosis	14
989	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	14
990	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	14
991	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	13
992	c	CHR571	Charcot-Marie-Tooth Disease Type 5	12
993	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
994	c	ACQ036	Acquired Angioedema Type 2	12
995		SCN063	Scn2a Related Disorders	11
996	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
997	c	PMP012	Pmp2-Related Charcot-Marie-Tooth Disease Type 1	11
998	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
999	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
1000	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
1001	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
1002	c	ACQ035	Acquired Angioedema Type 1	9
1003	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
1004		NFK002	Nf-Kappa B Essential Modulator Deficiency	7
1005		CNT097	Central Hypoventilation Syndrome, Congenital	67
1006		AND019	Andersen Cardiodysrhythmic Periodic Paralysis	63
1007	c	GLY003	Glycogen Storage Disease Iii	62
1008	P	ACH003	Achromatopsia	57
1009		MCK005	Mckusick-Kaufman Syndrome	54
1010		DNY001	Denys-Drash Syndrome	53
1011	c	LSS005	Lissencephaly 1	52
1012		VPM001	Vipoma	52
1013		FRY006	Fryns Microphthalmia Syndrome	51
1014		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	50
1015		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	49
1016		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	47
1017		KMR001	Kimura Disease	47
1018	c	LKD010	Leukodystrophy, Hypomyelinating, 2	44
1019	c	LKD019	Leukodystrophy, Hypomyelinating, 6	44
1020		GLC022	Glucose/galactose Malabsorption	44
1021		LPM010	Lipomatosis, Multiple Symmetric	43
1022		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	43
1023	c	MCR261	Microphthalmia, Syndromic 2	41
1024	c	ACH020	Achromatopsia 2	40
1025		ALV006	Alveolar Capillary Dysplasia	39
1026	P	MRN003	Marinesco-Sjogren Syndrome	39
1027		LRN006	Laurin-Sandrow Syndrome	38
1028		MLG141	Malignant Atrophic Papulosis	37
1029	c	LKD008	Leukodystrophy, Hypomyelinating, 4	36
1030		INT088	Intrinsic Factor Deficiency	36
1031		BJR001	Bjornstad Syndrome	34
1032	c	DNT051	Dentin Dysplasia, Type I	33
1033	c	ACH023	Achromatopsia 4	32
1034		SCL022	Scleredema	31
1035	P	HYP700	Hypomyelinating Leukodystrophy	31
1036		MSM016	Mesomelic Dysplasia, Kantaputra Type	29
1037	c	LSS010	Lissencephaly 4	29
1038		BLN004	Balantidiasis	27
1039		BLP041	Blepharochalasis and Double Lip	26
1040	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
1041	c	LKD022	Leukodystrophy, Hypomyelinating, 13	26
1042		PRF003	Piriformis Syndrome	26
1043		SHP003	Shapiro Syndrome	25
1044	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
1045	c	LKD030	Leukodystrophy, Hypomyelinating, 17	24
1046	c	LSS025	Lissencephaly 5	24
1047	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
1048	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
1049	c	APR009	Aprosencephaly Syndrome	22
1050	c	LSS035	Lissencephaly 8	22
1051	c	LSS009	Lissencephaly 3	22
1052	c	LKD028	Leukodystrophy, Hypomyelinating, 15	22
1053	c	ACH038	Achromatopsia 7	22
1054	c	LKD027	Leukodystrophy, Hypomyelinating, 14	21
1055	c	LKD029	Leukodystrophy, Hypomyelinating, 16	21
1056		MND006	Mondor Disease	19
1057	P	XKP001	Xk Aprosencephaly	15
1058	c	HMC039	Hemochromatosis, Type 1	74
1059		ACR006	Aceruloplasminemia	72
1060		BRC012	Brucellosis	71
1061		ANG054	Angina Pectoris	70
1062	P	TMP003	Temporal Arteritis	68
1063	P	FRD012	Friedreich Ataxia 1	67
1064		NRL005	Neurilemmoma	66
1065		BLL006	Bullous Pemphigoid	65
1066	P	HML002	Hemolytic Anemia	65
1067		MNK001	Menkes Disease	65
1068	c	MCP001	Mucopolysaccharidosis Iii	63
1069	P	EPL140	Epilepsy, Idiopathic Generalized	62
1070	c	EPL209	Epilepsy, Idiopathic Generalized 10	61
1071	c	ANM038	Anemia, Autoimmune Hemolytic	61
1072		BRG013	Buerger Disease	61
1073		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
1074	P	NRC002	Narcolepsy	59
1075	P	USH001	Usher Syndrome	59
1076		LMB002	Lambert-Eaton Myasthenic Syndrome	58
1077		DBN001	Dubin-Johnson Syndrome	58
1078		ALS001	Alstrom Syndrome	55
1079		ODN023	Odontochondrodysplasia	53
1080	c	NRC009	Narcolepsy 1	51
1081		SHH001	Sheehan Syndrome	51
1082		LMR001	Lemierre's Syndrome	49
1083		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	48
1084		OPT054	Opitz-Kaveggia Syndrome	48
1085		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	48
1086		ENC055	Encephalopathy, Ethylmalonic	47
1087	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	47
1088		MDL009	Medullary Sponge Kidney	47
1089		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	47
1090	c	HMC035	Hemochromatosis, Type 4	46
1091	P	PSD003	Pseudohypoaldosteronism	46
1092		PRX015	Paroxysmal Extreme Pain Disorder	46
1093		ACT055	Actinomycosis	45
1094	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	45
1095		ACR013	Acrodysostosis	45
1096		DNR002	Duane-Radial Ray Syndrome	45
1097		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	45
1098	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1099		ALP077	Alpha-Methylacetoacetic Aciduria	44
1100		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	44
1101	P	JVN024	Juvenile Hereditary Hemochromatosis	44
1102		BRT059	Bartsocas-Papas Syndrome	42
1103		GRN022	Granulosa Cell Tumor of the Ovary	41
1104	P	ATL001	Atelosteogenesis	41
1105	c	HMC021	Hemochromatosis, Type 2a	41
1106	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
1107	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
1108	c	OTP006	Otopalatodigital Syndrome, Type I	39
1109	c	HYP602	Hyperoxaluria, Primary, Type Ii	38
1110		AMY098	Amyotrophy, Monomelic	38
1111	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	38
1112	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	38
1113	c	STC015	Stickler Syndrome, Type I	38
1114	P	MYC078	Myoclonus and Ataxia	37
1115	P	SPS008	Spastic Ataxia	37
1116		DNC004	Diencephalic Syndrome	37
1117	c	ATS076	Autosomal Recessive Stickler Syndrome	37
1118		LCL022	Localized Lipodystrophy	36
1119	c	NRC010	Narcolepsy 2	36
1120	c	NML006	Nemaline Myopathy 5	35
1121	c	ATL015	Atelosteogenesis, Type Ii	35
1122		MTH064	Methemoglobinemia, Beta-Globin Type	35
1123		WDH001	Wdha Syndrome	34
1124		CLD003	Cold-Induced Sweating Syndrome	34
1125	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	34
1126		SRN002	Sirenomelia	34
1127		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	34
1128		PPC001	Pepck 1 Deficiency	33
1129		GRC001	Gracile Syndrome	33
1130	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	33
1131	c	PSD090	Pseudohypoaldosteronism, Type Iia	33
1132		WYB002	Wyburn-Mason Syndrome	32
1133		PNT005	Pentalogy of Cantrell	32
1134	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	32
1135		HMF010	Hemifacial Microsomia with Radial Defects	32
1136	c	SPS031	Spastic Paraplegia 23	31
1137	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	31
1138	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	31
1139	P	SNG014	Singleton-Merten Syndrome	31
1140	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	30
1141		PRT055	Prieto X-Linked Mental Retardation Syndrome	30
1142		49X001	49, Xxxxx	30
1143	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	30
1144	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	29
1145		SPR031	Sprengel Deformity	29
1146		LGH003	Leigh Syndrome, French Canadian Type	29
1147	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	29
1148	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1149	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	29
1150		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	29
1151		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	28
1152		CHR229	Chromosome 20p Duplication	28
1153	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	28
1154	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	27
1155		TTR013	Tetrasomy X	27
1156		CLF044	Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly	27
1157		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
1158	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	27
1159		MCR067	Microcoria, Congenital	27
1160	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1161	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	26
1162	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	26
1163	c	SNG011	Singleton-Merten Syndrome 1	26
1164	c	PSD093	Pseudohypoaldosteronism, Type Iid	26
1165	c	PLY149	Polydactyly, Preaxial Iv	26
1166		CHR268	Chromosome 8q Duplication	25
1167		INT277	Intellectual Disability-Developmental Delay-Contractures Syndrome	25
1168		GBM001	Gaba Aminotransferase Deficiency	25
1169		VSC049	Visceral Myopathy, Familial, with External Ophthalmoplegia	25
1170		SRP002	Serpiginous Choroiditis	25
1171		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	25
1172		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	25
1173	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	24
1174		PRX086	Paroxysmal Exertion-Induced Dyskinesia	24
1175		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
1176		OCL016	Ocular Albinism, X-Linked	24
1177	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	24
1178	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	24
1179	c	SPS027	Spastic Paraplegia 17	24
1180	c	JVN019	Juvenile Temporal Arteritis	24
1181		PRS053	Parsonage Turner Syndrome	24
1182	c	FRD006	Friedreich Ataxia 2	24
1183		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	23
1184	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
1185	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	23
1186		CHR212	Chromosome 18p Duplication	23
1187	c	HMC019	Hemochromatosis, Type 2b	23
1188	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
1189	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	23
1190	c	PRK008	Parkinson Disease Type 9	22
1191		MTP004	Metaphyseal Acroscyphodysplasia	22
1192	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	22
1193		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	21
1194	c	PLY136	Polydactyly, Preaxial I	21
1195	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	21
1196		LRB003	Lrba Deficiency	21
1197	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	21
1198		VNF001	Vein of Galen Aneurysm	20
1199	c	EPL093	Epilepsy, Idiopathic Generalized 7	20
1200	c	EPL084	Epilepsy, Idiopathic Generalized 11	20
1201	c	STC012	Stickler Syndrome, Type Iv	20
1202	c	EPL086	Epilepsy, Idiopathic Generalized 9	20
1203	P	MTC144	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	19
1204	c	STC011	Stickler Syndrome, Type V	19
1205		CNT063	Continuous Spike-Wave During Slow Sleep Syndrome	19
1206	c	TRN053	Transient Pseudohypoaldosteronism	19
1207	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
1208	c	PSD094	Pseudohypoaldosteronism, Type Iib	18
1209	c	SNG012	Singleton-Merten Syndrome 2	18
1210	c	NRC017	Narcolepsy 7	18
1211	c	EPL098	Epilepsy, Idiopathic Generalized 12	18
1212	c	GLT029	Glutaric Acidemia Type Iii	18
1213	c	EPL165	Epilepsy, Idiopathic Generalized 14	17
1214	c	EPL205	Epilepsy, Idiopathic Generalized 13	17
1215	c	EPL091	Epilepsy, Idiopathic Generalized 3	17
1216		FRB005	Freiberg's Disease	17
1217	c	NRC011	Narcolepsy 3	17
1218		WLF008	Wolffian Tumor	17
1219		TRS010	Trisomy 17 Mosaicism	16
1220	c	GSR001	Gosr2-Related Progressive Myoclonus Ataxia	15
1221		AQG003	Aquagenic Syringeal Acrokeratoderm	15
1222	c	EPL208	Epilepsy, Idiopathic Generalized 8	14
1223		CHR199	Chromosome 15q Duplication	14
1224	P	OTP002	Otopalatodigital Spectrum Disorders	14
1225		DYT007	Dyt-Tubb4a	13
1226	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	13
1227		CHR258	Chromosome 6q Duplication	13
1228	c	NRC012	Narcolepsy 4	12
1229	c	EPL089	Epilepsy, Idiopathic Generalized 4	12
1230	c	EPL090	Epilepsy, Idiopathic Generalized 5	12
1231	c	NRC013	Narcolepsy 5	12
1232	c	EPL092	Epilepsy, Idiopathic Generalized 2	11
1233	c	EPL236	Epilepsy, Idiopathic Generalized 15	11
1234	c	NRC018	Narcolepsy 6	11
1235	c	SPS214	Spastic Ataxia 4	10
1236	c	SPS171	Spastic Ataxia 5	10
1237	c	SPS162	Spastic Ataxia 1	9
1238	c	SPS163	Spastic Ataxia 3	9
1239		TRN026	Tranebjaerg Svejgaard Syndrome	9
1240	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	9
1241	c	SPS170	Spastic Ataxia 2	8
1242	c	SPS172	Spastic Ataxia 7	8
1243	c	SPS229	Spastic Ataxia 8	8
1244	c	SCL055	Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	7
1245	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
1246	c	SCL054	Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	6
1247	P	THN009	Thanatophoric Dysplasia, Type I	65
1248	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	65
1249		FBR011	Fibrodysplasia Ossificans Progressiva	64
1250	P	TRC072	Treacher Collins Syndrome 1	64
1251		RCT015	Reactive Arthritis	63
1252	P	OVR049	Ovarian Disease	63
1253		MYC079	Myoclonic Epilepsy of Lafora	60
1254		FRC011	Fructose Intolerance, Hereditary	60
1255		SPN060	Spondylocarpotarsal Synostosis Syndrome	60
1256	c	MCL013	Mucolipidosis Iv	59
1257		PRC002	Paracoccidioidomycosis	59
1258	c	ESS001	Essential Tremor	59
1259		FCL081	Focal Cortical Dysplasia, Type Ii	58
1260	P	ACT105	Acute Mountain Sickness	58
1261		CHR619	Chromosome 2q35 Duplication Syndrome	58
1262	P	VND007	Van Der Woude Syndrome 1	57
1263	c	GM1004	Gm1-Gangliosidosis, Type I	57
1264		DBF001	D-Bifunctional Protein Deficiency	56
1265	P	TRM003	Tremor	56
1266		BRN003	Branchiooculofacial Syndrome	56
1267		HYP052	Hyperkalemic Periodic Paralysis	55
1268		PSD012	Pseudoachondroplasia	55
1269		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	54
1270		EPD015	Epidemic Typhus	52
1271	P	JRV004	Jervell and Lange-Nielsen Syndrome 1	52
1272		IDP024	Idiopathic Inflammatory Myopathy	52
1273		SMT003	Somatostatinoma	52
1274		HNT002	Hantavirus Pulmonary Syndrome	51
1275		NM001	Noma	51
1276		MLT145	Multiple Enchondromatosis, Maffucci Type	51
1277		AND020	Androgen Insensitivity, Partial	51
1278		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	51
1279		FCT004	Factor Xii Deficiency	51
1280	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
1281		IDP035	Idiopathic Achalasia	50
1282		PHL006	Phelan-Mcdermid Syndrome	50
1283	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	49
1284	c	GM2006	Gm2 Gangliosidosis	49
1285	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
1286	c	MGL009	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	48
1287	P	PRS049	Persistent Mullerian Duct Syndrome	47
1288	c	SPL067	Split-Hand/foot Malformation 1	47
1289	P	GLT035	Glutaric Acidemia I	47
1290	c	CHR546	Chronic Mountain Sickness	47
1291	P	CPL003	Capillary Leak Syndrome	46
1292	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	46
1293	c	SYS007	Systemic Capillary Leak Syndrome	46
1294		MLK003	Melkersson-Rosenthal Syndrome	45
1295		SCR020	Sacral Defect with Anterior Meningocele	44
1296		LTR003	Lateral Medullary Syndrome	43
1297		IRN004	Iron-Refractory Iron Deficiency Anemia	42
1298		PLN006	Poland Syndrome	41
1299	c	GLC083	Glaucoma 3, Primary Infantile, B	40
1300	c	SPL034	Split-Hand/foot Malformation 4	40
1301		ANR018	Anorchia	40
1302		TNG001	Tungiasis	40
1303		ARM004	Aromatase Excess Syndrome	39
1304		NNT024	Neonatal Stroke	39
1305		PTC001	Potocki-Shaffer Syndrome	39
1306		PSD088	Pseudobulbar Affect	39
1307	P	ACR062	Acroosteolysis	38
1308	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	38
1309		CHL073	Cholestasis-Lymphedema Syndrome	38
1310	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	38
1311	P	JVN042	Juvenile Retinoschisis	37
1312		CHR518	Chromosome 9p Deletion Syndrome	37
1313	c	PRM032	Primary Congenital Glaucoma	37
1314	c	SPL070	Split-Hand/foot Malformation 2	37
1315		BCK005	Becker Nevus Syndrome	37
1316	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
1317	c	ATS384	Autosomal Dominant Non-Syndromic Intellectual Disability 2	36
1318	P	JVN008	Juvenile Glaucoma	36
1319	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
1320	c	SPL033	Split-Hand/foot Malformation 6	36
1321		LND001	Landau-Kleffner Syndrome	36
1322	c	ACR044	Acroosteolysis Dominant Type	36
1323		SCH071	Schaaf-Yang Syndrome	35
1324	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
1325		TRL002	Tarlov Cysts	35
1326	P	NNT042	Neonatal Lupus Erythematosus	34
1327		FMR018	Femoral-Facial Syndrome	34
1328		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	34
1329	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	34
1330		DQR001	De Quervain Disease	34
1331	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	33
1332		WTK002	Witkop Syndrome	33
1333	c	SPL025	Split-Hand/foot Malformation 5	33
1334		CHR247	Chromosome 4p Deletion	33
1335		STT009	Sutton Disease 2	32
1336	P	PRX010	Paroxysmal Ventricular Fibrillation	32
1337	P	NNS031	Non-Syndromic Intellectual Disability	32
1338	c	ATS385	Autosomal Dominant Non-Syndromic Intellectual Disability 3	31
1339	c	ATS204	Autosomal Recessive Non-Syndromic Intellectual Disability	31
1340	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	31
1341	c	ACQ027	Acquired Cutis Laxa	30
1342		RBF003	Riboflavin Transporter Deficiency	30
1343	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
1344	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	29
1345		CRT039	Corticosterone Methyloxidase Type I Deficiency	28
1346		CHR265	Chromosome 8p Duplication	28
1347	c	ERL012	Early-Onset Glaucoma	28
1348		EMB015	Embryonal Tumor with Multilayered Rosettes	28
1349		ESN016	Eosinophilic Pustular Folliculitis	28
1350		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	28
1351		CHR270	Chromosome 9p Duplication	27
1352	c	GLY006	Glycogen Storage Disease Viii	26
1353	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	26
1354		BJL001	Bejel	26
1355		LKN007	Leukonychia Totalis	26
1356	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
1357	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
1358		TCH005	Tièche-Jadassohn Nevus	25
1359		ACR034	Acrogeria, Gottron Type	25
1360		KRN007	Kerion Celsi	25
1361		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	25
1362		MNS016	Monosomy 7 of Bone Marrow	25
1363	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	25
1364		CHR248	Chromosome 4p Duplication	24
1365		CHR189	Chromosome 12p Deletion	24
1366		CHR190	Chromosome 12p Duplication	24
1367		CHR208	Chromosome 17p Deletion	23
1368	c	ATS383	Autosomal Dominant Non-Syndromic Intellectual Disability 1	23
1369	c	FBR079	Fibromatosis, Gingival, 2	22
1370		CHR243	Chromosome 3p Deletion	22
1371	c	FMR009	Fmr1-Related Primary Ovarian Insufficiency	22
1372	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	22
1373		CHR257	Chromosome 6q Deletion	21
1374	c	TRC073	Treacher Collins Syndrome 2	21
1375	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1376	c	NNT025	Neonatal Systemic Lupus Erythematosus	21
1377		CHR252	Chromosome 5p Duplication	21
1378		CHD007	Chd2 Myoclonic Encephalopathy	20
1379		DBT018	Diabetic Mastopathy	20
1380	c	GLC054	Glaucoma 3, Primary Congenital, D	20
1381		IQS001	Iqsec2	19
1382	c	TRM022	Tremor, Hereditary Essential, 5	18
1383		CHR182	Chromosome 10p Duplication	18
1384		CHR192	Chromosome 12q Duplication	18
1385		1QD001	1q Duplications	18
1386		CHR220	Chromosome 1p Deletion	18
1387	c	ATS387	Autosomal Dominant Non-Syndromic Intellectual Disability 5	17
1388	c	GLC089	Glaucoma 3, Primary Congenital, E	17
1389	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	17
1390	c	TRM017	Tremor, Hereditary Essential, 4	16
1391	P	17Q010	17q12 Deletion Syndrome	16
1392	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	16
1393	c	LTB003	Ltbp4-Related Cutis Laxa	16
1394	c	FBR077	Fibromatosis, Gingival, 3	16
1395		HND013	Handl Syndrome	16
1396	c	ATS386	Autosomal Dominant Non-Syndromic Intellectual Disability 4	15
1397	c	FBR080	Fibromatosis, Gingival, 4	15
1398		CHR272	Chromosome 9q Duplication	15
1399		PMP003	Pemphigus and Fogo Selvagem	15
1400		CHR271	Chromosome 9q Deletion	15
1401		CHR184	Chromosome 10q Duplication	15
1402		CHR264	Chromosome 8p Deletion	14
1403		CHR244	Chromosome 3p Duplication	14
1404		CHR249	Chromosome 4q Deletion	14
1405	c	EFM001	Efemp2-Related Cutis Laxa	14
1406		CHR250	Chromosome 4q Duplication	14
1407		CHR238	Chromosome 2p Duplication	14
1408		CHR188	Chromosome 11q Duplication	14
1409	c	GLC052	Glaucoma 3, Primary Congenital, C	14
1410		CHR261	Chromosome 7p Duplication	13
1411		CHR263	Chromosome 7q Duplication	13
1412		CHR183	Chromosome 10q Deletion	13
1413		CHR223	Chromosome 1q Deletion	13
1414		CHR230	Chromosome 20q Deletion	13
1415		CHR240	Chromosome 2q Duplication	13
1416		CHR235	Chromosome 22q Deletion	12
1417	c	SYN070	Syngap1-Related Non-Syndromic Intellectual Disability	12
1418		CHR195	Chromosome 14q Deletion	12
1419		CHR203	Chromosome 16p Duplication	12
1420		CHR256	Chromosome 6p Duplication	12
1421		CHR239	Chromosome 2q Deletion	12
1422		CHR233	Chromosome 21q Deletion	12
1423		CHR207	Chromosome 16q Duplication	12
1424		CHR196	Chromosome 14q Duplication	11
1425		CHR181	Chromosome 10p Deletion	11
1426		CHR255	Chromosome 6p Deletion	11
1427	c	TRM016	Tremor, Hereditary Essential, 3	11
1428		CHR198	Chromosome 15q Deletion	11
1429		CHR194	Chromosome 13q Duplication	11
1430		CHR231	Chromosome 20q Duplication	11
1431	c	ATS390	Autosomal Dominant Non-Syndromic Intellectual Disability 9	11
1432	c	ATS388	Autosomal Dominant Non-Syndromic Intellectual Disability 6	11
1433		CHR210	Chromosome 17q Duplication	10
1434		CHR215	Chromosome 19p Deletion	10
1435		AHM001	Ahumada Del Castillo Syndrome	10
1436		CHR185	Chromosome 11p Deletion	10
1437		CHR237	Chromosome 2p Deletion	10
1438		CHR214	Chromosome 18q Duplication	10
1439		CHR221	Chromosome 1p Duplication	10
1440		STT042	Stt3a-Cdg and Stt3b-Cdg	10
1441		CHR260	Chromosome 7p Deletion	10
1442		CHR217	Chromosome 19q Deletion	10
1443		CHR228	Chromosome 20p Deletion	10
1444		CHR218	Chromosome 19q Duplication	10
1445		CHR274	Chromosome Xq Duplication	9
1446		CHR267	Chromosome 8q Deletion	9
1447	c	ATS389	Autosomal Dominant Non-Syndromic Intellectual Disability 8	9
1448		CHR191	Chromosome 12q Deletion	9
1449		CHR206	Chromosome 16q Deletion	9
1450		SPL023	Split Hand/foot Malformation X-Linked	9
1451		CHR245	Chromosome 3q Deletion	9
1452	c	ATS417	Autosomal Dominant Non-Syndromic Intellectual Disability 19	9
1453	c	FBL003	Fbln5-Related Cutis Laxa	8
1454	c	ADL083	Adult-Onset Citrullinemia Type I	8
1455		CHR234	Chromosome 21q Duplication	8
1456		MPN002	Mepan Syndrome	6
1457		CHR216	Chromosome 19p Duplication	6
1458	c	17Q009	17q12 Recurrent Deletion Syndrome	3
1459	P	RTT002	Rett Syndrome	83
1460		LPD016	Lipoid Proteinosis of Urbach and Wiethe	67
1461		RCK004	Rickets	66
1462	P	DYS154	Dystonia	66
1463		FCT007	Factor Vii Deficiency	61
1464		CMP005	Campomelic Dysplasia	58
1465	P	PRM011	Primary Ciliary Dyskinesia	56
1466	c	BNG091	Benign Chronic Pemphigus	54
1467	c	DYS056	Dystonia 12	54
1468		RTC002	Reticular Dysgenesis	54
1469	c	CLR131	Ciliary Dyskinesia, Primary, 1	52
1470	c	GLY011	Glycogen Storage Disease Vii	52
1471		CLD007	Cold Agglutinin Disease	51
1472		CNG046	Congenital Fiber-Type Disproportion	51
1473		MCL075	Macular Dystrophy, Corneal	49
1474	P	PRM018	Primary Hypertrophic Osteoarthropathy	48
1475		ISV001	Isovaleric Acidemia	48
1476		CRN005	Craniofrontonasal Syndrome	48
1477	P	ENC008	Encephalocele	48
1478		GLY014	Glycerol Kinase Deficiency	47
1479		NRL002	Neurilemmomatosis	46
1480		OCL033	Oculocerebral Syndrome with Hypopigmentation	46
1481	P	KLF001	Kleefstra Syndrome	46
1482		BHR002	Bohring-Opitz Syndrome	45
1483		WDM004	Wiedemann-Steiner Syndrome	44
1484	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	44
1485		PRL019	Prolidase Deficiency	44
1486	c	SCN005	Secondary Hypertrophic Osteoarthropathy	43
1487		HND004	Hand-Foot-Genital Syndrome	43
1488		CRN286	Corneal Dystrophy, Meesmann	42
1489	c	STR085	Striatonigral Degeneration, Infantile	41
1490		ACH001	Acheiropody	41
1491		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	41
1492	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
1493	c	VNM003	Van Maldergem Syndrome 1	39
1494		ART035	Arterial Calcification of Infancy	39
1495		HYP737	Hyperhidrosis, Gustatory	38
1496	c	DYS119	Dystonia 9	38
1497		EPL131	Epilepsy, Pyridoxine-Dependent	38
1498	P	STR001	Striatonigral Degeneration	38
1499	P	HYP769	Hyperlysinemia, Type I	36
1500	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	36
1501		SCL025	Scleromyxedema	35
1502		CTL005	Catel-Manzke Syndrome	35
1503		TLS001	Tolosa-Hunt Syndrome	35
1504	P	OMD003	Omodysplasia	35
1505		KNZ001	Kanzaki Disease	34
1506	c	KLF004	Kleefstra Syndrome 1	33
1507	P	UNC017	Uncombable Hair Syndrome 1	33
1508	c	HRD198	Hereditary Dystonia	32
1509		ICH026	Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis	31
1510		ESN009	Eosinophil Peroxidase Deficiency	31
1511	P	VNM004	Van Maldergem Syndrome	29
1512	c	OMD001	Omodysplasia 1	29
1513	P	ACR093	Acrofrontofacionasal Dysostosis	29
1514	c	DYS059	Dystonia 16	28
1515	c	DYS146	Dystonia 24	28
1516	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
1517		CRD017	Cardiac Valvular Dysplasia, X-Linked	27
1518	c	BSL030	Basal Encephalocele	25
1519	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
1520	c	DYS145	Dystonia 23	25
1521	c	CLR090	Ciliary Dyskinesia, Primary, 22	25
1522	c	FRN037	Frontal Encephalocele	24
1523		CMP093	Complement Component 8 Deficiency, Type I	24
1524	c	CLR066	Ciliary Dyskinesia, Primary, 2	24
1525	c	VNM002	Van Maldergem Syndrome 2	24
1526	c	CLR114	Ciliary Dyskinesia, Primary, 30	24
1527	c	RTT008	Rett Syndrome, Congenital Variant	23
1528	c	CLR094	Ciliary Dyskinesia, Primary, 28	23
1529	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	23
1530		LRY026	Laryngeal Cleft	22
1531	c	CLR102	Ciliary Dyskinesia, Primary, 17	22
1532	c	CLR105	Ciliary Dyskinesia, Primary, 20	22
1533	c	CLR106	Ciliary Dyskinesia, Primary, 26	22
1534	c	DYS151	Dystonia 25	22
1535	c	CLR068	Ciliary Dyskinesia, Primary, 5	22
1536	c	CLR125	Ciliary Dyskinesia, Primary, 33	22
1537	c	CLR095	Ciliary Dyskinesia, Primary, 19	22
1538	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
1539	c	CLR104	Ciliary Dyskinesia, Primary, 15	22
1540	c	DYS172	Dystonia 27	22
1541	c	CLR054	Ciliary Dyskinesia, Primary, 12	22
1542	c	CLR042	Ciliary Dyskinesia, Primary, 6	21
1543	c	DYS138	Dystonia 21	21
1544	c	CLR117	Ciliary Dyskinesia, Primary, 32	21
1545	c	CLR101	Ciliary Dyskinesia, Primary, 25	21
1546	c	CLR136	Ciliary Dyskinesia, Primary, 9	21
1547	c	CLR092	Ciliary Dyskinesia, Primary, 18	21
1548	c	CLR098	Ciliary Dyskinesia, Primary, 27	21
1549	c	CLR116	Ciliary Dyskinesia, Primary, 29	21
1550	c	CLR099	Ciliary Dyskinesia, Primary, 16	20
1551	c	CLR135	Ciliary Dyskinesia, Primary, 7	20
1552	c	CLR088	Ciliary Dyskinesia, Primary, 21	20
1553	c	CLR059	Ciliary Dyskinesia, Primary, 13	20
1554		CMP092	Complement Component 8 Deficiency, Type Ii	20
1555	c	CLR097	Ciliary Dyskinesia, Primary, 23	20
1556	c	CLR056	Ciliary Dyskinesia, Primary, 10	20
1557	c	CLR107	Ciliary Dyskinesia, Primary, 24	19
1558	c	CLR053	Ciliary Dyskinesia, Primary, 11	19
1559	c	CLR134	Ciliary Dyskinesia, Primary, 3	19
1560	c	CLR124	Ciliary Dyskinesia, Primary, 34	18
1561	c	CLR123	Ciliary Dyskinesia, Primary, 37	18
1562	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	18
1563	c	KLF005	Kleefstra Syndrome 2	17
1564	c	CLR138	Ciliary Dyskinesia, Primary, 38	17
1565	c	CLR067	Ciliary Dyskinesia, Primary, 4	17
1566		CLD006	Cleidorhizomelic Syndrome	17
1567	c	CLR069	Ciliary Dyskinesia, Primary, 8	16
1568	c	CLR139	Ciliary Dyskinesia, Primary, 39	16
1569	c	CLR140	Ciliary Dyskinesia, Primary, 40	16
1570	c	UNC019	Uncombable Hair Syndrome 2	15
1571	c	UNC018	Uncombable Hair Syndrome 3	14
1572	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	13
1573	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1574		MLD001	Melioidosis	73
1575		CRN036	Craniopharyngioma	68
1576	c	DPH024	Diaphragmatic Hernia, Congenital	66
1577		HTC003	Hutchinson-Gilford Progeria Syndrome	65
1578	P	HRM001	Hermansky-Pudlak Syndrome	64
1579	P	PLY014	Polycystic Kidney Disease	63
1580		CRC021	Carcinosarcoma	62
1581	P	PTN014	Patent Ductus Arteriosus 1	62
1582		GLB001	Gilbert Syndrome	59
1583	P	SLV001	Silver-Russell Syndrome	58
1584	P	HYP035	Hypophosphatasia	58
1585	P	CTR002	Cataract	58
1586	c	GLC092	Glaucoma, Primary Open Angle	58
1587		GLY010	Glycine Encephalopathy	57
1588	c	INF071	Inflammatory Bowel Disease 1	57
1589	c	MCL046	Mucolipidosis Iii Alpha/beta	56
1590	P	RTN016	Retinal Degeneration	56
1591	P	INF037	Inflammatory Bowel Disease	56
1592	c	DYS191	Dystonia 1, Torsion, Autosomal Dominant	55
1593		CYS010	Cystinosis	55
1594	P	SCK004	Seckel Syndrome	54
1595		CRT033	Corticobasal Degeneration	53
1596	P	OPN001	Open-Angle Glaucoma	53
1597	c	HYP293	Hypophosphatasia, Adult	53
1598		RSD004	Rosai-Dorfman Disease	52
1599	c	ART120	Arthrogryposis, Distal, Type 3	52
1600		PST062	Pustulosis Palmaris Et Plantaris	52
1601	c	HRM005	Hermansky-Pudlak Syndrome 1	51
1602		OCL069	Ocular Motor Apraxia	51
1603	c	HRM008	Hermansky-Pudlak Syndrome 5	51
1604		TWN001	Twin-to-Twin Transfusion Syndrome	51
1605		MRC002	Marcus Gunn Phenomenon	51
1606	c	HYP292	Hypophosphatasia, Infantile	51
1607	P	WLL002	Weill-Marchesani Syndrome	50
1608	P	FML068	Familial Hypocalciuric Hypercalcemia	50
1609	c	HRM006	Hermansky-Pudlak Syndrome 3	50
1610	c	DWL002	Dowling-Degos Disease 1	50
1611		KLN009	Kleine-Levin Hibernation Syndrome	49
1612		HYP781	Hypoascorbemia	49
1613		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	48
1614		AMB001	Amebiasis	48
1615		TRC023	Trichinosis	47
1616	c	BRC079	Brachydactyly, Type A2	47
1617	c	LTN004	Late-Onset Retinal Degeneration	47
1618		SGW002	Segawa Syndrome, Autosomal Recessive	47
1619	P	DNR001	Duane Retraction Syndrome	46
1620		CHR492	Chromosome 13q14 Deletion Syndrome	46
1621		TKL001	Tukel Syndrome	46
1622		KPS002	Kaposiform Hemangioendothelioma	46
1623		GLT007	Glutathione Synthetase Deficiency	46
1624		LNR006	Linear Iga Disease	46
1625		PRS115	Prosthetic Joint Infection	46
1626	c	ALB010	Albinism, Oculocutaneous, Type Ib	45
1627	c	SPN311	Spinocerebellar Ataxia 13	45
1628	P	DWL001	Dowling-Degos Disease	45
1629	c	LPD019	Lipodystrophy, Partial, Acquired	45
1630		HST006	Histidinemia	45
1631	c	BRC060	Brachydactyly, Type E2	44
1632		ADP007	Adie Pupil	43
1633	c	HRM009	Hermansky-Pudlak Syndrome 6	43
1634	c	WRB002	Warburg Micro Syndrome 1	43
1635	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	42
1636	c	MYP123	Myopathy, Centronuclear, 1	42
1637	c	AMY090	Amyotrophic Lateral Sclerosis 8	42
1638	c	AMY069	Amyotrophic Lateral Sclerosis 21	42
1639	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	42
1640	c	BRC052	Brachydactyly, Type B2	42
1641		KLV001	Kluver-Bucy Syndrome	41
1642	c	CTR130	Cataract 9, Multiple Types	41
1643	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
1644	c	BRC062	Brachydactyly, Type D	41
1645	P	XNT004	Xanthinuria	41
1646		PYR037	Pyruvate Carboxylase Deficiency	40
1647	c	XNT010	Xanthinuria, Type I	40
1648		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	40
1649	c	CTR098	Cataract 1, Multiple Types	40
1650	c	DNR003	Duane Retraction Syndrome 1	39
1651		SPR007	Superior Mesenteric Artery Syndrome	39
1652	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	39
1653		LRW001	Leri-Weill Dyschondrosteosis	39
1654		CRB079	Cerebrospinal Fluid Leak	39
1655	c	HRM011	Hermansky-Pudlak Syndrome 8	39
1656		MLD006	Mal De Meleda	39
1657	P	SRT003	Sertoli-Leydig Cell Tumor	38
1658		HMC038	Hemochromatosis, Neonatal	38
1659		MYT030	Myotonia, Potassium-Aggravated	38
1660	c	CTR115	Cataract 16, Multiple Types	38
1661	c	HRM012	Hermansky-Pudlak Syndrome 9	37
1662		KRT013	Keratolytic Winter Erythema	37
1663	c	CTR170	Cataract 30, Multiple Types	37
1664	c	SPN094	Spinocerebellar Ataxia 18	36
1665	c	HRM007	Hermansky-Pudlak Syndrome 4	36
1666	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
1667	c	SPR083	Sporadic Hemiplegic Migraine	36
1668	c	INF092	Inflammatory Bowel Disease 9	35
1669		NCT003	N-Acetylglutamate Synthase Deficiency	35
1670	P	CRB154	Cerebrocostomandibular Syndrome	35
1671	c	DNT025	Dentinogenesis Imperfecta 1	35
1672	P	SCH017	Schindler Disease	35
1673		SPN125	Spondyloenchondrodysplasia	35
1674	c	XNT011	Xanthinuria, Type Ii	34
1675	c	ART147	Arthrogryposis, Distal, Type 7	34
1676	c	WRB003	Warburg Micro Syndrome 2	34
1677		PRM050	Primary Orthostatic Tremor	34
1678	c	DYS067	Dystonia 6, Torsion	34
1679	c	AMY085	Amyotrophic Lateral Sclerosis 9	34
1680	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	34
1681		GRS001	Gerstmann Syndrome	34
1682	c	HRD142	Hereditary Xanthinuria	34
1683	c	HRM010	Hermansky-Pudlak Syndrome 7	34
1684	c	CTR141	Cataract 21, Multiple Types	33
1685	c	AMY067	Amyotrophic Lateral Sclerosis 18	33
1686	c	INF087	Inflammatory Bowel Disease 4	33
1687		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
1688	c	CTR118	Cataract 14, Multiple Types	33
1689	c	SCH069	Schindler Disease, Type I	33
1690	c	CTR122	Cataract 5, Multiple Types	33
1691	P	WRB001	Warburg Micro Syndrome	33
1692	c	CTR103	Cataract 4, Multiple Types	32
1693	c	CTR145	Cataract 44	32
1694		HMM002	Haim-Munk Syndrome	32
1695		CHR281	Chronic Hiccups	32
1696	c	AMY059	Amyotrophic Lateral Sclerosis 19	32
1697		MDN008	Median Arcuate Ligament Syndrome	32
1698	c	AMY088	Amyotrophic Lateral Sclerosis 3	31
1699	c	GLC041	Glaucoma 1, Open Angle, a	31
1700	c	CTR158	Cataract 37	31
1701	c	AMY083	Amyotrophic Lateral Sclerosis 11	31
1702	P	FRS004	Free Sialic Acid Storage Disorders	31
1703	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	31
1704	c	SCK011	Seckel Syndrome 5	30
1705	c	INF086	Inflammatory Bowel Disease 3	30
1706	c	SPN104	Spinocerebellar Ataxia 34	30
1707	c	CTR132	Cataract 3, Multiple Types	30
1708	c	CTR125	Cataract 7	30
1709		IVC001	Ivic Syndrome	29
1710	c	CTR096	Cataract 6, Multiple Types	29
1711	c	CTR102	Cataract 2, Multiple Types	29
1712		MLD010	Mild Phenylketonuria	29
1713	c	HRM020	Hermansky-Pudlak Syndrome 10	29
1714		PRN035	Perniosis	29
1715	P	HRZ002	Horizontal Gaze Palsy with Progressive Scoliosis	29
1716	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	28
1717		FRN022	Frontofacionasal Dysplasia	28
1718	c	CTR175	Cataract 24	28
1719		NTR011	Neutrophil-Specific Granule Deficiency	28
1720	c	CTR121	Cataract 25	28
1721	P	TTH021	Tethered Cord Syndrome	28
1722	c	FML306	Familial or Sporadic Hemiplegic Migraine	27
1723		HYP160	Hyperkeratosis Lenticularis Perstans	27
1724	c	INF089	Inflammatory Bowel Disease 6	27
1725	c	CTR174	Cataract 40	27
1726	c	AMY089	Amyotrophic Lateral Sclerosis 7	27
1727	c	DYS063	Dystonia 2, Torsion, Autosomal Recessive	27
1728		EPL230	Epilepsy with Myoclonic-Atonic Seizures	27
1729	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	27
1730	c	AMY055	Amyotrophic Lateral Sclerosis 17	26
1731		PGD001	Pagod Syndrome	26
1732		CHR266	Chromosome 8p23.1 Deletion	26
1733	c	SPS091	Spastic Paraplegia 4	26
1734	c	BRC099	Brachydactyly, Type A4	26
1735	c	GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	26
1736		YCH001	Y Chromosome Infertility	26
1737	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
1738	c	MYP148	Myopathy, Centronuclear, 5	26
1739		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	26
1740	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
1741		CLC017	Calcification of Joints and Arteries	25
1742		FBR088	Fibromatosis, Gingival, with Progressive Deafness	25
1743	c	DYS163	Dystonia 4, Torsion, Autosomal Dominant	25
1744	c	INF088	Inflammatory Bowel Disease 5	25
1745	c	INF075	Inflammatory Bowel Disease 16	25
1746	c	SPS025	Spastic Paraplegia 15	25
1747	c	LPD044	Lipodystrophy, Familial Partial, Type 7	25
1748	c	CTR169	Cataract 29	24
1749	c	MGR031	Migraine, Familial Hemiplegic, 3	24
1750	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
1751	c	ORF036	Orofaciodigital Syndrome Xiv	24
1752		YNG002	Young Syndrome	24
1753	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
1754	c	WLL040	Weill-Marchesani Syndrome 4	24
1755	c	SCK029	Seckel Syndrome 7	24
1756	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	24
1757	c	INF078	Inflammatory Bowel Disease 2	24
1758	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	23
1759		ACR107	Acrofacial Dysostosis, Palagonia Type	23
1760	c	CTR166	Cataract 33, Multiple Types	23
1761	c	BRC080	Brachydactyly, Type A1, B	23
1762	c	AMY063	Amyotrophic Lateral Sclerosis 20	23
1763	c	CTR116	Cataract 15, Multiple Types	23
1764		ACN013	Acanthocheilonemiasis	23
1765	P	DYS068	Dystonia 7, Torsion	23
1766	c	CTR131	Cataract 17, Multiple Types	23
1767	P	ALP068	Alopecia-Intellectual Disability Syndrome	22
1768	c	BRC075	Brachydactyly, Type A1, C	22
1769	c	SCK037	Seckel Syndrome 9	22
1770		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	22
1771	c	CTR180	Cataract 22, Multiple Types	22
1772		LCH008	Lichen Planus Pigmentosus	22
1773	c	CTR162	Cataract 47	22
1774	c	SCK038	Seckel Syndrome 10	22
1775	c	CTR124	Cataract 10, Multiple Types	22
1776	c	CTR165	Cataract 19, Multiple Types	22
1777		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1778	c	CTR184	Cataract 39, Multiple Types	22
1779	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	22
1780		OGL001	Ogilvie Syndrome	21
1781	c	INF072	Inflammatory Bowel Disease 11	21
1782		ACR019	Acropectoral Syndrome	21
1783	c	MYP098	Myopathy, Centronuclear, 4	21
1784	c	BRC105	Brachydactyly, Type A1, D	21
1785	c	CTR105	Cataract 12, Multiple Types	21
1786		RTN145	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	21
1787	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	21
1788	c	INF077	Inflammatory Bowel Disease 19	21
1789	c	CTR159	Cataract 35	20
1790	c	INF162	Inflammatory Bowel Disease 25	20
1791	c	CTR182	Cataract 23, Multiple Types	20
1792		DSS022	Disseminated Peritoneal Leiomyomatosis	20
1793	c	AMY062	Amyotrophic Lateral Sclerosis 12	20
1794	c	INF090	Inflammatory Bowel Disease 7	20
1795	c	CTR183	Cataract 38	20
1796	c	CHR227	Chromosome 20 Trisomy	20
1797	c	CTR163	Cataract 46, Juvenile-Onset	20
1798	c	CTR097	Cataract 34, Multiple Types	20
1799	c	CRN068	Corneal Endothelial Dystrophy Type 2	20
1800	c	CTR111	Cataract 36	20
1801	c	CTR136	Cataract 41	20
1802	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	19
1803	c	INF160	Inflammatory Bowel Disease 17	19
1804	c	AMY112	Amyotrophic Lateral Sclerosis 25	19
1805		BRC100	Brachydactyly, Combined B and E Types	19
1806		XLN134	X-Linked Intellectual Disability, Siderius Type	19
1807	c	CTR110	Cataract 26, Multiple Types	19
1808	c	CTR139	Cataract 42	19
1809	c	DYS184	Dystonia 17, Torsion, Autosomal Recessive	19
1810	c	AMY110	Amyotrophic Lateral Sclerosis 24	19
1811		ATS012	Autosomal Dominant Partial Epilepsy with Auditory Features	19
1812	c	AMY108	Amyotrophic Lateral Sclerosis 23	18
1813	c	SCK032	Seckel Syndrome 6	18
1814		LNR010	Linear Lichen Planus	18
1815	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
1816	c	DNR004	Duane Retraction Syndrome 2	18
1817	c	PLY141	Polycystic Kidney Disease 5	18
1818		CRP036	Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	18
1819	c	INF079	Inflammatory Bowel Disease 20	18
1820	c	CTR157	Cataract 28	18
1821	c	CTR106	Cataract 20, Multiple Types	18
1822	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	18
1823	c	GLC079	Glaucoma 1, Open Angle, P	18
1824	c	CTR144	Cataract 43	18
1825		CRB155	Carbonic Anhydrase Va Deficiency	18
1826	c	CTR185	Cataract 30	18
1827	c	CTR160	Cataract 45	18
1828	c	CTR178	Cataract 27	17
1829		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	17
1830	c	INF067	Inflammatory Bowel Disease 10	17
1831	c	DWL003	Dowling-Degos Disease 2	17
1832	c	INF068	Inflammatory Bowel Disease 13	17
1833		PYR015	Pyridoxal 5'-Phosphate-Dependent Epilepsy	17
1834		ABS001	Absence of Fingerprints Congenital Milia	17
1835	c	GZP004	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2	16
1836	c	DPH016	Diaphragmatic Hernia 3	16
1837		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	16
1838	c	INF093	Inflammatory Bowel Disease 14	16
1839	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	15
1840	c	DWL004	Dowling-Degos Disease 4	15
1841	c	PTN012	Patent Ductus Arteriosus 3	15
1842	c	INF073	Inflammatory Bowel Disease 12	15
1843	c	INF080	Inflammatory Bowel Disease 21	15
1844	c	PTN013	Patent Ductus Arteriosus 2	15
1845	c	MRD001	Marden Walker Like Syndrome	15
1846	c	DPH025	Diaphragmatic Hernia 2	15
1847	c	INF047	Infantile Free Sialic Acid Storage Disease	15
1848	c	CTR128	Cataract 33	14
1849		ANP019	Anophthalmos with Limb Anomalies	14
1850	c	INF170	Inflammatory Bowel Disease 29	14
1851		DYT005	Dyt-Thap1	14
1852	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	14
1853		RGH003	Right Ventricle Hypoplasia	14
1854	c	DNT047	Dentinogenesis Imperfecta Type 2	14
1855	c	INF091	Inflammatory Bowel Disease 8	14
1856		ABS007	Absent Patella	14
1857		SCN061	Scn8a Encephalopathy	14
1858		BNG042	Benign Multicystic Peritoneal Mesothelioma	14
1859	c	TRS005	Torsion Dystonia with Onset in Infancy	14
1860	c	DWL005	Dowling-Degos Disease 3	13
1861		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	13
1862	c	GLC048	Glaucoma 1, Open Angle, I	13
1863	c	INF076	Inflammatory Bowel Disease 18	13
1864		OCL031	Oculo-Cerebral Dysplasia	13
1865	c	INF081	Inflammatory Bowel Disease 22	12
1866	c	INF083	Inflammatory Bowel Disease 24	12
1867	c	INF074	Inflammatory Bowel Disease 15	12
1868	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
1869	c	INF082	Inflammatory Bowel Disease 23	12
1870	c	INF085	Inflammatory Bowel Disease 27	12
1871	c	INF084	Inflammatory Bowel Disease 26	12
1872		MLP003	Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type	12
1873	c	DNT048	Dentinogenesis Imperfecta Type 3	12
1874		RRD001	Reardon Wilson Cavanagh Syndrome	11
1875	c	INF161	Inflammatory Bowel Disease 28	11
1876	c	TRS025	Torsion Dystonia 2	11
1877		DNM003	Daneman Davy Mancer Syndrome	11
1878		LYM044	Lymphocytic Infiltrate of Jessner	11
1879	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	11
1880		MN1002	Man1b1-Cdg	11
1881		ISL037	Isolated Anterior Cervical Hypertrichosis	11
1882		CHL110	Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency	11
1883		EPL008	Epilepsy Occipital Calcifications	10
1884	c	TRD001	Tardbp-Related Amyotrophic Lateral Sclerosis	10
1885	c	PRM246	Primary Tethered Cord Syndrome	10
1886		3LP002	3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency	10
1887	P	HRN027	Hernia, Anterior Diaphragmatic	10
1888	c	TRS027	Torsion Dystonia 4	9
1889		BRK005	Berk-Tabatznik Syndrome	9
1890	c	PLY176	Polycystic Kidney Disease 4	8
1891	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	8
1892	c	TRS028	Torsion Dystonia 17	7
1893	c	MLG021	Malignant Sertoli-Leydig Cell Tumor	7
1894		15Q006	15q13.3 Microduplication Syndrome	6
1895	c	MCL042	Macular Degeneration, Age-Related, 1	84
1896		PLM134	Pulmonary Fibrosis, Idiopathic	74
1897	c	MLT156	Multiple Endocrine Neoplasia, Type I	72
1898		WLS001	Wilson Disease	71
1899		CRZ001	Crouzon Syndrome	70
1900		APR006	Apert Syndrome	70
1901	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	69
1902		PRT058	Pure Autonomic Failure	66
1903	c	LNG044	Long Qt Syndrome 1	64
1904	P	CRN015	Cornelia De Lange Syndrome	64
1905	P	CLD001	Cleidocranial Dysplasia	63
1906		GTL001	Gitelman Syndrome	62
1907	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1908		CCC001	Coccidioidomycosis	61
1909		TRD006	Tardive Dyskinesia	61
1910		ZLL002	Zollinger-Ellison Syndrome	59
1911		SLC006	Silicosis	58
1912		PND002	Pendred Syndrome	57
1913	c	CRN139	Cornelia De Lange Syndrome 1	56
1914	c	TYR012	Tyrosinemia, Type I	56
1915		PSD014	Pseudopseudohypoparathyroidism	56
1916		BTN003	Biotinidase Deficiency	55
1917		DFF035	Diffuse Cutaneous Systemic Sclerosis	54
1918	P	PLG001	Pelger-Huet Anomaly	54
1919		FDB001	Foodborne Botulism	53