Rare Diseases Category (12608 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		INC002	Inclusion Body Myositis	63
2		SCH036	Scheie Syndrome	68
3	c	ART119	Arthrogryposis, Distal, Type 5	49
4	c	ART112	Arthrogryposis, Distal, Type 10	27
5	c	ART104	Arthrogryposis, Distal, Type 5d	26
6	c	ART122	Arthrogryposis, Distal, Type 8	24
7	c	ART128	Arthrogryposis, Distal, Type 6	23
8	c	ART131	Arthrogryposis, Distal, Type 4	22
9	c	ART060	Arthrogryposis, Distal, Type 1b	20
10	c	ART054	Arthrogryposis, Distal, Type 2e	16
11		SCH068	Schwartz-Jampel Syndrome, Type 1	52
12	c	MCP004	Mucopolysaccharidosis Iv	59
13	c	MCP047	Mucopolysaccharidosis, Type Iva	44
14	c	MCP051	Mucopolysaccharidosis, Type Ix	36
15	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	14
16		IGG007	Igg4-Related Disease	43
17		HMF006	Hemifacial Microsomia	58
18	P	DMN001	Diamond-Blackfan Anemia	69
19	c	DMN023	Diamond-Blackfan Anemia 1	46
20	c	DMN017	Diamond-Blackfan Anemia 10	26
21	c	DMN022	Diamond-Blackfan Anemia 9	25
22	c	DMN021	Diamond-Blackfan Anemia 6	25
23	c	DMN019	Diamond-Blackfan Anemia 4	23
24	c	DMN024	Diamond-Blackfan Anemia 7	23
25	c	DMN018	Diamond-Blackfan Anemia 5	22
26	c	DMN040	Diamond-Blackfan Anemia 16	22
27	c	DMN029	Diamond-Blackfan Anemia 11	22
28	c	DMN020	Diamond-Blackfan Anemia 8	21
29	c	DMN028	Diamond-Blackfan Anemia 12	20
30	c	DMN030	Diamond-Blackfan Anemia 13	18
31	c	DMN039	Diamond-Blackfan Anemia 17	18
32	c	DMN045	Diamond-Blackfan Anemia-Like	12
33		ABT001	Abetalipoproteinemia	63
34	c	PRG018	Paragangliomas 1	58
35	P	PRG013	Paraganglioma	56
36		JBR006	Joubert Syndrome with Oculorenal Anomalies	43
37	c	NNS018	Nonsyndromic Paraganglioma	27
38	c	PRG094	Paragangliomas 5	20
39	c	ORF040	Orofaciodigital Syndrome Viii	58
40		CRD002	Cri-Du-Chat Syndrome	47
41	c	ORF034	Orofaciodigital Syndrome Vi	42
42		WRF003	Warfarin Syndrome	31
43	c	ORF036	Orofaciodigital Syndrome Xiv	24
44	c	ORF046	Orofaciodigital Syndrome Xvi	23
45	c	ORF045	Orofaciodigital Syndrome Xv	22
46	c	ORF052	Orofaciodigital Syndrome Xviii	18
47	c	ORF051	Orofaciodigital Syndrome Xvii	18
48	c	ORF039	Orofaciodigital Syndrome Vii	15
49	P	GLL022	Guillain-Barre Syndrome	60
50		CHR629	Charcot-Marie-Tooth Disease and Deafness	42
51	c	GLL037	Guillain-Barre Syndrome, Familial	25
52		CNN003	Conn's Syndrome	71
53		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	39
54		NRM019	Neuraminidase Deficiency	46
55	P	DST002	Distal Arthrogryposis	56
56		FNC009	Fanconi-Bickel Syndrome	53
57		OPS006	Opsoclonus-Myoclonus Syndrome	49
58	P	MRR011	Mirror Movements 1	42
59	c	MRR010	Mirror Movements 2	15
60	c	MRR012	Mirror Movements 3	14
61	c	EPS042	Episodic Ataxia, Type 1	57
62	P	EPS003	Episodic Ataxia	56
63	P	EHL052	Ehlers-Danlos Syndrome, Vascular Type	55
64	c	ATM092	Autoimmune Polyendocrine Syndrome, Type Ii	47
65	P	ATM019	Autoimmune Polyendocrine Syndrome	47
66	c	EPS017	Episodic Ataxia, Type 6	37
67	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
68	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
69	c	EPS015	Episodic Ataxia, Type 7	30
70	c	EPS037	Episodic Ataxia, Type 4	30
71	c	EPS014	Episodic Ataxia, Type 3	22
72	c	EPS033	Episodic Ataxia, Type 8	22
73	c	EPS034	Episodic Ataxia, Type 5	20
74	c	EHL037	Ehlers-Danlos Syndrome, Vascular-Like Type	9
75	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
76		CRT072	Creutzfeldt-Jakob Disease	65
77		STR039	Sturge-Weber Syndrome	59
78		RBR001	Roberts Syndrome	55
79	P	HYP050	Hyperinsulinemic Hypoglycemia	54
80		WLF002	Wolf-Hirschhorn Syndrome	52
81		CHR635	Chromosome 5q Deletion Syndrome	52
82	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	48
83	c	ATM002	Autoimmune Polyendocrine Syndrome Type 1	46
84	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	44
85	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	35
86		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	34
87	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	33
88		ERL046	Early-Onset Generalized Dystonia	32
89		BRK012	Broken Heart Syndrome	31
90	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	29
91	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
92	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	25
93	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	23
94	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	16
95	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	16
96	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	16
97	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	12
98	P	INT143	Interstitial Cystitis	62
99		CPR004	Coproporphyria, Hereditary	56
100	P	DYS193	Dystonia 11, Myoclonic	51
101		CRN295	Carnitine Palmitoyltransferase I Deficiency	46
102	c	CHR020	Chronic Interstitial Cystitis	43
103	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	32
104		FBR064	Febrile Infection-Related Epilepsy Syndrome	30
105	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	26
106	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
107	c	DYS175	Dystonia 26, Myoclonic	18
108	c	DYS058	Dystonia 15, Myoclonic	17
109	P	TMP003	Temporal Arteritis	66
110		TNG002	Tangier Disease	64
111	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	60
112	c	SPN294	Spinocerebellar Ataxia 1	58
113		SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
114	c	EPS035	Episodic Ataxia, Type 2	54
115	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
116	c	OPT051	Opitz Gbbb Syndrome, Type I	47
117	P	CHN059	Chondrocalcinosis	46
118		PGT008	Paget Disease of Bone 5, Juvenile-Onset	45
119	P	OPT048	Opitz-Gbbb Syndrome	42
120	c	SPN265	Spinocerebellar Ataxia 36	42
121	c	OPT050	Opitz Gbbb Syndrome, Type Ii	41
122	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	40
123	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
124	P	LYD011	Leydig Cell Hypoplasia	35
125	c	SPN266	Spinocerebellar Ataxia 35	32
126	c	SPN095	Spinocerebellar Ataxia 19	31
127	c	LYD012	Leydig Cell Hypoplasia, Type I	31
128	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	31
129	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
130	c	CHN022	Chondrocalcinosis 2	30
131	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	28
132	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	28
133	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	27
134	c	SPN383	Spinocerebellar Ataxia 42	27
135	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
136	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	27
137	c	SPN284	Spinocerebellar Ataxia 38	27
138	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	26
139	c	SPN372	Spinocerebellar Ataxia 43	26
140	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
141	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
142	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
143	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	25
144	c	ORF041	Orofaciodigital Syndrome X	25
145	c	SPN323	Spinocerebellar Ataxia 41	23
146	c	SPN259	Spinocerebellar Ataxia 32	21
147	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	21
148	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	21
149	c	SPN420	Spinocerebellar Ataxia 46	21
150	c	SPN419	Spinocerebellar Ataxia 45	20
151	c	SPN418	Spinocerebellar Ataxia 44	20
152	c	SPN421	Spinocerebellar Ataxia 47	17
153	c	SPN336	Spinocerebellar Ataxia Type 16	17
154		PCD002	Pcdh19-Related Female-Limited Epilepsy	16
155	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	15
156	c	GRD008	Grid2-Related Spinocerebellar Ataxia	9
157	P	ALG028	Alagille Syndrome 1	73
158	P	FRG001	Fragile X Syndrome	69
159		LPT001	Leptospirosis	64
160	P	ALP009	Alopecia Areata	63
161		VLC001	Velocardiofacial Syndrome	63
162		LYS012	Lysosomal Acid Lipase Deficiency	60
163	P	CTC001	Catecholaminergic Polymorphic Ventricular Tachycardia	58
164	P	SPN301	Spinocerebellar Ataxia 2	56
165		MLT163	Multiple Pterygium Syndrome, Escobar Variant	51
166		MTC056	Mitochondrial Dna Depletion Syndrome 4a	51
167		SCR020	Sacral Defect with Anterior Meningocele	42
168		MLG120	Malignant Migrating Partial Seizures of Infancy	35
169	c	ORF035	Orofaciodigital Syndrome Iv	34
170	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	29
171	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	29
172	c	ALG016	Alagille Syndrome 2	27
173		MCL079	Macular Telangiectasia Type 2	26
174	c	ALP039	Alopecia Areata 1	25
175		PRX096	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum	23
176	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	21
177	c	ALP040	Alopecia Areata 2	14
178	c	ORF006	Orofaciodigital Syndrome 13	13
179	c	ATS404	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations	12
180	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
181	P	PLM037	Pulmonary Hypertension	75
182	c	PLM164	Pulmonary Hypertension, Primary, 1	66
183		WVR001	Weaver Syndrome	61
184		ORT008	Orotic Aciduria	49
185	c	PLM121	Pulmonary Hypertension, Primary, 4	25
186	c	PLM128	Pulmonary Hypertension, Primary, 2	23
187	c	PLM127	Pulmonary Hypertension, Primary, 3	23
188	c	PLM169	Pulmonary Hypertension, Primary, Autosomal Recessive	14
189	P	TYS001	Tay-Sachs Disease	71
190	P	GCH001	Gaucher's Disease	62
191		KRN002	Kearns-Sayre Syndrome	60
192		WLK001	Walker-Warburg Syndrome	59
193	c	ANM036	Anemia, Sideroblastic, 1	55
194	P	ERY053	Erythrokeratodermia Variabilis Et Progressiva 1	51
195	P	THR117	Three M Syndrome 1	51
196		DYS192	Dystonia, Dopa-Responsive	50
197		JCB001	Jacobsen Syndrome	50
198		JJN004	Jejunal Atresia	32
199		TRP006	Tarp Syndrome	30
200	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	29
201	c	GCH013	Gaucher Disease, Type Iiic	28
202	c	ORF033	Orofaciodigital Syndrome V	27
203	c	CNG418	Congenital Intrauterine Infection-Like Syndrome	26
204	c	ORF043	Orofaciodigital Syndrome Ix	24
205	c	THR096	Three M Syndrome 3	24
206	c	ORF042	Orofaciodigital Syndrome Xi	23
207	c	THR069	Three M Syndrome 2	23
208		SSR001	Ssr4-Cdg	22
209		ATY012	Atypical Mycobacteriosis, Familial	20
210	c	ATS210	Autosomal Recessive Sideroblastic Anemia	20
211	c	ANM034	Anemia, Sideroblastic, 4	20
212	c	ERY054	Erythrokeratodermia Variabilis Et Progressiva 2	19
213		XLN216	X-Linked Dystonia-Parkinsonism/lubag	18
214	c	ERY055	Erythrokeratodermia Variabilis Et Progressiva 3	17
215		HYP171	Hyperphenylalaninemia Due to Dehydratase Deficiency	17
216	c	ERY056	Erythrokeratodermia Variabilis Et Progressiva 4	16
217	c	PSD023	Pseudo-Gaucher Disease	14
218	c	TYS005	Tay-Sachs Disease, B1 Variant	14
219		CHR555	Chromosome 3p- Syndrome	13
220		CRN057	Carnitine Palmitoyltransferase I Deficiency , Muscle	12
221	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	8
222	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	8
223	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	8
224	c	ATS269	Autosomal Dominant Sideroblastic Anemia	6
225	P	JBR020	Joubert Syndrome 1	67
226	P	ADL010	Adult Respiratory Distress Syndrome	66
227		LSC001	Lesch-Nyhan Syndrome	62
228	P	CRN038	Carney Complex Variant	61
229		MTH078	Methylmalonic Aciduria, Cblb Type	61
230	c	ACT210	Acute Respiratory Distress Syndrome	61
231	P	INT001	Intrahepatic Cholestasis	60
232		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	60
233		ARG002	Argininosuccinic Aciduria	57
234		MTC007	Mitochondrial Complex I Deficiency	57
235	P	HYP097	Hyperekplexia	56
236		LKN001	Leukoencephalopathy with Vanishing White Matter	56
237	P	INF016	Infantile Epileptic Encephalopathy	54
238	c	SPN291	Spinocerebellar Ataxia 7	53
239		LKN025	Leukoencephalopathy, Hereditary Diffuse, with Spheroids	52
240	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	52
241		CHN055	Chanarin-Dorfman Syndrome	51
242	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	48
243	P	TYR004	Tyrosinemia	48
244	c	TYR013	Tyrosinemia, Type Ii	46
245		GNT020	Giant Congenital Nevus	46
246		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	45
247		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	41
248	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	41
249		BST007	Best Vitelliform Macular Dystrophy	41
250	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
251	c	ERL056	Early-Onset Parkinson's Disease	40
252		47X002	47,xyy	39
253	P	MCR241	Microphthalmia, Syndromic 3	38
254	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	37
255	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	35
256	c	PRK025	Parkinson Disease 10	35
257		SCR037	Sucrase-Isomaltase Deficiency, Congenital	33
258	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	32
259	c	PRK085	Parkinson Disease 1, Autosomal Dominant	31
260	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	30
261	c	JBR012	Joubert Syndrome 5	29
262	c	CRN243	Carney Complex, Type 1	29
263	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
264	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	27
265	c	PRK093	Parkinson Disease 8, Autosomal Dominant	27
266	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	26
267	c	HYP699	Hyperekplexia 1	26
268	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	26
269	c	JBR014	Joubert Syndrome 9	26
270	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	26
271	c	JBR031	Joubert Syndrome 21	25
272	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	25
273	c	PRK065	Parkinson Disease 20, Early-Onset	25
274	c	HRD173	Hereditary Late-Onset Parkinson Disease	25
275	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	24
276	c	JBR041	Joubert Syndrome 3	24
277	c	JBR024	Joubert Syndrome 14	24
278	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	24
279	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
280	c	MCR228	Microphthalmia, Syndromic 13	23
281	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	23
282	c	JBR042	Joubert Syndrome 23	23
283	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	23
284	c	JBR011	Joubert Syndrome 7	23
285	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
286	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
287	c	JBR037	Joubert Syndrome 26	23
288	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
289	c	JBR018	Joubert Syndrome 4	22
290	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	22
291	c	PRK052	Parkinson Disease 17	22
292	c	PRK070	Parkinson Disease 21	22
293	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	22
294	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	22
295	c	JBR015	Joubert Syndrome 6	22
296	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
297	c	JBR035	Joubert Syndrome 24	22
298	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	22
299	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	22
300	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	22
301	c	PRK091	Parkinson Disease 4, Autosomal Dominant	22
302	c	MCR217	Microphthalmia, Syndromic 11	22
303	c	JBR016	Joubert Syndrome 10	22
304	c	JBR030	Joubert Syndrome 22	22
305	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	22
306	c	JVN058	Juvenile-Onset Parkinson's Disease	21
307	c	PRK099	Parkinson Disease 18, Autosomal Dominant	21
308	c	JBR026	Joubert Syndrome 15	21
309	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	21
310	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	21
311	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	21
312	c	JBR025	Joubert Syndrome 17	21
313	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	21
314	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	21
315	c	JBR027	Joubert Syndrome 16	21
316	c	JBR021	Joubert Syndrome 18	21
317	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	21
318	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	20
319	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	20
320	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	20
321	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	20
322	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	20
323	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	20
324	c	JBR013	Joubert Syndrome 8	20
325	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	20
326	c	JBR036	Joubert Syndrome 25	20
327	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	20
328	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	20
329	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	20
330	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	20
331	c	PRK094	Parkinson Disease 11, Autosomal Dominant	20
332	c	HYP510	Hyperekplexia 2	20
333	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	20
334	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	20
335	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
336	c	JBR039	Joubert Syndrome 28	19
337	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	19
338	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	19
339	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	19
340	c	JBR022	Joubert Syndrome 20	19
341	c	JBR043	Joubert Syndrome 32	18
342	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	18
343	c	JBR028	Joubert Syndrome 13	18
344	c	JBR038	Joubert Syndrome 27	18
345	c	HYP519	Hyperekplexia 3	18
346	c	JBR040	Joubert Syndrome 30	18
347	c	JBR045	Joubert Syndrome 33	18
348		BLP010	Blepharophimosis Intellectual Disability Syndromes	17
349	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	17
350	c	PRK022	Parkinson Disease 12	17
351	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	17
352	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	16
353	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	16
354	c	JBR044	Joubert Syndrome 31	16
355	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	16
356	c	PRK083	Parkinson Disease 22, Autosomal Dominant	16
357	c	LRR001	Lrrk2-Related Parkinson Disease	16
358	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	16
359	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
360	c	HYP825	Hyperekplexia 4	15
361	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	15
362	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	15
363	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	15
364	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	14
365	c	SPR097	Sporadic Hyperekplexia	13
366	c	PRK058	Parkinson Disease 16	13
367	c	CRN298	Carney Complex, Type 2	13
368	c	ADL080	Adult Acute Respiratory Distress Syndrome	11
369	c	INF166	Infantile Epileptic Encephalopathy 55	9
370	c	INF169	Infantile Epileptic Encephalopathy 59	9
371	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
372	c	VPS003	Vps35-Related Parkinson Disease	8
373	c	INF165	Infantile Epileptic Encephalopathy 56	8
374	c	INF167	Infantile Epileptic Encephalopathy 57	8
375	c	INF168	Infantile Epileptic Encephalopathy 58	8
376		PFF001	Pfeiffer Syndrome	73
377	P	KRB001	Krabbe Disease	69
378	c	DNG003	Dengue Disease	68
379		BHC003	Behcet Syndrome	67
380		LGH007	Leigh Syndrome	67
381		MSM014	Mismatch Repair Cancer Syndrome	62
382	P	TWN003	Townes-Brocks Syndrome	58
383		CNV004	Canavan Disease	56
384	P	DNG005	Dengue Virus	55
385		GLC012	Galactosialidosis	53
386		BNN001	Bannayan-Riley-Ruvalcaba Syndrome	50
387		DRR016	Diarrhea 2, with Microvillus Atrophy	48
388		CHR594	Chromosome 3q29 Deletion Syndrome	46
389		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	42
390		GRN013	Greenberg Dysplasia	34
391	c	TWN011	Townes-Brocks Syndrome 1	32
392	c	INF122	Infantile Krabbe Disease	28
393		GGN004	Gigantomastia	26
394	c	TWN010	Townes-Brocks Syndrome 2	22
395	c	LTN017	Late-Infantile/juvenile Krabbe Disease	9
396	c	ADL071	Adult Krabbe Disease	9
397	P	TRN020	Turner Syndrome	68
398	c	GLY008	Glycogen Storage Disease Ii	64
399	c	MCL062	Mucolipidosis Ii Alpha/beta	63
400		PRP001	Propionic Acidemia	62
401	c	MCP024	Mucopolysaccharidosis Type Vi	62
402	P	GLY013	Glycogen Storage Disease	61
403		PGM001	Pigmented Villonodular Synovitis	53
404		MBS002	Moebius Syndrome	51
405	P	SJG002	Sjogren-Larsson Syndrome	51
406	P	MGL001	Megaloblastic Anemia	51
407	c	THN010	Thanatophoric Dysplasia, Type Ii	50
408		PPL049	Papillon-Lefevre Syndrome	50
409		BLL003	Bell's Palsy	49
410		GRS011	Gerstmann-Straussler Disease	48
411		ESN020	Eosinophilic Granulomatosis with Polyangiitis	47
412		RCR004	Recurrent Respiratory Papillomatosis	46
413	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	46
414	c	MGL018	Megaloblastic Anemia 1	42
415	c	GLY098	Glycogen Storage Disease, Type Ixd	40
416		NCR001	Necrotizing Ulcerative Gingivitis	38
417		CRN106	Corneal Dystrophy, Gelatinous Drop-Like	37
418		PLY030	Polydactyly Cleft Lip Palate Psychomotor Retardation	35
419	c	GLY023	Glycogen Storage Disease Type 0	34
420	c	MCL016	Mucolipidosis Iii Gamma	34
421	c	GLY044	Glycogen Storage Disease Ixc	31
422		PLM049	Plummer Vinson Syndrome	30
423	c	GLY057	Glycogen Storage Disease X	29
424	c	GLY017	Glycogen Storage Disease Ic	28
425		TMF001	Tumefactive Multiple Sclerosis	26
426	c	GLY097	Glycogen Storage Disease Ixb	26
427	c	GLY009	Glycogen Storage Disease Xv	26
428	c	ORF038	Orofaciodigital Syndrome Iii	25
429	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
430		OPH015	Ophn1 Syndrome	19
431	c	GLY093	Glycogen Storage Disease Ixa	17
432		PLL005	Pallister-Killian Mosaic Syndrome	14
433		ZLT002	Zlotogora Syndrome	13
434		XLN215	X-Linked Congenital Generalized Hypertrichosis	13
435		CRD019	Cardiocranial Syndrome	12
436	c	GLY001	Glycogen Storage Disease Ix	12
437	P	MTC003	Metachromatic Leukodystrophy	71
438	P	AMY004	Amyloidosis	68
439		SMT004	Smith-Lemli-Opitz Syndrome	68
440	c	HMP029	Hemophilia a	68
441	P	CWD001	Cowden Disease	67
442		PRT036	Peritonitis	66
443	P	MCH002	Machado-Joseph Disease	62
444		HLT001	Holt-Oram Syndrome	61
445		NRR002	Norrie Disease	61
446		PRP083	Porphyria, Acute Intermittent	61
447	P	HYP724	Hyperlipoproteinemia, Type Iii	58
448	c	GLY060	Glycogen Storage Disease Ia	57
449	c	ALM001	Al Amyloidosis	57
450		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	56
451		CNT105	Central Core Disease of Muscle	56
452	c	CWD006	Cowden Syndrome 1	55
453		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	53
454	c	CNG012	Congenital Generalized Lipodystrophy	50
455		CTY001	Cat Eye Syndrome	49
456	c	HYP740	Hyperlipoproteinemia, Type V	48
457	P	NML001	Nemaline Myopathy	47
458	c	SVR056	Severe Hemophilia a	47
459	P	ACQ022	Acquired Generalized Lipodystrophy	44
460	c	MYP072	Myopathy, Myofibrillar, 1	43
461		3BT001	3-Beta-Hydroxysteroid Dehydrogenase Deficiency	43
462	P	MYF003	Myofibrillar Myopathy	42
463	c	ART146	Arthrogryposis, Distal, Type 9	41
464	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	41
465		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	39
466		CHR174	Christianson Syndrome	39
467	c	MYP082	Myopathy, Myofibrillar, 2	38
468		FLR001	Filarial Elephantiasis	37
469	c	HYP768	Hyperlipoproteinemia, Type I	36
470	c	NML004	Nemaline Myopathy 3	33
471	c	MYP078	Myopathy, Myofibrillar, 3	32
472		MHR002	Mohr Syndrome	32
473	c	NML003	Nemaline Myopathy 2	31
474	c	MYP079	Myopathy, Myofibrillar, 5	31
475	c	NML002	Nemaline Myopathy 1	31
476	c	NML005	Nemaline Myopathy 4	31
477	c	PRV019	Periventricular Nodular Heterotopia 1	30
478	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	30
479	c	MYP080	Myopathy, Myofibrillar, 4	29
480		VRT007	Vertical Talus, Congenital	29
481	P	XLN161	X-Linked Chondrodysplasia Punctata	29
482	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
483	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
484	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
485		ISD002	Isodicentric Chromosome 15 Syndrome	27
486	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25
487	P	SCP010	Scapuloperoneal Myopathy	25
488	c	MYP081	Myopathy, Myofibrillar, 6	25
489		CHR524	Chromosome 16p13.3 Duplication Syndrome	25
490	c	SCP012	Scapuloperoneal Myopathy, Myh7-Related	25
491		STB002	Satb2-Associated Syndrome	25
492	c	CWD008	Cowden Syndrome 6	24
493		MLL009	Mullerian Aplasia	24
494	c	CWD004	Cowden Syndrome 5	24
495	c	MYP119	Myopathy, Myofibrillar, 7	23
496	c	NML007	Nemaline Myopathy 6	23
497	c	CWD007	Cowden Syndrome 3	22
498	c	NML022	Nemaline Myopathy 10	21
499	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	21
500	c	MYP118	Myopathy, Myofibrillar, 8	21
501		CNG114	Congenital Myasthenic Syndrome with Episodic Apnea	21
502	c	NML010	Nemaline Myopathy 7	21
503	c	NML025	Nemaline Myopathy 8	21
504	c	PRV018	Periventricular Nodular Heterotopia 7	21
505	c	NML021	Nemaline Myopathy 9	20
506	c	CWD009	Cowden Syndrome 7	20
507	c	PRM150	Primary Localized Amyloidosis	19
508	c	PRV016	Periventricular Nodular Heterotopia 6	19
509	c	HYP819	Hyperlipoproteinemia, Type Id	19
510	c	CWD003	Cowden Syndrome 2	19
511	c	CWD005	Cowden Syndrome 4	19
512		2MT001	2-Methyl-3-Hydroxybutyric Aciduria	18
513	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	17
514	c	AHM002	Ah Amyloidosis	15
515	c	CHN017	Chondrodysplasia Punctata 1, X-Linked	14
516	c	MCH012	Machado-Joseph Disease Type 1	9
517	c	MCH013	Machado-Joseph Disease Type 3	9
518	c	MCH014	Machado-Joseph Disease Type 2	9
519		FBR012	Fabry Disease	71
520		RFS006	Refsum Disease, Classic	62
521		KLP010	Klippel-Trenaunay-Weber Syndrome	60
522	P	ACR001	Aicardi-Goutieres Syndrome	56
523		HRL003	Hurler Syndrome	56
524	P	EPN002	Ependymoma	55
525	c	FRS014	Fraser Syndrome 1	51
526		SND002	Sneddon Syndrome	48
527		PST049	Postaxial Acrofacial Dysostosis	46
528		ACR058	Acrofacial Dysostosis 1, Nager Type	46
529	c	MLG064	Malignant Ependymoma	45
530		BLC001	Blue Cone Monochromacy	43
531	P	DNT009	Dentin Dysplasia	39
532	c	DNT027	Dentin Dysplasia, Type Ii	38
533	c	BNG030	Benign Ependymoma	33
534		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	31
535	c	ALB019	Albinism, Oculocutaneous, Type Iv	29
536	c	ALB020	Albinism, Oculocutaneous, Type Iii	29
537		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	29
538	c	ACR081	Aicardi-Goutieres Syndrome 6	28
539	c	ALB015	Albinism, Oculocutaneous, Type V	28
540	c	ACR084	Aicardi-Goutieres Syndrome 7	26
541	c	ALB017	Albinism, Oculocutaneous, Type Vi	25
542	c	ALB016	Albinism, Oculocutaneous, Type Vii	23
543	c	MLG023	Malignant Adult Ependymoma	20
544	c	FRS015	Fraser Syndrome 3	17
545	c	FRS016	Fraser Syndrome 2	15
546	P	FRS017	Fraser-Like Syndrome	13
547		NRL016	Neural Tube Defects	78
548	P	DYS007	Dyskeratosis Congenita	67
549		TKY002	Takayasu Arteritis	66
550		MCC012	Mccune-Albright Syndrome	64
551		FCT002	Factor Xi Deficiency	64
552	c	MCP050	Mucopolysaccharidosis, Type Ii	63
553		STH001	Saethre-Chotzen Syndrome	63
554		MCR013	Microphthalmia	60
555		BLS001	Blau Syndrome	59
556	P	CRD132	Cardiac Conduction Defect	59
557	P	PRM002	Primary Hyperoxaluria	53
558	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
559	P	CHR345	Chronic Pain	51
560	P	PRX021	Proximal Symphalangism	50
561		DNT005	Dentatorubral-Pallidoluysian Atrophy	50
562		HRP009	Herpes Simplex Encephalitis	50
563	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	48
564		LCH011	Lichen Planopilaris	48
565		RSS026	Roussy-Levy Hereditary Areflexic Dystasia	46
566		FRB001	Farber Lipogranulomatosis	46
567		TTZ003	Tietz Albinism-Deafness Syndrome	44
568	P	OTS002	Otospondylomegaepiphyseal Dysplasia	44
569	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	44
570	P	BRC015	Bruck Syndrome	44
571		BZX001	Bazex Syndrome	42
572	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	42
573	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
574	c	HYP794	Hyperoxaluria, Primary, Type I	41
575	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	41
576		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	40
577	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	39
578	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
579	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	37
580	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
581	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	37
582		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	37
583	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	37
584	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	37
585	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	37
586	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	37
587	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	37
588	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	36
589	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
590	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	36
591	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	36
592		HYP550	Hypomagnesemia 1, Intestinal	35
593	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
594	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	35
595	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	35
596	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	35
597		CRY032	Carey-Fineman-Ziter Syndrome	35
598	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	35
599	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
600	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	34
601	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	34
602	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	34
603	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
604	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	34
605	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	33
606	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	33
607	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	33
608	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
609	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	33
610	c	FML250	Familial Progressive Cardiac Conduction Defect	33
611	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	33
612	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	33
613	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
614	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	32
615	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
616	c	SPN101	Spinocerebellar Ataxia 29	32
617	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	32
618	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	31
619	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
620	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
621	P	SPS012	Spastic Paraplegia 3a	30
622	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
623	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	29
624		CNG064	Congenital Chloride Diarrhea	29
625	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	29
626	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	29
627	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
628		PHS010	Phosphoglycerate Mutase Deficiency	28
629	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
630	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
631	c	BRC047	Bruck Syndrome 1	28
632	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
633	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
634	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	27
635	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
636	c	HRD186	Hereditary Spastic Paraplegia 51	27
637	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	26
638	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
639	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	26
640	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
641	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
642	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	26
643	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	25
644	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	25
645	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	25
646	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
647	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	25
648		GNT018	Gianotti Crosti Syndrome	25
649	c	CNT068	Central Pain Syndrome	24
650	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	24
651	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	24
652		NVD003	Nevoid Hypermelanosis, Linear and Whorled	23
653	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	23
654	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	23
655	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	23
656	P	TRC031	Trichorhinophalangeal Syndrome	23
657	c	SYM022	Symphalangism, Proximal, 1a	22
658		NCR015	Necrotizing Autoimmune Myopathy	22
659	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	22
660	c	SPS020	Spastic Paraplegia 1	20
661	c	HRD188	Hereditary Spastic Paraplegia 72	19
662		MYC001	Myoclonic Cerebellar Dyssynergia	18
663		SCT004	Scott Bryant Graham Syndrome	17
664	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
665		ERL033	Early-Onset Parkinsonism-Intellectual Disability Syndrome	17
666		PLM069	Pulmonary Venous Return Anomaly	17
667	c	SYM019	Symphalangism, Proximal, 1b	16
668		DND017	Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures	14
669		CHR554	Chromosome 17q11.2 Deletion Syndrome	13
670	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	11
671	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	11
672	c	ATS186	Autosomal Recessive Spastic Paraplegia Type 68	11
673	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	11
674	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	11
675	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	11
676	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	11
677	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	11
678		CRH001	Crohn's Disease	78
679	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	65
680	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	62
681		STF001	Stiff-Person Syndrome	60
682		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	59
683		ACR008	Acrocallosal Syndrome	57
684	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	56
685	P	MLT074	Multiple Endocrine Neoplasia	55
686	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	52
687		ADN001	Adenosine Deaminase Deficiency	51
688	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	51
689	P	ADM011	Adams-Oliver Syndrome	51
690		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	51
691	P	NLD001	Nail Disease	50
692	P	FML035	Familial Hyperlipidemia	47
693	c	ART061	Arthrogryposis, Distal, Type 2a	45
694		TLR001	Tularemia	44
695		CRY001	Cryptogenic Organizing Pneumonia	44
696	P	AMY084	Amyloidosis, Finnish Type	43
697		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	42
698	P	BLP047	Blepharocheilodontic Syndrome 1	42
699	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	40
700	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	38
701		KKC001	Kikuchi Disease	37
702	c	ADM005	Adams-Oliver Syndrome 1	36
703	c	MLG147	Malignant Hyperthermia 1	36
704		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	35
705		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	34
706	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	34
707	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
708	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	32
709		CHL109	Childhood Apraxia of Speech	32
710		CRN141	Corneal Dystrophy, Reis-Bucklers Type	32
711	P	EHL081	Ehlers-Danlos Syndrome, Classic-Like	31
712		7Q1002	7q11.23 Duplication Syndrome	31
713		ATX019	Ataxia with Vitamin E Deficiency	31
714		FRS007	Frias Syndrome	29
715		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	29
716		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	29
717	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	28
718	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	28
719	c	ADM007	Adams-Oliver Syndrome 2	27
720	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	26
721	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	26
722	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	26
723	c	ADM010	Adams-Oliver Syndrome 5	26
724	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
725	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
726	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	25
727	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
728	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
729	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	24
730	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	23
731	c	FML249	Familial Amyloidosis, Finnish Type	23
732		ART037	Arthrogryposis and Ectodermal Dysplasia	22
733	c	ADM009	Adams-Oliver Syndrome 4	21
734	c	ADM012	Adams-Oliver Syndrome 6	21
735		IMM096	Immunodeficiency 30	21
736		PNT003	Pinta Disease	21
737	c	ADM008	Adams-Oliver Syndrome 3	20
738	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
739	c	HYP163	Hyperlipidemia Type 3	18
740	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	17
741	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	16
742	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	16
743	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	16
744	c	BLP049	Blepharocheilodontic Syndrome 2	16
745		MCR265	Macrozoospermia	14
746		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	13
747		ATS309	Autosomal Dominant Leukodystrophy with Autonomic Disease	13
748	c	ORF005	Orofaciodigital Syndrome 12	13
749		FBX003	Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	12
750	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
751		SLC027	Slc35a2-Cdg	8
752		MTH067	Methylmalonic Acidemia with Homocystinuria Type Cblj	7
753	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	6
754	P	CMR001	Camurati-Engelmann Disease	61
755	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	59
756	P	HYP756	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	56
757		PRP082	Porphyria, Congenital Erythropoietic	55
758	P	SMP003	Simpson-Golabi-Behmel Syndrome	55
759		ARS001	Aarskog-Scott Syndrome	54
760		CCH002	Coach Syndrome	50
761	P	PLM006	Pulmonary Alveolar Proteinosis	49
762		DYS022	Dyschromatosis Symmetrica Hereditaria	49
763	c	GRS014	Griscelli Syndrome, Type 2	49
764	c	MCR256	Microphthalmia, Syndromic 9	46
765	P	FNG006	Feingold Syndrome 1	45
766	c	3MT015	3-Methylglutaconic Aciduria, Type I	44
767		ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	43
768	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	41
769		HRL004	Hurler-Scheie Syndrome	40
770		GRD009	Gordon Holmes Syndrome	38
771	P	3MT007	3-Methylglutaconic Aciduria	37
772	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	36
773	c	RTS003	Ritscher-Schinzel Syndrome 1	36
774	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
775		CHN057	Chondrodysplasia, Grebe Type	36
776		SLT005	Solitary Median Maxillary Central Incisor	34
777		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	33
778	c	HYP373	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive	33
779		ISC016	Ischiocoxopodopatellar Syndrome	31
780	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	28
781	P	RTS001	Ritscher-Schinzel Syndrome	28
782	c	MCR245	Microphthalmia, Syndromic 8	27
783	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	27
784		MNT006	Manitoba Oculotrichoanal Syndrome	26
785	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	26
786	c	FNG009	Feingold Syndrome 2	22
787	c	RTS002	Ritscher-Schinzel Syndrome 2	21
788	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	18
789	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	16
790		INS024	Insulin-Like Growth Factor I	82
791	P	LPS004	Lupus Erythematosus	68
792	c	NMN015	Niemann-Pick Disease, Type C1	68
793	P	AGM019	Agammaglobulinemia, X-Linked	68
794		SND001	Sandhoff Disease	64
795	c	MCP049	Mucopolysaccharidosis, Type Vii	63
796	P	KLL001	Kallmann Syndrome	63
797		RHB001	Rhabdoid Cancer	62
798		BLM001	Bloom Syndrome	60
799	c	USH036	Usher Syndrome, Type I	60
800		CHK001	Chikungunya	59
801		WLF001	Wolff-Parkinson-White Syndrome	59
802		ICH054	Ichthyosis, X-Linked	58
803		WST001	West Syndrome	57
804	c	MYT020	Myotonic Dystrophy 2	56
805		ALK013	Alkaptonuria	56
806	P	ACT010	Acth-Secreting Pituitary Adenoma	55
807	P	TRC086	Trichohepatoenteric Syndrome 1	54
808		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
809		SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	53
810		BRD025	Birdshot Chorioretinopathy	51
811		MLT113	Multicentric Castleman Disease	51
812		HYP691	Hypomelanosis of Ito	51
813		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	51
814		DNN001	Danon Disease	48
815	P	PRM001	Primary Cutaneous Amyloidosis	48
816		LKC005	Leukocyte Adhesion Deficiency, Type Iii	48
817	P	NNT009	Neonatal Diabetes Mellitus	48
818		HPT025	Hepatic Lipase Deficiency	47
819		ANT024	Anthrax Disease	47
820	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	47
821		KRT010	Kartagener Syndrome	46
822	c	USH021	Usher Syndrome, Type Iid	46
823	c	ALB021	Albinism, Oculocutaneous, Type Ii	45
824	P	MLT072	Multiple Synostoses Syndrome	45
825	c	USH035	Usher Syndrome Type 2	45
826	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	45
827		FSH001	Fish-Eye Disease	45
828	c	ART144	Arthrogryposis, Distal, Type 1a	44
829		HTR003	Heterotaxy	44
830		KDS001	Kid Syndrome	43
831	c	ANT077	Anterior Segment Dysgenesis 1	42
832		MTC054	Mitochondrial Dna Depletion Syndrome 7	41
833		PST020	Postpoliomyelitis Syndrome	41
834		UNV001	Unverricht-Lundborg Syndrome	41
835	c	USH040	Usher Syndrome, Type Id	41
836	c	USH039	Usher Syndrome, Type Ic	41
837	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
838	c	USH020	Usher Syndrome, Type Iic	40
839	P	KLN006	Koolen-De Vries Syndrome	39
840		STV003	Stuve-Wiedemann Syndrome	39
841	c	OTP007	Otopalatodigital Syndrome, Type Ii	38
842		CRN247	Corneal Dystrophy, Thiel-Behnke Type	38
843	c	ANT071	Anterior Segment Dysgenesis 4	37
844	c	USH042	Usher Syndrome, Type Ig	36
845	c	USH041	Usher Syndrome, Type if	36
846	c	SYS061	Systemic Lupus Erythematosus 16	35
847	c	TRC078	Trichohepatoenteric Syndrome 2	34
848		PRM057	Paramyotonia Congenita of Von Eulenburg	34
849	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	32
850	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	32
851		OCL034	Oculocerebrocutaneous Syndrome	32
852	c	MCR251	Microphthalmia, Syndromic 6	30
853		RCH002	Richards-Rundle Syndrome	29
854	c	CNG133	Congenital Varicella Syndrome	29
855	c	USH031	Usher Syndrome, Type Ij	28
856	c	MLT059	Multiple Synostoses Syndrome 1	28
857	c	USH030	Usher Syndrome, Type Ik	28
858	c	ANT084	Anterior Segment Dysgenesis 3	27
859	c	GLY043	Glycogen Storage Disease Xii	27
860	c	USH044	Usher Syndrome, Type Iiib	26
861		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	26
862	P	PRD037	Periodontal Ehlers-Danlos Syndrome	25
863		HYP180	Hypertrichosis Lanuginosa Congenita	25
864	c	SYS043	Systemic Lupus Erythematosus 1	25
865		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	25
866		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	25
867	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	24
868	c	ANT085	Anterior Segment Dysgenesis 5	24
869	c	ANT083	Anterior Segment Dysgenesis 7	24
870		GRD004	Gardner-Diamond Syndrome	23
871		SHP004	Shprintzen Omphalocele Syndrome	22
872		LMB014	Limb-Body Wall Complex	21
873		XLN162	X-Linked Intellectual Disability, Najm Type	21
874	c	MLT078	Multiple Synostoses Syndrome 3	21
875	c	SYS038	Systemic Lupus Erythematosus 2	21
876	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	20
877		CHR416	Chromosome 17q Deletion	19
878	c	USH043	Usher Syndrome, Type Ih	18
879		ACT160	Actinic Lichen Planus	18
880	c	ANT087	Anterior Segment Dysgenesis 6	18
881	c	ANT067	Anterior Segment Dysgenesis 8	18
882	c	SYS046	Systemic Lupus Erythematosus 3	18
883	c	SYS069	Systemic Lupus Erythematosus 6	17
884	c	SYS053	Systemic Lupus Erythematosus 5	17
885	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
886	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	16
887		17Q011	17q12 Duplication	15
888	c	SYS041	Systemic Lupus Erythematosus 9	15
889	c	SYS040	Systemic Lupus Erythematosus 10	15
890	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
891	c	SYS065	Systemic Lupus Erythematosus 11	14
892		FRL002	Froelich Syndrome	14
893	P	OTP002	Otopalatodigital Spectrum Disorders	14
894	c	SYS055	Systemic Lupus Erythematosus 12	13
895	c	MLT166	Multiple Synostoses Syndrome 4	13
896	c	SYS051	Systemic Lupus Erythematosus 4	13
897	c	SYS047	Systemic Lupus Erythematosus 7	13
898	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	12
899	c	SYS048	Systemic Lupus Erythematosus 8	11
900	c	SYS052	Systemic Lupus Erythematosus 13	11
901	c	SYS045	Systemic Lupus Erythematosus 14	11
902	c	SYS067	Systemic Lupus Erythematosus 15	10
903	c	USH011	Usher Syndrome, Type 2b	10
904	P	VRC007	Varicella, Severe Recurrent	8
905	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
906	P	ATX030	Ataxia-Telangiectasia	79
907	P	HYD006	Hydrocephalus	69
908	c	MYT021	Myotonic Dystrophy 1	68
909	P	MCL013	Mucolipidosis Iv	67
910		CNR004	Cone-Rod Dystrophy 2	67
911		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	64
912	P	LBR001	Leber Congenital Amaurosis	64
913		HSH003	Hashimoto Thyroiditis	63
914		ERY003	Erythema Multiforme	60
915	P	FCL005	Focal Segmental Glomerulosclerosis	59
916	P	MLG056	Malignant Hyperthermia	59
917	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	59
918	c	FCL025	Focal Segmental Glomerulosclerosis 1	59
919		PTT048	Pituitary Adenoma, Prolactin-Secreting	57
920	P	PLY006	Polydactyly	57
921	P	ANG015	Angioedema	57
922	c	HRD002	Hereditary Angioedema	56
923		CTR172	Citrullinemia, Classic	55
924		NLP001	Nail-Patella Syndrome	55
925	c	GLY004	Glycogen Storage Disease V	54
926	c	CRP023	Carpenter Syndrome 1	54
927		FTL009	Fetal Akinesia Deformation Sequence	53
928		BRT002	Birt-Hogg-Dube Syndrome	53
929		CRN239	Carnitine Deficiency, Systemic Primary	53
930		CLS005	Clouston Syndrome	52
931		PRN011	Pernicious Anemia	50
932	c	LBR014	Leber Congenital Amaurosis 4	49
933	c	ANG068	Angioedema, Hereditary, Type I	49
934	c	CHR037	Chronic Eosinophilic Pneumonia	48
935		OST022	Osteopathia Striata with Cranial Sclerosis	47
936	c	ALZ056	Alzheimer Disease 3	47
937	c	LBR012	Leber Congenital Amaurosis 2	46
938		BTY001	Butyrylcholinesterase Deficiency	46
939	c	WRD020	Waardenburg Syndrome, Type 4a	45
940		BLS007	Blastic Plasmacytoid Dendritic Cell	45
941	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	44
942	P	VTL001	Vitelliform Macular Dystrophy	42
943	c	MCL066	Macular Dystrophy, Vitelliform, 2	42
944		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	41
945	c	ALZ054	Alzheimer Disease 4	41
946	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	41
947	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	41
948	c	ALB009	Albinism, Oculocutaneous, Type Ia	41
949	c	MCR263	Microphthalmia, Syndromic 1	40
950		GNC003	Geniculate Herpes Zoster	40
951	c	LBR019	Leber Congenital Amaurosis 9	39
952		TRP009	Triple X Syndrome	39
953	P	BLN001	Blount's Disease	39
954		LYS021	Loeys-Dietz Syndrome 3	38
955	c	LBR004	Leber Congenital Amaurosis 1	38
956	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	38
957	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	38
958	c	MCL060	Macular Dystrophy, Vitelliform, 3	38
959	c	ERL006	Early-Onset Familial Alzheimer Disease	38
960	P	ANT088	Anterior Segment Dysgenesis	38
961	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	38
962	c	ALZ050	Alzheimer Disease 5	37
963	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	37
964	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	37
965	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
966		DNS007	Dense Deposit Disease	37
967	c	BRT038	Baraitser-Winter Syndrome 1	36
968		PHC004	Phace Syndrome	36
969		CRN237	Corneal Dystrophy, Avellino Type	36
970		DFF021	Diffuse Mesangial Sclerosis	36
971	c	WRD024	Waardenburg Syndrome, Type 4c	35
972	P	BRT040	Baraitser-Winter Syndrome	35
973	c	LBR007	Leber Congenital Amaurosis 12	35
974	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	35
975	P	PRS013	Prosopagnosia	34
976	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	34
977		RSP007	Respiratory Distress Syndrome, Infant	34
978		SPS016	Spasmodic Dysphonia	34
979	c	LBR011	Leber Congenital Amaurosis 16	34
980	c	HYD060	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	33
981		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	33
982	c	WRD010	Waardenburg Syndrome Type 4	32
983	c	LBR005	Leber Congenital Amaurosis 10	31
984	c	LBR013	Leber Congenital Amaurosis 3	31
985	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	30
986	c	LBR018	Leber Congenital Amaurosis 8	30
987	c	WRD019	Waardenburg Syndrome, Type 4b	29
988		GMZ002	Gomez-Lopez-Hernandez Syndrome	29
989	c	HYD043	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2	29
990		CHR523	Chromosome 15q11.2 Deletion Syndrome	29
991	c	BRT039	Baraitser-Winter Syndrome 2	29
992	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	29
993		DTH005	Diethylstilbestrol Syndrome	28
994	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28
995	c	ALZ062	Alzheimer Disease 19	28
996	c	LBR016	Leber Congenital Amaurosis 6	28
997	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	27
998		CHR209	Chromosome 17p Duplication	27
999	c	LBR009	Leber Congenital Amaurosis 14	27
1000	c	CRP022	Carpenter Syndrome 2	27
1001		WGN003	Wagner Syndrome	27
1002		WYB001	Wyburn Mason's Syndrome	27
1003	c	SPS092	Spastic Paraplegia 11	26
1004		MTH077	Methylmalonic Aciduria, Cbla Type	26
1005	c	LBR015	Leber Congenital Amaurosis 5	26
1006	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
1007	c	ANG045	Angioedema, Hereditary, Type Iii	25
1008		DSS025	Dissociative Seizures	25
1009		CMP017	Camptocormism	25
1010		ADN077	Adenosine Deaminase 2 Deficiency	25
1011	c	ALZ002	Alzheimer Disease Type 1	25
1012	c	LBR008	Leber Congenital Amaurosis 13	24
1013	c	PRG021	Paragangliomas 4	24
1014	c	ALZ016	Alzheimer Disease 8	23
1015	c	ALZ015	Alzheimer Disease 6	23
1016	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
1017		CDK006	Cdkl5 Deficiency Disorder	23
1018	c	LBR010	Leber Congenital Amaurosis 15	23
1019	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	23
1020	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	23
1021	c	FCL082	Focal Segmental Glomerulosclerosis 4	22
1022	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	22
1023	c	ALZ045	Alzheimer Disease 9	21
1024		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	21
1025	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	21
1026	c	WRD022	Waardenburg Syndrome, Type 2d	21
1027	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	21
1028	c	FCL043	Focal Segmental Glomerulosclerosis 6	21
1029	c	ICH014	Ichthyosis Lamellar 1	21
1030	c	FCL027	Focal Segmental Glomerulosclerosis 3	20
1031	c	ALZ057	Alzheimer Disease 10	20
1032	c	LBR029	Leber Congenital Amaurosis 17	20
1033	c	FCL028	Focal Segmental Glomerulosclerosis 5	20
1034	c	ALZ012	Alzheimer Disease 12	20
1035	c	FCL085	Focal Segmental Glomerulosclerosis 7	20
1036	c	ALZ053	Alzheimer Disease 7	20
1037		ATM061	Autoimmune Polyglandular Syndrome Type 3	20
1038		5Q1001	5q14.3 Microdeletion Syndrome	19
1039	c	ALZ060	Alzheimer Disease 14	19
1040	c	LBR017	Leber Congenital Amaurosis 7	19
1041	c	FCL053	Focal Segmental Glomerulosclerosis 8	19
1042	c	MCL061	Macular Dystrophy, Vitelliform, 4	19
1043	c	FCL026	Focal Segmental Glomerulosclerosis 2	19
1044	c	LBR006	Leber Congenital Amaurosis 11	18
1045	c	FCL055	Focal Segmental Glomerulosclerosis 9	18
1046	c	PRS058	Prosopagnosia, Hereditary	18
1047	c	MCL056	Macular Dystrophy, Vitelliform, 5	18
1048	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
1049	c	HYD042	Hydrocephalus, Autosomal Dominant	18
1050	c	ALZ059	Alzheimer Disease 13	17
1051	c	WRD026	Waardenburg Syndrome, Type 2c	17
1052	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	17
1053	c	ALZ032	Alzheimer Disease 18	17
1054		OMP007	Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex	17
1055	c	ALZ058	Alzheimer Disease 11	17
1056	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	17
1057	c	ALZ061	Alzheimer Disease 15	16
1058		MCN024	Mucin-1 Kidney Disease	16
1059	c	ALZ031	Alzheimer Disease 17	15
1060	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
1061	c	CNT108	Central Polydactyly	15
1062	c	ALZ014	Alzheimer Disease 16	15
1063	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	14
1064	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	14
1065	c	BLN020	Blount Disease, Infantile	14
1066	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	13
1067	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
1068	c	ACQ036	Acquired Angioedema Type 2	11
1069		SCN063	Scn2a Related Disorders	11
1070	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
1071	c	PMP012	Pmp2-Related Charcot-Marie-Tooth Disease Type 1	10
1072	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
1073	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
1074	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
1075	c	CHR571	Charcot-Marie-Tooth Disease Type 5	10
1076	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
1077	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
1078		PGM026	Pgm3-Cdg	8
1079		NFK002	Nf-Kappa B Essential Modulator Deficiency	7
1080	c	ACQ035	Acquired Angioedema Type 1	7
1081		CNT097	Central Hypoventilation Syndrome, Congenital	64
1082		LWC002	Lowe Oculocerebrorenal Syndrome	61
1083		NTH001	Netherton Syndrome	60
1084		AND019	Andersen Cardiodysrhythmic Periodic Paralysis	59
1085	P	OCL013	Oculodentodigital Dysplasia	57
1086	P	ACH003	Achromatopsia	56
1087	c	GLY003	Glycogen Storage Disease Iii	55
1088		MCK005	Mckusick-Kaufman Syndrome	54
1089		DNY001	Denys-Drash Syndrome	53
1090		NDL013	Nodular Regenerative Hyperplasia	52
1091		BRT005	Barth Syndrome	51
1092		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	50
1093	c	FBR084	Fibromatosis, Gingival, 1	50
1094	P	GNG025	Gingival Fibromatosis	48
1095		KMR001	Kimura Disease	48
1096		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	47
1097		FRY006	Fryns Microphthalmia Syndrome	45
1098	c	LKD010	Leukodystrophy, Hypomyelinating, 2	45
1099		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	44
1100	c	LSS005	Lissencephaly 1	43
1101	P	BRY005	Beryllium Disease	43
1102	c	CHR576	Chronic Beryllium Disease	43
1103		ALV006	Alveolar Capillary Dysplasia	42
1104		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	41
1105	c	LKD019	Leukodystrophy, Hypomyelinating, 6	41
1106		GLC022	Glucose/galactose Malabsorption	41
1107	c	ACH020	Achromatopsia 2	40
1108	c	MCR261	Microphthalmia, Syndromic 2	39
1109		LPM010	Lipomatosis, Multiple Symmetric	39
1110	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
1111	P	MRN003	Marinesco-Sjogren Syndrome	37
1112		MLG141	Malignant Atrophic Papulosis	37
1113		LRN006	Laurin-Sandrow Syndrome	36
1114		INT088	Intrinsic Factor Deficiency	35
1115	c	WRD031	Waardenburg Syndrome, Type 3	34
1116	c	DNT051	Dentin Dysplasia, Type I	33
1117	c	ACH023	Achromatopsia 4	32
1118	P	HYP700	Hypomyelinating Leukodystrophy	31
1119	c	LSS010	Lissencephaly 4	30
1120		SCL022	Scleredema	28
1121		MSM016	Mesomelic Dysplasia, Kantaputra Type	27
1122		BLN004	Balantidiasis	27
1123		PRF003	Piriformis Syndrome	26
1124	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
1125		LRY026	Laryngeal Cleft	26
1126	c	LKD022	Leukodystrophy, Hypomyelinating, 13	25
1127		BLP041	Blepharochalasis and Double Lip	25
1128		SHP003	Shapiro Syndrome	25
1129	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
1130	c	LSS025	Lissencephaly 5	24
1131	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
1132	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
1133	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
1134		GLT014	Glutathionuria	23
1135	c	LSS009	Lissencephaly 3	22
1136	c	ACH038	Achromatopsia 7	21
1137	c	LSS035	Lissencephaly 8	21
1138	c	LKD027	Leukodystrophy, Hypomyelinating, 14	17
1139	c	LKD028	Leukodystrophy, Hypomyelinating, 15	17
1140	c	LKD030	Leukodystrophy, Hypomyelinating, 17	17
1141	c	LKD029	Leukodystrophy, Hypomyelinating, 16	15
1142	c	FBR092	Fibromatosis, Gingival, 5	15
1143	P	WSK001	Wiskott-Aldrich Syndrome	77
1144		ACR006	Aceruloplasminemia	73
1145		BRC012	Brucellosis	70
1146		ANG054	Angina Pectoris	66
1147	P	FRD012	Friedreich Ataxia 1	64
1148		BLL006	Bullous Pemphigoid	63
1149		NRL005	Neurilemmoma	63
1150		WLL001	Williams-Beuren Syndrome	63
1151	P	CCK001	Cockayne Syndrome	63
1152		MNK001	Menkes Disease	63
1153	P	NRC002	Narcolepsy	63
1154	P	HML002	Hemolytic Anemia	62
1155		BRG013	Buerger Disease	62
1156	P	SHW006	Shwachman-Diamond Syndrome 1	62
1157	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1158		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
1159	c	MCP001	Mucopolysaccharidosis Iii	60
1160	P	ANT006	Antiphospholipid Syndrome	59
1161	c	ANM038	Anemia, Autoimmune Hemolytic	59
1162	c	EPL209	Epilepsy, Idiopathic Generalized 10	59
1163	P	USH001	Usher Syndrome	58
1164		LMB002	Lambert-Eaton Myasthenic Syndrome	57
1165	P	EPL140	Epilepsy, Idiopathic Generalized	57
1166	P	ZLL001	Zellweger Syndrome	56
1167		ASP002	Aspartylglucosaminuria	56
1168		DBN001	Dubin-Johnson Syndrome	55
1169		MTC097	Mitochondrial Complex Iv Deficiency	54
1170	c	CCK007	Cockayne Syndrome B	51
1171		SHH001	Sheehan Syndrome	50
1172		PLN006	Poland Syndrome	50
1173	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	49
1174	c	CCK008	Cockayne Syndrome a	48
1175		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	47
1176	c	TRC092	Trichorhinophalangeal Syndrome, Type I	47
1177	P	PSD003	Pseudohypoaldosteronism	47
1178	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	46
1179		MDL009	Medullary Sponge Kidney	45
1180		OPT054	Opitz-Kaveggia Syndrome	45
1181		SHR098	Short-Rib Thoracic Dysplasia 12	45
1182		ACR013	Acrodysostosis	45
1183		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	45
1184		ENC055	Encephalopathy, Ethylmalonic	45
1185		PRX015	Paroxysmal Extreme Pain Disorder	44
1186	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1187		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	44
1188		DNR002	Duane-Radial Ray Syndrome	43
1189		ACT055	Actinomycosis	43
1190	P	TRM004	Trimethylaminuria	42
1191	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	42
1192		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	41
1193		ALP077	Alpha-Methylacetoacetic Aciduria	41
1194		GRN022	Granulosa Cell Tumor of the Ovary	41
1195		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	41
1196	c	HMC035	Hemochromatosis, Type 4	40
1197	c	HMC021	Hemochromatosis, Type 2a	40
1198		MTH064	Methemoglobinemia, Beta-Globin Type	39
1199		HTR014	Heterotaxy, Visceral, 1, X-Linked	38
1200	P	ATL001	Atelosteogenesis	38
1201	c	HYP602	Hyperoxaluria, Primary, Type Ii	37
1202	c	OTP006	Otopalatodigital Syndrome, Type I	36
1203		DNC004	Diencephalic Syndrome	36
1204	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	36
1205		LCL022	Localized Lipodystrophy	36
1206	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	34
1207		AMY098	Amyotrophy, Monomelic	34
1208		SRN002	Sirenomelia	34
1209		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	34
1210	c	ATL015	Atelosteogenesis, Type Ii	33
1211		PPC001	Pepck 1 Deficiency	33
1212	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	33
1213		PNT005	Pentalogy of Cantrell	33
1214		BJR001	Bjornstad Syndrome	32
1215	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	32
1216	c	PSD090	Pseudohypoaldosteronism, Type Iia	32
1217	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	32
1218	c	ZLL011	Zellweger Spectrum Disorder	32
1219		GRC001	Gracile Syndrome	31
1220	P	SNG014	Singleton-Merten Syndrome	31
1221		TTR025	Tetraamelia Syndrome, Autosomal Recessive	31
1222	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	31
1223		HMF010	Hemifacial Microsomia with Radial Defects	31
1224	c	SPS031	Spastic Paraplegia 23	31
1225	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
1226		OCL016	Ocular Albinism, X-Linked	30
1227	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	30
1228		PPL059	Popliteal Pterygium Syndrome, Lethal Type	30
1229		PRT055	Prieto X-Linked Mental Retardation Syndrome	29
1230	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	29
1231	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1232		49X001	49, Xxxxx	29
1233	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	29
1234	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	28
1235	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	28
1236		LGH003	Leigh Syndrome, French Canadian Type	28
1237		SPR031	Sprengel Deformity	28
1238		ATS270	Autosomal Dominant Café Au Lait Spots	28
1239		TTR013	Tetrasomy X	28
1240	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	28
1241	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	27
1242	c	WSK002	Wiskott-Aldrich Syndrome 2	27
1243		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	27
1244		CHR229	Chromosome 20p Duplication	27
1245	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	27
1246		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
1247	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	27
1248	c	SNG011	Singleton-Merten Syndrome 1	27
1249	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	26
1250		VNF001	Vein of Galen Aneurysm	26
1251		CHR212	Chromosome 18p Duplication	26
1252	c	NML006	Nemaline Myopathy 5	26
1253		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	26
1254		VSC049	Visceral Myopathy, Familial, with External Ophthalmoplegia	25
1255	c	PLY149	Polydactyly, Preaxial Iv	25
1256		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	25
1257	c	PSD093	Pseudohypoaldosteronism, Type Iid	24
1258		SRP002	Serpiginous Choroiditis	24
1259	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	24
1260	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	24
1261		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
1262	c	NRC009	Narcolepsy 1	23
1263	c	JVN019	Juvenile Temporal Arteritis	23
1264		INT277	Intellectual Disability-Developmental Delay-Contractures Syndrome	23
1265		MCR067	Microcoria, Congenital	23
1266	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	23
1267		MTP004	Metaphyseal Acroscyphodysplasia	23
1268	c	HMC019	Hemochromatosis, Type 2b	23
1269	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	22
1270		PRS053	Parsonage Turner Syndrome	22
1271	c	FRD006	Friedreich Ataxia 2	22
1272		PRX086	Paroxysmal Exertion-Induced Dyskinesia	22
1273	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
1274	c	PLY136	Polydactyly, Preaxial I	21
1275	c	APR009	Aprosencephaly Syndrome	21
1276		LRB003	Lrba Deficiency	21
1277	c	PRK008	Parkinson Disease Type 9	20
1278	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	20
1279	c	EPL093	Epilepsy, Idiopathic Generalized 7	20
1280	c	EPL084	Epilepsy, Idiopathic Generalized 11	20
1281	c	EPL086	Epilepsy, Idiopathic Generalized 9	20
1282	c	PSD068	Pseudohypoaldosteronism, Type Iic	18
1283	P	JVN024	Juvenile Hereditary Hemochromatosis	18
1284	c	PSD094	Pseudohypoaldosteronism, Type Iib	18
1285	c	SNG012	Singleton-Merten Syndrome 2	18
1286	c	EPL098	Epilepsy, Idiopathic Generalized 12	18
1287	c	NRC017	Narcolepsy 7	18
1288	c	ANT041	Antiphospholipid Syndrome, Familial	18
1289	c	EPL165	Epilepsy, Idiopathic Generalized 14	17
1290	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	17
1291	c	EPL091	Epilepsy, Idiopathic Generalized 3	17
1292	c	EPL205	Epilepsy, Idiopathic Generalized 13	17
1293	c	NRC011	Narcolepsy 3	16
1294		GBM001	Gaba Aminotransferase Deficiency	16
1295	c	TRN053	Transient Pseudohypoaldosteronism	16
1296	c	GLT029	Glutaric Acidemia Type Iii	16
1297		TRS010	Trisomy 17 Mosaicism	15
1298	c	SHW007	Shwachman-Diamond Syndrome 2	15
1299		AQG003	Aquagenic Syringeal Acrokeratoderm	14
1300	c	EPL208	Epilepsy, Idiopathic Generalized 8	14
1301		FRB005	Freiberg's Disease	14
1302	P	XKP001	Xk Aprosencephaly	13
1303	c	EPL089	Epilepsy, Idiopathic Generalized 4	12
1304	c	NRC010	Narcolepsy 2	12
1305	c	NRC012	Narcolepsy 4	12
1306	c	EPL090	Epilepsy, Idiopathic Generalized 5	12
1307	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	12
1308	c	NRC013	Narcolepsy 5	11
1309	c	EPL092	Epilepsy, Idiopathic Generalized 2	11
1310		WLF008	Wolffian Tumor	10
1311	c	NRC018	Narcolepsy 6	10
1312	c	PRM209	Primary Trimethylaminuria	10
1313		CHR258	Chromosome 6q Duplication	10
1314		TRN026	Tranebjaerg Svejgaard Syndrome	9
1315	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
1316		MYL069	Myeloma, Multiple	83
1317	P	NNN008	Noonan Syndrome 1	77
1318		PLY001	Polycythemia Vera	74
1319	P	TBR001	Tuberous Sclerosis	68
1320	P	THN009	Thanatophoric Dysplasia, Type I	67
1321	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	66
1322	P	DBT085	Diabetes Mellitus, Insulin-Dependent	65
1323		RCT015	Reactive Arthritis	63
1324		FBR011	Fibrodysplasia Ossificans Progressiva	63
1325	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	63
1326	P	TRC072	Treacher Collins Syndrome 1	61
1327		MYC079	Myoclonic Epilepsy of Lafora	59
1328	P	OVR049	Ovarian Disease	59
1329		PRC002	Paracoccidioidomycosis	58
1330		PRT118	Protoporphyria, Erythropoietic	58
1331		FCL081	Focal Cortical Dysplasia, Type Ii	57
1332	c	ESS001	Essential Tremor	57
1333	c	GCH015	Gaucher Disease, Type I	57
1334		DBF001	D-Bifunctional Protein Deficiency	57
1335	P	ACT105	Acute Mountain Sickness	57
1336		FCT003	Factor X Deficiency	57
1337	c	FRC011	Fructose Intolerance, Hereditary	56
1338		HNT002	Hantavirus Pulmonary Syndrome	56
1339	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	56
1340		HYP052	Hyperkalemic Periodic Paralysis	55
1341		PRP032	Porphyria Variegata	55
1342		CHR619	Chromosome 2q35 Duplication Syndrome	55
1343		VND007	Van Der Woude Syndrome 1	55
1344	P	TRM003	Tremor	54
1345		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	54
1346		ALS001	Alstrom Syndrome	54
1347		MLT135	Multiple Sulfatase Deficiency	53
1348		SMT003	Somatostatinoma	53
1349	P	JRV004	Jervell and Lange-Nielsen Syndrome 1	53
1350		PHL006	Phelan-Mcdermid Syndrome	52
1351		FCT004	Factor Xii Deficiency	51
1352		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	51
1353		AND020	Androgen Insensitivity, Partial	51
1354		PSD012	Pseudoachondroplasia	50
1355		MLT145	Multiple Enchondromatosis, Maffucci Type	50
1356	c	NNN010	Noonan Syndrome 3	49
1357		NM001	Noma	49
1358		IDP024	Idiopathic Inflammatory Myopathy	49
1359	P	PRS049	Persistent Mullerian Duct Syndrome	49
1360		SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	49
1361		IDP035	Idiopathic Achalasia	48
1362	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	47
1363	P	GRN010	Granular Cell Tumor	46
1364	P	CPL003	Capillary Leak Syndrome	45
1365		BRN003	Branchiooculofacial Syndrome	45
1366	P	GLT035	Glutaric Acidemia I	45
1367	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	44
1368	c	CHR546	Chronic Mountain Sickness	44
1369	P	LSS036	Lissencephaly, X-Linked, 1	44
1370		EPD015	Epidemic Typhus	43
1371		IRN004	Iron-Refractory Iron Deficiency Anemia	42
1372	c	GM1004	Gm1-Gangliosidosis, Type I	42
1373	c	SYS007	Systemic Capillary Leak Syndrome	41
1374		MYH012	Myhre Syndrome	41
1375		MLK003	Melkersson-Rosenthal Syndrome	41
1376	P	JVN008	Juvenile Glaucoma	41
1377	c	SPL034	Split-Hand/foot Malformation 4	40
1378		ANR018	Anorchia	40
1379	c	MGL009	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	40
1380		SPN060	Spondylocarpotarsal Synostosis Syndrome	40
1381		TNG001	Tungiasis	39
1382		PTC001	Potocki-Shaffer Syndrome	39
1383		NNT024	Neonatal Stroke	38
1384		LTR003	Lateral Medullary Syndrome	38
1385	c	SPL067	Split-Hand/foot Malformation 1	38
1386	c	GM2005	Gm2-Gangliosidosis, Ab Variant	38
1387	P	GNG010	Gangliosidosis Gm2	37
1388	P	NNT042	Neonatal Lupus Erythematosus	37
1389	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	37
1390		PSD088	Pseudobulbar Affect	37
1391	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	37
1392	c	SPL070	Split-Hand/foot Malformation 2	36
1393		CHR518	Chromosome 9p Deletion Syndrome	36
1394	c	PRM032	Primary Congenital Glaucoma	36
1395	c	STC015	Stickler Syndrome, Type I	36
1396	P	JVN042	Juvenile Retinoschisis	36
1397	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	36
1398	c	GLC083	Glaucoma 3, Primary Infantile, B	35
1399	c	ATS076	Autosomal Recessive Stickler Syndrome	35
1400		FLT009	Folate Malabsorption, Hereditary	35
1401	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	35
1402		LND001	Landau-Kleffner Syndrome	35
1403		DQR001	De Quervain Disease	35
1404	c	SPL033	Split-Hand/foot Malformation 6	35
1405	P	ACR062	Acroosteolysis	34
1406		TRL002	Tarlov Cysts	34
1407	c	NNN012	Noonan Syndrome 5	34
1408	P	MYC078	Myoclonus and Ataxia	34
1409		CHL073	Cholestasis-Lymphedema Syndrome	34
1410		FMR018	Femoral-Facial Syndrome	34
1411		SCH071	Schaaf-Yang Syndrome	34
1412	P	SPS008	Spastic Ataxia	33
1413		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	33
1414	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	33
1415		WTK002	Witkop Syndrome	32
1416	c	NNN011	Noonan Syndrome 4	32
1417	c	SPL025	Split-Hand/foot Malformation 5	32
1418	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	32
1419	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	32
1420		CHR247	Chromosome 4p Deletion	30
1421	c	LSS037	Lissencephaly, X-Linked, 2	30
1422	c	ACQ027	Acquired Cutis Laxa	29
1423		STT009	Sutton Disease 2	29
1424	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	29
1425	c	ACR044	Acroosteolysis Dominant Type	29
1426		CHR270	Chromosome 9p Duplication	28
1427	P	PRX010	Paroxysmal Ventricular Fibrillation	28
1428		CRT039	Corticosterone Methyloxidase Type I Deficiency	28
1429		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	28
1430	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	28
1431		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	28
1432		RBF003	Riboflavin Transporter Deficiency	28
1433	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	28
1434	c	NNN021	Noonan Syndrome 8	28
1435	c	ERL012	Early-Onset Glaucoma	27
1436	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
1437	c	NNN024	Noonan Syndrome 9	27
1438		ESN016	Eosinophilic Pustular Folliculitis	27
1439		LKN007	Leukonychia Totalis	27
1440	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1441		BCK005	Becker Nevus Syndrome	27
1442	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	27
1443		EMB015	Embryonal Tumor with Multilayered Rosettes	27
1444	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	26
1445	c	NNN025	Noonan Syndrome 10	26
1446		CHR265	Chromosome 8p Duplication	26
1447	c	NNN013	Noonan Syndrome 6	26
1448	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	26
1449	c	NNN009	Noonan Syndrome 2	26
1450	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
1451		CHR190	Chromosome 12p Duplication	26
1452	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
1453	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	25
1454		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	25
1455		BJL001	Bejel	25
1456		MNS016	Monosomy 7 of Bone Marrow	24
1457		KRN007	Kerion Celsi	24
1458	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	24
1459	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	24
1460		CHR252	Chromosome 5p Duplication	24
1461		CHR189	Chromosome 12p Deletion	24
1462	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
1463		ACR034	Acrogeria, Gottron Type	23
1464	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	23
1465	c	NNN020	Noonan Syndrome 7	23
1466	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
1467		CHR268	Chromosome 8q Duplication	23
1468		CHR208	Chromosome 17p Deletion	22
1469		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	22
1470		CHR248	Chromosome 4p Duplication	22
1471	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	22
1472	c	FMR009	Fmr1-Related Primary Ovarian Insufficiency	22
1473		CHR243	Chromosome 3p Deletion	22
1474	c	FBR079	Fibromatosis, Gingival, 2	22
1475	c	CRB170	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2	21
1476	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	21
1477	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1478	c	CTS031	Cutis Laxa, Autosomal Dominant 2	21
1479	c	GLY006	Glycogen Storage Disease Viii	20
1480	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	20
1481	c	STC012	Stickler Syndrome, Type Iv	20
1482	c	TRC073	Treacher Collins Syndrome 2	20
1483	c	GLC054	Glaucoma 3, Primary Congenital, D	20
1484		TCH005	Tièche-Jadassohn Nevus	20
1485	c	CNG022	Congenital Granular Cell Tumor	19
1486	c	DBT034	Diabetes Mellitus, Insulin-Dependent, 20	19
1487		DBT018	Diabetic Mastopathy	19
1488	c	STC011	Stickler Syndrome, Type V	19
1489	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	19
1490		IQS001	Iqsec2	18
1491	c	SPS027	Spastic Paraplegia 17	18
1492	c	TRM022	Tremor, Hereditary Essential, 5	18
1493		CHR182	Chromosome 10p Duplication	18
1494		CHR220	Chromosome 1p Deletion	17
1495		CHR257	Chromosome 6q Deletion	16
1496	c	TRM017	Tremor, Hereditary Essential, 4	16
1497	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	16
1498	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	16
1499	c	NNT025	Neonatal Systemic Lupus Erythematosus	16
1500		CHR184	Chromosome 10q Duplication	16
1501	c	GLC089	Glaucoma 3, Primary Congenital, E	16
1502	c	DBT082	Diabetes Mellitus, Insulin-Dependent, 12	16
1503	c	DBT032	Diabetes Mellitus, Insulin-Dependent, 22	15
1504		HND013	Handl Syndrome	15
1505	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	15
1506	c	FBR077	Fibromatosis, Gingival, 3	15
1507		CHR271	Chromosome 9q Deletion	15
1508	c	DBT077	Diabetes Mellitus, Insulin-Dependent, 19	15
1509	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	15
1510		CHD007	Chd2 Myoclonic Encephalopathy	15
1511	c	DBT038	Diabetes Mellitus, Insulin-Dependent, 5	14
1512	c	FBR080	Fibromatosis, Gingival, 4	14
1513	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	14
1514		CHR264	Chromosome 8p Deletion	14
1515	c	EFM001	Efemp2-Related Cutis Laxa	14
1516	P	17Q010	17q12 Deletion Syndrome	14
1517	c	LTB003	Ltbp4-Related Cutis Laxa	14
1518		CHR244	Chromosome 3p Duplication	14
1519		CNT063	Continuous Spike-Wave During Slow Sleep Syndrome	13
1520	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	13
1521	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	13
1522	c	GLC052	Glaucoma 3, Primary Congenital, C	13
1523	c	DBT055	Diabetes Mellitus, Insulin-Dependent, 3	13
1524	c	DBT056	Diabetes Mellitus, Insulin-Dependent, 4	13
1525	c	DBT048	Diabetes Mellitus, Insulin-Dependent, 11	13
1526	c	DBT051	Diabetes Mellitus, Insulin-Dependent, 17	13
1527	c	DBT052	Diabetes Mellitus, Insulin-Dependent, 18	13
1528		CHR272	Chromosome 9q Duplication	13
1529		1QD001	1q Duplications	13
1530	c	DBT058	Diabetes Mellitus, Insulin-Dependent, 7	13
1531	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	13
1532	c	GSR001	Gosr2-Related Progressive Myoclonus Ataxia	12
1533		CHR249	Chromosome 4q Deletion	12
1534		CHR255	Chromosome 6p Deletion	12
1535		CHR183	Chromosome 10q Deletion	12
1536		CHR223	Chromosome 1q Deletion	12
1537		CHR238	Chromosome 2p Duplication	12
1538		CHR274	Chromosome Xq Duplication	12
1539		CHR195	Chromosome 14q Deletion	11
1540		CHR230	Chromosome 20q Deletion	11
1541		CHR256	Chromosome 6p Duplication	11
1542		CHR181	Chromosome 10p Deletion	11
1543	c	TRM016	Tremor, Hereditary Essential, 3	11
1544		CHR192	Chromosome 12q Duplication	11
1545		CHR185	Chromosome 11p Deletion	10
1546		CHR194	Chromosome 13q Duplication	10
1547		CHR199	Chromosome 15q Duplication	10
1548		CHR239	Chromosome 2q Deletion	10
1549		AHM001	Ahumada Del Castillo Syndrome	10
1550		CHR198	Chromosome 15q Deletion	10
1551		CHR235	Chromosome 22q Deletion	10
1552		PMP003	Pemphigus and Fogo Selvagem	10
1553		STT042	Stt3a-Cdg and Stt3b-Cdg	10
1554		CHR228	Chromosome 20p Deletion	10
1555		SYN070	Syngap1-Related Non-Syndromic Intellectual Disability	10
1556		CHR188	Chromosome 11q Duplication	10
1557		CHR203	Chromosome 16p Duplication	10
1558		CHR261	Chromosome 7p Duplication	9
1559		CHR215	Chromosome 19p Deletion	9
1560	c	SPS214	Spastic Ataxia 4	9
1561	c	SPS171	Spastic Ataxia 5	9
1562		CHR214	Chromosome 18q Duplication	9
1563		CHR250	Chromosome 4q Duplication	9
1564		CHR263	Chromosome 7q Duplication	9
1565		CHR267	Chromosome 8q Deletion	9
1566		SPL023	Split Hand/foot Malformation X-Linked	9
1567		CHR191	Chromosome 12q Deletion	9
1568		CHR206	Chromosome 16q Deletion	9
1569		CHR210	Chromosome 17q Duplication	9
1570		CHR234	Chromosome 21q Duplication	8
1571		CHR245	Chromosome 3q Deletion	8
1572		CHR260	Chromosome 7p Deletion	8
1573	c	SPS162	Spastic Ataxia 1	8
1574	c	SPS163	Spastic Ataxia 3	8
1575	c	FBL003	Fbln5-Related Cutis Laxa	8
1576		CHR240	Chromosome 2q Duplication	8
1577		MPN002	Mepan Syndrome	8
1578		CHR196	Chromosome 14q Duplication	8
1579		CHR231	Chromosome 20q Duplication	8
1580		CHR233	Chromosome 21q Deletion	8
1581		CHR237	Chromosome 2p Deletion	8
1582	c	ADL083	Adult-Onset Citrullinemia Type I	8
1583		CHR217	Chromosome 19q Deletion	8
1584	c	SPS170	Spastic Ataxia 2	7
1585	c	SPS229	Spastic Ataxia 8	7
1586		CHR207	Chromosome 16q Duplication	7
1587		CHR218	Chromosome 19q Duplication	7
1588	c	SPS172	Spastic Ataxia 7	7
1589		CHR221	Chromosome 1p Duplication	6
1590		CHR216	Chromosome 19p Duplication	5
1591	c	17Q009	17q12 Recurrent Deletion Syndrome	3
1592	P	RTT002	Rett Syndrome	82
1593		ALP046	Alport Syndrome, X-Linked	75
1594		APL001	Aplastic Anemia	73
1595	P	SPR120	Supranuclear Palsy, Progressive, 1	70
1596	P	DYS154	Dystonia	64
1597	P	KBK002	Kabuki Syndrome 1	63
1598		RCK004	Rickets	62
1599		FCT007	Factor Vii Deficiency	61
1600		CMP005	Campomelic Dysplasia	57
1601	c	CLR131	Ciliary Dyskinesia, Primary, 1	55
1602		LPD016	Lipoid Proteinosis of Urbach and Wiethe	55
1603	P	PRM011	Primary Ciliary Dyskinesia	53
1604	c	BNG091	Benign Chronic Pemphigus	52
1605		RTC002	Reticular Dysgenesis	52
1606	c	DYS056	Dystonia 12	51
1607		WHP001	Whipple Disease	49
1608		ISV001	Isovaleric Acidemia	49
1609		CNG046	Congenital Fiber-Type Disproportion	48
1610	c	GLY011	Glycogen Storage Disease Vii	48
1611		GLY014	Glycerol Kinase Deficiency	48
1612	P	KLF001	Kleefstra Syndrome	46
1613		MCL075	Macular Dystrophy, Corneal	46
1614		CRN005	Craniofrontonasal Syndrome	46
1615	P	ENC008	Encephalocele	46
1616	P	PRM018	Primary Hypertrophic Osteoarthropathy	45
1617		OCL033	Oculocerebral Syndrome with Hypopigmentation	45
1618		CRN286	Corneal Dystrophy, Meesmann	44
1619		TTR005	Tetrahydrobiopterin Deficiency	44
1620	c	SCN005	Secondary Hypertrophic Osteoarthropathy	44
1621		BHR002	Bohring-Opitz Syndrome	43
1622	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	42
1623		WDM004	Wiedemann-Steiner Syndrome	42
1624		HND004	Hand-Foot-Genital Syndrome	42
1625		PRL019	Prolidase Deficiency	42
1626		NRL002	Neurilemmomatosis	42
1627		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	40
1628	c	STR085	Striatonigral Degeneration, Infantile	40
1629	c	DYS146	Dystonia 24	40
1630		ACH001	Acheiropody	39
1631		ARM004	Aromatase Excess Syndrome	39
1632		HYP737	Hyperhidrosis, Gustatory	39
1633		ART035	Arterial Calcification of Infancy	38
1634	c	ZMM002	Zimmermann-Laband Syndrome 1	37
1635		SLT014	Salt and Pepper Developmental Regression Syndrome	37
1636		EPL131	Epilepsy, Pyridoxine-Dependent	37
1637		TLS001	Tolosa-Hunt Syndrome	36
1638	P	HYP769	Hyperlysinemia, Type I	36
1639	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	35
1640		KNZ001	Kanzaki Disease	35
1641		CTL005	Catel-Manzke Syndrome	35
1642	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	35
1643		SCL025	Scleromyxedema	34
1644		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	34
1645	P	STR001	Striatonigral Degeneration	33
1646	c	DYS119	Dystonia 9	33
1647	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	33
1648	P	UNC017	Uncombable Hair Syndrome 1	33
1649		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	32
1650	P	OMD003	Omodysplasia	32
1651		SRC015	Sarcosinemia	31
1652	P	ACR093	Acrofrontofacionasal Dysostosis	31
1653		ICH026	Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis	31
1654	c	KLF004	Kleefstra Syndrome 1	30
1655	c	OMD001	Omodysplasia 1	30
1656		ESN009	Eosinophil Peroxidase Deficiency	30
1657	c	HRD198	Hereditary Dystonia	29
1658	P	ZMM001	Zimmermann-Laband Syndrome	28
1659		CRD017	Cardiac Valvular Dysplasia, X-Linked	27
1660		VNM004	Van Maldergem Syndrome	27
1661	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
1662	c	BSL030	Basal Encephalocele	25
1663	c	CLR090	Ciliary Dyskinesia, Primary, 22	24
1664		CMP093	Complement Component 8 Deficiency, Type I	24
1665	c	ACR103	Acrofrontofacionasal Dysostosis 1	24
1666	c	KBK003	Kabuki Syndrome 2	24
1667	c	CLR114	Ciliary Dyskinesia, Primary, 30	23
1668	c	FRN037	Frontal Encephalocele	23
1669	c	RTT008	Rett Syndrome, Congenital Variant	23
1670	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	23
1671	c	CLR094	Ciliary Dyskinesia, Primary, 28	23
1672	c	DYS145	Dystonia 23	22
1673	c	CLR066	Ciliary Dyskinesia, Primary, 2	22
1674	c	CLR068	Ciliary Dyskinesia, Primary, 5	22
1675	c	CLR105	Ciliary Dyskinesia, Primary, 20	22
1676	c	DYS151	Dystonia 25	22
1677	c	CLR054	Ciliary Dyskinesia, Primary, 12	21
1678	c	CLR042	Ciliary Dyskinesia, Primary, 6	21
1679	c	CLR126	Ciliary Dyskinesia, Primary, 35	21
1680	c	DYS138	Dystonia 21	21
1681	c	CLR125	Ciliary Dyskinesia, Primary, 33	21
1682	c	CLR106	Ciliary Dyskinesia, Primary, 26	21
1683	c	CLR104	Ciliary Dyskinesia, Primary, 15	21
1684	c	CLR102	Ciliary Dyskinesia, Primary, 17	21
1685	c	CLR136	Ciliary Dyskinesia, Primary, 9	21
1686	c	CLR117	Ciliary Dyskinesia, Primary, 32	21
1687	c	CLR101	Ciliary Dyskinesia, Primary, 25	20
1688	c	CLR098	Ciliary Dyskinesia, Primary, 27	20
1689	c	CLR095	Ciliary Dyskinesia, Primary, 19	20
1690	c	DYS172	Dystonia 27	20
1691	c	CLR116	Ciliary Dyskinesia, Primary, 29	20
1692		CMP092	Complement Component 8 Deficiency, Type Ii	20
1693	c	CLR092	Ciliary Dyskinesia, Primary, 18	20
1694	c	CLR088	Ciliary Dyskinesia, Primary, 21	20
1695	c	CLR099	Ciliary Dyskinesia, Primary, 16	19
1696	c	CLR056	Ciliary Dyskinesia, Primary, 10	19
1697	c	ZMM003	Zimmermann-Laband Syndrome 2	19
1698	c	CLR059	Ciliary Dyskinesia, Primary, 13	19
1699	c	CLR135	Ciliary Dyskinesia, Primary, 7	19
1700	c	CLR097	Ciliary Dyskinesia, Primary, 23	19
1701	c	SPR049	Supranuclear Palsy, Progressive, 2	19
1702	c	CLR107	Ciliary Dyskinesia, Primary, 24	18
1703	c	CLR134	Ciliary Dyskinesia, Primary, 3	18
1704	c	CLR053	Ciliary Dyskinesia, Primary, 11	18
1705	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	18
1706		CLD006	Cleidorhizomelic Syndrome	17
1707	c	CLR124	Ciliary Dyskinesia, Primary, 34	17
1708	c	CLR067	Ciliary Dyskinesia, Primary, 4	16
1709	c	CLR069	Ciliary Dyskinesia, Primary, 8	16
1710	c	CLR123	Ciliary Dyskinesia, Primary, 37	16
1711	c	UNC019	Uncombable Hair Syndrome 2	16
1712	c	UNC018	Uncombable Hair Syndrome 3	15
1713	c	KLF005	Kleefstra Syndrome 2	15
1714	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	13
1715	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1716	c	SPR048	Supranuclear Palsy, Progressive, 3	10
1717	c	KMT002	Kmt2b-Related Dystonia	8
1718	P	PRK057	Parkinson Disease, Late-Onset	76
1719		MLD001	Melioidosis	72
1720		WGN006	Wegener Granulomatosis	70
1721	P	MYL005	Myelofibrosis	70
1722	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	67
1723		CRN036	Craniopharyngioma	64
1724	P	CRN015	Cornelia De Lange Syndrome	64
1725	c	DPH024	Diaphragmatic Hernia, Congenital	63
1726		DSM004	Desmoid Tumor	62
1727		HTC003	Hutchinson-Gilford Progeria Syndrome	62
1728	P	HRM001	Hermansky-Pudlak Syndrome	62
1729	P	GRV001	Graves' Disease	61
1730		ALP103	Alpha-1-Antitrypsin Deficiency	61
1731	P	PLY014	Polycystic Kidney Disease	60
1732	P	CTR002	Cataract	60
1733	P	MCK013	Meckel Syndrome, Type 1	59
1734	P	HYP035	Hypophosphatasia	58
1735	P	HLL001	Hallermann-Streiff Syndrome	58
1736	c	GLC092	Glaucoma, Primary Open Angle	57
1737	P	SLV001	Silver-Russell Syndrome	56
1738		GLB001	Gilbert Syndrome	56
1739	P	PTN014	Patent Ductus Arteriosus 1	55
1740		GDP001	Goodpasture Syndrome	55
1741	P	RTN016	Retinal Degeneration	54
1742		CYS010	Cystinosis	54
1743	P	SCK004	Seckel Syndrome	54
1744	c	DYS191	Dystonia 1, Torsion, Autosomal Dominant	53
1745	P	GLY010	Glycine Encephalopathy	53
1746		RSD004	Rosai-Dorfman Disease	52
1747		CRT033	Corticobasal Degeneration	52
1748		PST062	Pustulosis Palmaris Et Plantaris	51
1749	P	OPN001	Open-Angle Glaucoma	51
1750		MRC002	Marcus Gunn Phenomenon	50
1751		TWN001	Twin-to-Twin Transfusion Syndrome	50
1752	c	MCL046	Mucolipidosis Iii Alpha/beta	49
1753	c	HYP292	Hypophosphatasia, Infantile	49
1754		CLD007	Cold Agglutinin Disease	49
1755	c	HYP293	Hypophosphatasia, Adult	49
1756	P	WLL002	Weill-Marchesani Syndrome	49
1757	c	ART120	Arthrogryposis, Distal, Type 3	48
1758	P	FML068	Familial Hypocalciuric Hypercalcemia	48
1759		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	48
1760	c	DWL002	Dowling-Degos Disease 1	48
1761		RGH009	Right Atrial Isomerism	47
1762		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	47
1763		TKL001	Tukel Syndrome	47
1764	c	CRN139	Cornelia De Lange Syndrome 1	47
1765		SGW002	Segawa Syndrome, Autosomal Recessive	47
1766		TRC023	Trichinosis	46
1767	c	HRM005	Hermansky-Pudlak Syndrome 1	46
1768	P	PRT078	Partial Lipodystrophy	46
1769	c	HRM006	Hermansky-Pudlak Syndrome 3	46
1770		GLT007	Glutathione Synthetase Deficiency	46
1771		KPS002	Kaposiform Hemangioendothelioma	46
1772		AMB001	Amebiasis	45
1773		HST006	Histidinemia	45
1774		PRS115	Prosthetic Joint Infection	45
1775		LNR006	Linear Iga Disease	44
1776	c	BRC079	Brachydactyly, Type A2	44
1777	c	SPN311	Spinocerebellar Ataxia 13	44
1778	c	GRV008	Graves Disease 1	43
1779	c	LPD019	Lipodystrophy, Partial, Acquired	43
1780	c	XNT010	Xanthinuria, Type I	43
1781	P	DNR001	Duane Retraction Syndrome	43
1782	c	AMY090	Amyotrophic Lateral Sclerosis 8	42
1783	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	42
1784	c	TYR011	Tyrosinemia, Type Iii	42
1785		HYP781	Hypoascorbemia	42
1786		OCL069	Ocular Motor Apraxia	42
1787	c	WRB002	Warburg Micro Syndrome 1	42
1788		SPR007	Superior Mesenteric Artery Syndrome	42
1789	c	HRM008	Hermansky-Pudlak Syndrome 5	41
1790		LRW001	Leri-Weill Dyschondrosteosis	41
1791		ADP007	Adie Pupil	41
1792		KLV001	Kluver-Bucy Syndrome	41
1793		GNT031	Genitopatellar Syndrome	41
1794	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
1795	c	CTR130	Cataract 9, Multiple Types	41
1796	c	LTN004	Late-Onset Retinal Degeneration	40
1797		HYL004	Hyaline Fibromatosis Syndrome	40
1798	P	DWL001	Dowling-Degos Disease	40
1799	c	MYP123	Myopathy, Centronuclear, 1	39
1800	P	SRT003	Sertoli-Leydig Cell Tumor	39
1801	P	XNT004	Xanthinuria	39
1802		MLG098	Malignant Mixed Mullerian Tumor	39
1803		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	38
1804		CRB079	Cerebrospinal Fluid Leak	38
1805	c	AMY067	Amyotrophic Lateral Sclerosis 18	38
1806		MLD006	Mal De Meleda	38
1807	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	38
1808		CHR492	Chromosome 13q14 Deletion Syndrome	38
1809		MYT030	Myotonia, Potassium-Aggravated	38
1810	c	AMY069	Amyotrophic Lateral Sclerosis 21	38
1811		PYR037	Pyruvate Carboxylase Deficiency	38
1812	c	CTR115	Cataract 16, Multiple Types	38
1813	c	WRB005	Warburg Micro Syndrome 4	37
1814		HMC038	Hemochromatosis, Neonatal	37
1815	c	CTR118	Cataract 14, Multiple Types	37
1816		NCT003	N-Acetylglutamate Synthase Deficiency	36
1817	c	CTR170	Cataract 30, Multiple Types	36
1818	c	SPN094	Spinocerebellar Ataxia 18	36
1819	c	CTR098	Cataract 1, Multiple Types	35
1820	c	DNT025	Dentinogenesis Imperfecta 1	34
1821	P	CRB154	Cerebrocostomandibular Syndrome	34
1822	c	ART147	Arthrogryposis, Distal, Type 7	34
1823	c	DNR003	Duane Retraction Syndrome 1	34
1824	c	XNT011	Xanthinuria, Type Ii	34
1825	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	34
1826	P	SCH017	Schindler Disease	33
1827	c	HRM009	Hermansky-Pudlak Syndrome 6	33
1828	c	CTR141	Cataract 21, Multiple Types	33
1829	c	WRB003	Warburg Micro Syndrome 2	33
1830	c	AMY085	Amyotrophic Lateral Sclerosis 9	33
1831	c	AMY088	Amyotrophic Lateral Sclerosis 3	32
1832	c	HRM011	Hermansky-Pudlak Syndrome 8	32
1833	c	CTR122	Cataract 5, Multiple Types	32
1834	c	AMY059	Amyotrophic Lateral Sclerosis 19	32
1835	c	SCH069	Schindler Disease, Type I	32
1836	P	WRB001	Warburg Micro Syndrome	32
1837	c	HRM012	Hermansky-Pudlak Syndrome 9	32
1838	c	AMY083	Amyotrophic Lateral Sclerosis 11	32
1839		MLN011	Malonyl-Coa Decarboxylase Deficiency	32
1840		HMM002	Haim-Munk Syndrome	31
1841	c	ALB010	Albinism, Oculocutaneous, Type Ib	31
1842	c	CTR125	Cataract 7	31
1843	c	WLL036	Weill-Marchesani Syndrome 1	31
1844	c	CTR145	Cataract 44	31
1845	c	MCK033	Meckel Syndrome, Type 4	31
1846		MDN008	Median Arcuate Ligament Syndrome	31
1847	c	CTR103	Cataract 4, Multiple Types	31
1848	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	31
1849	c	CTR158	Cataract 37	31
1850		12Q002	12q14 Microdeletion Syndrome	30
1851	c	MCK012	Meckel Syndrome, Type 6	30
1852		GRS001	Gerstmann Syndrome	30
1853	c	HRD142	Hereditary Xanthinuria	30
1854	c	SCK009	Seckel Syndrome 1	30
1855	c	SPN104	Spinocerebellar Ataxia 34	29
1856	c	WLL037	Weill-Marchesani Syndrome 2	29
1857	c	HRM020	Hermansky-Pudlak Syndrome 10	29
1858	c	CTR096	Cataract 6, Multiple Types	29
1859	c	SCK011	Seckel Syndrome 5	29
1860	c	CTR102	Cataract 2, Multiple Types	28
1861		IVC001	Ivic Syndrome	28
1862	c	GLC041	Glaucoma 1, Open Angle, a	28
1863		FRN022	Frontofacionasal Dysplasia	28
1864	c	CTR175	Cataract 24	28
1865		NTR011	Neutrophil-Specific Granule Deficiency	28
1866	c	HRM010	Hermansky-Pudlak Syndrome 7	28
1867	c	CTR132	Cataract 3, Multiple Types	28
1868	c	DYS067	Dystonia 6, Torsion	28
1869	c	CTR121	Cataract 25	28
1870	c	SCK010	Seckel Syndrome 4	28
1871	c	DYS163	Dystonia 4, Torsion, Autosomal Dominant	27
1872	c	HRM007	Hermansky-Pudlak Syndrome 4	27
1873	c	CTR174	Cataract 40	27
1874		HYP160	Hyperkeratosis Lenticularis Perstans	27
1875	c	CTR124	Cataract 10, Multiple Types	27
1876		MBD001	Mbd5 Haploinsufficiency	27
1877		HRZ002	Horizontal Gaze Palsy with Progressive Scoliosis	26
1878		PGD001	Pagod Syndrome	26
1879	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
1880		ELS006	Elsahy-Waters Syndrome	26
1881	c	BRC062	Brachydactyly, Type D	26
1882	c	AMY063	Amyotrophic Lateral Sclerosis 20	26
1883	c	AMY089	Amyotrophic Lateral Sclerosis 7	26
1884		XLN012	X-Linked Congenital Stationary Night Blindness	26
1885	c	CRN134	Cornelia De Lange Syndrome 2	26
1886		FBR088	Fibromatosis, Gingival, with Progressive Deafness	26
1887		CHR266	Chromosome 8p23.1 Deletion	26
1888		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	25
1889	c	LPD034	Lipodystrophy, Familial Partial, Type 4	25
1890	P	TTH021	Tethered Cord Syndrome	25
1891	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
1892		PRN035	Perniosis	25
1893		CLC017	Calcification of Joints and Arteries	25
1894	c	CTR169	Cataract 29	25
1895	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	24
1896		CHR281	Chronic Hiccups	24
1897		SPN125	Spondyloenchondrodysplasia	24
1898	c	AMY055	Amyotrophic Lateral Sclerosis 17	24
1899	c	SCK015	Seckel Syndrome 2	24
1900	c	WLL038	Weill-Marchesani Syndrome 3	24
1901		MLD010	Mild Phenylketonuria	24
1902		ACR107	Acrofacial Dysostosis, Palagonia Type	24
1903	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
1904	c	CRN209	Cornelia De Lange Syndrome 5	23
1905	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	23
1906		YNG002	Young Syndrome	23
1907	c	AMY062	Amyotrophic Lateral Sclerosis 12	23
1908		SPN152	Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta	23
1909	c	DYS063	Dystonia 2, Torsion, Autosomal Recessive	23
1910	c	WLL040	Weill-Marchesani Syndrome 4	23
1911	c	WRB004	Warburg Micro Syndrome 3	23
1912	P	DYS068	Dystonia 7, Torsion	23
1913	c	MCK034	Meckel Syndrome, Type 8	23
1914		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	23
1915	c	SCK029	Seckel Syndrome 7	23
1916	c	BRC060	Brachydactyly, Type E2	23
1917	P	ALP068	Alopecia-Intellectual Disability Syndrome	22
1918	c	CTR166	Cataract 33, Multiple Types	22
1919	c	CTR131	Cataract 17, Multiple Types	22
1920	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	22
1921	c	BRC052	Brachydactyly, Type B2	22
1922	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	22
1923	c	CRN215	Cornelia De Lange Syndrome 4	22
1924	c	MCK014	Meckel Syndrome, Type 5	22
1925	c	MCK035	Meckel Syndrome, Type 10	22
1926	c	ACR105	Acrofrontofacionasal Dysostosis 2	22
1927	c	MCK026	Meckel Syndrome 12	22
1928		LCH008	Lichen Planus Pigmentosus	22
1929	c	BRC080	Brachydactyly, Type A1, B	22
1930		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1931	c	CTR180	Cataract 22, Multiple Types	22
1932	c	SCK038	Seckel Syndrome 10	22
1933	c	CRN135	Cornelia De Lange Syndrome 3	22
1934	c	CTR184	Cataract 39, Multiple Types	22
1935	c	CTR162	Cataract 47	21
1936		ACR019	Acropectoral Syndrome	21
1937	c	SPS091	Spastic Paraplegia 4	21
1938	c	BRC075	Brachydactyly, Type A1, C	21
1939	c	BRC099	Brachydactyly, Type A4	21
1940	c	BRC105	Brachydactyly, Type A1, D	21
1941	c	CTR105	Cataract 12, Multiple Types	21
1942	c	SCK033	Seckel Syndrome 8	21
1943	c	MYP148	Myopathy, Centronuclear, 5	21
1944		ADL094	Adolescent-Onset Dystonia of Mixed Type	21
1945		YCH001	Y Chromosome Infertility	20
1946	c	SCK037	Seckel Syndrome 9	20
1947	c	CTR165	Cataract 19, Multiple Types	20
1948	c	CTR159	Cataract 35	20
1949	c	CTR182	Cataract 23, Multiple Types	20
1950	c	CTR116	Cataract 15, Multiple Types	20
1951	c	MCK036	Meckel Syndrome, Type 9	20
1952	c	CTR183	Cataract 38	20
1953	c	CTR136	Cataract 41	20
1954	c	CTR097	Cataract 34, Multiple Types	20
1955	c	MYP098	Myopathy, Centronuclear, 4	20
1956	c	MCK028	Meckel Syndrome 13	20
1957	c	CTR111	Cataract 36	20
1958		EGL001	Eagle Syndrome	19
1959	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	19
1960	c	CTR163	Cataract 46, Juvenile-Onset	19
1961		OGL001	Ogilvie Syndrome	19
1962	c	DNR004	Duane Retraction Syndrome 2	19
1963		XLN134	X-Linked Intellectual Disability, Siderius Type	19
1964	c	MCK020	Meckel Syndrome, Type 11	19
1965	c	INF126	Infantile Glycine Encephalopathy	19
1966		DSS022	Disseminated Peritoneal Leiomyomatosis	19
1967		LNR010	Linear Lichen Planus	18
1968	c	CTR139	Cataract 42	18
1969		BRC100	Brachydactyly, Combined B and E Types	18
1970	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
1971	c	CRN068	Corneal Endothelial Dystrophy Type 2	18
1972	c	CTR178	Cataract 27	18
1973	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	18
1974	c	CTR157	Cataract 28	18
1975	c	MYP096	Myopathy, Centronuclear, 3	18
1976		CRP036	Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	18
1977	c	CTR110	Cataract 26, Multiple Types	18
1978	c	CTR106	Cataract 20, Multiple Types	18
1979	c	SCK032	Seckel Syndrome 6	18
1980	c	CTR144	Cataract 43	18
1981	c	CTR185	Cataract 30	17
1982		ABS001	Absence of Fingerprints Congenital Milia	17
1983	c	CTR160	Cataract 45	17
1984	c	LPR019	Lipe-Related Familial Partial Lipodystrophy	17
1985	c	AMY108	Amyotrophic Lateral Sclerosis 23	17
1986		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	17
1987	c	DWL003	Dowling-Degos Disease 2	17
1988	c	DYS184	Dystonia 17, Torsion, Autosomal Recessive	17
1989	c	GLC079	Glaucoma 1, Open Angle, P	17
1990		PYR015	Pyridoxal 5'-Phosphate-Dependent Epilepsy	17
1991	c	DPH016	Diaphragmatic Hernia 3	16
1992	c	PLY141	Polycystic Kidney Disease 5	16
1993		ACN013	Acanthocheilonemiasis	16
1994		ATS012	Autosomal Dominant Partial Epilepsy with Auditory Features	16
1995	c	DWL004	Dowling-Degos Disease 4	15
1996	c	CHR227	Chromosome 20 Trisomy	15
1997	c	PTN012	Patent Ductus Arteriosus 3	15
1998	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	15
1999		ABS007	Absent Patella	15
2000	c	PTN013	Patent Ductus Arteriosus 2	15
2001	c	CTR128	Cataract 33	14
2002	c	DNT047	Dentinogenesis Imperfecta Type 2	14
2003		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	14
2004	c	DPH025	Diaphragmatic Hernia 2	14
2005	c	TRS005	Torsion Dystonia with Onset in Infancy	14
2006		SCN061	Scn8a Encephalopathy	14
2007	c	AMY112	Amyotrophic Lateral Sclerosis 25	14
2008		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	13
2009		RGH003	Right Ventricle Hypoplasia	13
2010		OCL031	Oculo-Cerebral Dysplasia	13
2011		BNG042	Benign Multicystic Peritoneal Mesothelioma	13
2012	c	DWL005	Dowling-Degos Disease 3	13
2013	c	MRD001	Marden Walker Like Syndrome	13
2014	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	12
2015	c	DNT048	Dentinogenesis Imperfecta Type 3	12
2016		MLP003	Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type	12
2017		ANP019	Anophthalmos with Limb Anomalies	12
2018	c	TRS025	Torsion Dystonia 2	11
2019		DNM003	Daneman Davy Mancer Syndrome	11
2020	c	AMY110	Amyotrophic Lateral Sclerosis 24	11
2021	c	GLC048	Glaucoma 1, Open Angle, I	11
2022		MN1002	Man1b1-Cdg	11
2023		LYM044	Lymphocytic Infiltrate of Jessner	11
2024	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	11
2025		ISL037	Isolated Anterior Cervical Hypertrichosis	11
2026	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	10
2027	c	PRM246	Primary Tethered Cord Syndrome	10
2028	P	HRN027	Hernia, Anterior Diaphragmatic	10
2029		RRD001	Reardon Wilson Cavanagh Syndrome	10
2030		3LP002	3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency	10
2031	c	GRV009	Graves Disease 2	10
2032		EPL008	Epilepsy Occipital Calcifications	9
2033	c	HLL012	Hallermann-Streiff-Like Syndrome	9
2034	c	TRD001	Tardbp-Related Amyotrophic Lateral Sclerosis	9
2035	c	TRS027	Torsion Dystonia 4	9
2036		BRK005	Berk-Tabatznik Syndrome	9
2037	c	PLY176	Polycystic Kidney Disease 4	8
2038	c	TRS028	Torsion Dystonia 17	7
2039	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	7
2040	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	7
2041		15Q006	15q13.3 Microduplication Syndrome	7
2042	c	MLG021	Malignant Sertoli-Leydig Cell Tumor	5
2043	c	MCL042	Macular Degeneration, Age-Related, 1	84
2044		PLM134	Pulmonary Fibrosis, Idiopathic	73
2045		PHN003	Phenylketonuria	73
2046		WLS001	Wilson Disease	71
2047	c	MLT156	Multiple Endocrine Neoplasia, Type I	71
2048		CRZ001	Crouzon Syndrome	70
2049	c	HMC039	Hemochromatosis, Type 1	70
2050		VNH007	Von Hippel-Lindau Syndrome	69
2051		APR006	Apert Syndrome	68
2052		GTL001	Gitelman Syndrome	63
2053	P	CLD001	Cleidocranial Dysplasia	62
2054		SCH014	Schistosomiasis	62
2055	P	WLD002	Waldenstrom Macroglobulinemia	61
2056	c	LNG044	Long Qt Syndrome 1	61
2057		VGT001	Vogt-Koyanagi-Harada Disease	60
2058		CCC001	Coccidioidomycosis	59
2059		PRT058	Pure Autonomic Failure	59
2060		TRD006	Tardive Dyskinesia	59
2061		ERD001	Erdheim-Chester Disease	58
2062		ZLL002	Zollinger-Ellison Syndrome	58
2063		STS003	Sitosterolemia	58
2064		SLC006	Silicosis	56
2065		BTN003	Biotinidase Deficiency	56
2066		PND002	Pendred Syndrome	55
2067		PSD014	Pseudopseudohypoparathyroidism	55
2068	c	TYR012	Tyrosinemia, Type I	54
2069	P	LPR002	Leopard Syndrome	54
2070		KRT002	Keratomalacia	54
2071	c	INF071	Inflammatory Bowel Disease 1	53
2072	P	INF037	Inflammatory Bowel Disease	53
2073	c	ACH041	Achondrogenesis, Type Ii	53
2074		DFF035	Diffuse Cutaneous Systemic Sclerosis	52
2075		TMT001	Timothy Syndrome	51
2076		BLL001	Baller-Gerold Syndrome	50
2077		KLN009	Kleine-Levin Hibernation Syndrome	48
2078		ICH002	Ichthyosis Bullosa of Siemens	48
2079		HNC001	Henoch-Schoenlein Purpura	47
2080	P	PLG001	Pelger-Huet Anomaly	47
2081	P	BRN006	Branchiootorenal Syndrome	47
2082		PLM041	Pulmonary Valve Stenosis	47
2083		MTC020	Mitochondrial Complex Ii Deficiency	47
2084	P	RBN002	Robinow Syndrome	47
2085		MLB001	Mulibrey Nanism	46
2086		FDB001	Foodborne Botulism	45
2087	c	ATS082	Autosomal Dominant Robinow Syndrome	45
2088		GLC011	Galactose Epimerase Deficiency	45
2089	c	CHR579	Chiari Malformation Type Ii	45
2090	c	46X001	46 Xy Gonadal Dysgenesis	44
2091		FBR008	Fibrillary Astrocytoma	44
2092		BRK001	Brooke-Spiegler Syndrome	44
2093		FLT006	Floating-Harbor Syndrome	44
2094		MCS006	Macs Syndrome	44
2095		CNR007	Cone-Rod Dystrophy 6	44
2096	c	RBN009	Robinow Syndrome, Autosomal Recessive	44
2097		PNN005	Panencephalitis, Subacute Sclerosing	43
2098	c	HMC009	Hemochromatosis Type 2	42
2099		CRS005	Crest Syndrome	42
2100		RTR011	Retroperitoneal Fibrosis	42
2101		PND004	Pandas	42
2102		IDP033	Idiopathic Edema	42
2103	c	ATS275	Autosomal Recessive Primary Microcephaly	42
2104	c	ACH021	Achromatopsia 3	42
2105	c	BRN131	Branchiootorenal Syndrome 1	40
2106	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	40
2107		DRC001	Dracunculiasis	40
2108	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	39
2109	c	LNG057	Long Qt Syndrome 13	39
2110		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	38
2111	c	LNG096	Long Qt Syndrome 15	38
2112		TLP001	Talipes Equinovarus	38
2113		YWS001	Yaws	38
2114		NNC002	Nance-Horan Syndrome	38
2115	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	37
2116	P	VSC018	Visceral Steatosis	37
2117	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	36
2118	c	PSD092	Pseudohypoaldosteronism, Type Iie	36
2119		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	36
2120	c	SPR083	Sporadic Hemiplegic Migraine	36
2121		PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	35
2122		TST023	Testotoxicosis	35
2123		AMN007	Aminoacylase 1 Deficiency	35
2124		DND005	Dandy-Walker Complex	35
2125	c	LNG056	Long Qt Syndrome 12	35
2126		PLM052	Pulmonary Arteriovenous Malformation	34
2127		CHR662	Chromosome 15q13.3 Deletion Syndrome	34
2128	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
2129		LNG054	Lung Agenesis	34
2130	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	33
2131	c	LPR012	Leopard Syndrome 1	33
2132	c	INF086	Inflammatory Bowel Disease 3	33
2133		PRT049	Partial Deletion of Y	33
2134		GRV012	Grover's Disease	33
2135	P	MTP005	Metaphyseal Anadysplasia	32
2136		NRM009	Normokalemic Periodic Paralysis	32
2137		AMN009	Amniotic Band Syndrome	32
2138		ADL060	Adult Polyglucosan Body Disease	31
2139	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	31
2140	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	31
2141	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	30
2142	c	PRM195	Primary Lateral Sclerosis, Juvenile	30
2143	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	29
2144	c	GM1006	Gm1-Gangliosidosis, Type Iii	29
2145		WLD004	Wildervanck Syndrome	29
2146	c	INF087	Inflammatory Bowel Disease 4	28
2147		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	28
2148		MRK002	Marek Disease	28
2149	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	28
2150		FBR028	Fibrosing Mediastinitis	28
2151		GLT005	Glutamate Formiminotransferase Deficiency	28
2152	c	FML306	Familial or Sporadic Hemiplegic Migraine	27
2153		5LP001	5-Alpha Reductase Deficiency	27
2154		PRX034	Peroxisome Disorders	27
2155	c	PRM092	Primary Lateral Sclerosis, Adult, 1	27
2156		MYT019	May-Thurner Syndrome	27
2157	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	27
2158		PRM050	Primary Orthostatic Tremor	26
2159	c	INF089	Inflammatory Bowel Disease 6	26
2160	c	INF092	Inflammatory Bowel Disease 9	26
2161	c	SYN060	Syndactyly, Type Iii	26
2162	c	LNG098	Long Qt Syndrome 14	26
2163	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	26
2164		CRN238	Corneal Dystrophy, Epithelial Basement Membrane	26
2165	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	25
2166	c	RNG016	Ring Chromosome 20	25
2167	c	MCL078	Macular Degeneration, Age-Related, 14	25
2168	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	25
2169		MLL004	Mallory-Weiss Syndrome	25
2170		IGG016	Igg4-Related Dacryoadenitis and Sialadenitis	25
2171	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	24
2172		3MT011	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	24
2173		CTN016	Cutaneous Larva Migrans	24
2174	c	INF075	Inflammatory Bowel Disease 16	24
2175		SKT001	Sakati Syndrome	23
2176	c	INF088	Inflammatory Bowel Disease 5	23
2177	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	23
2178	c	SPS025	Spastic Paraplegia 15	23
2179		MLD017	Mal De Debarquement Syndrome	23
2180	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	23
2181	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	23
2182	c	MCR161	Macroglobulinemia, Waldenstrom 1	23
2183		PLY135	Polydactyly, Postaxial, with Progressive Myopia	22
2184	c	MCL030	Macular Degeneration, Age-Related, 10	22
2185	c	MGR031	Migraine, Familial Hemiplegic, 3	22
2186	P	PST016	Posterior Polar Cataract	22
2187	c	GLY059	Glycogen Storage Disease Xiii	22
2188		UNL013	Unilateral Absence of a Pulmonary Artery	22
2189	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	22
2190	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	22
2191	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	22
2192		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	22
2193	c	SBC039	Subacute Cerebellar Degeneration	22
2194		DRM050	Dermographism, Familial	22
2195		RTN145	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	22
2196	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	22
2197	c	VSC053	Visceral Steatosis, Congenital	21
2198	c	MCL043	Macular Degeneration, Age-Related, 2	21
2199	c	INF078	Inflammatory Bowel Disease 2	21
2200	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	21
2201	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	21
2202	c	INF072	Inflammatory Bowel Disease 11	21
2203	c	INF077	Inflammatory Bowel Disease 19	21
2204	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	21
2205	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	20
2206	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	20
2207	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	20
2208		DST011	Distal Chromosome 18q Deletion Syndrome	20
2209	c	LPR007	Leopard Syndrome 3	20
2210	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	20
2211	c	PRM015	Primary Cerebellar Degeneration	19
2212	c	MCL052	Macular Degeneration, Age-Related, 13	19
2213	c	GNS004	Geniospasm 1	19
2214	c	INF093	Inflammatory Bowel Disease 14	19
2215	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	19
2216		TMM013	Tmem70 Defect	19
2217	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	19
2218	c	LPR011	Leopard Syndrome 2	19
2219	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	19
2220	c	BRN046	Branchiootorenal Spectrum Disorders	19
2221	c	SPS042	Spastic Paraplegia 9	19
2222	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	18
2223	c	BRN086	Branchiootorenal Syndrome 2	18
2224		BRH001	Boerhaave Syndrome	18
2225	P	RNG031	Ring Chromosome Y Syndrome	18
2226		CRB155	Carbonic Anhydrase Va Deficiency	18
2227	c	INF090	Inflammatory Bowel Disease 7	18
2228	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	17
2229	c	INF068	Inflammatory Bowel Disease 13	17
2230	c	INF079	Inflammatory Bowel Disease 20	17
2231	P	MCL058	Macular Degeneration, Early-Onset	17
2232	c	INF067	Inflammatory Bowel Disease 10	17
2233	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	17
2234	c	46X002	46 Xx Gonadal Dysgenesis	16
2235		16P002	16p11.2 Deletion Syndrome	16
2236	c	MCL039	Macular Degeneration, Age-Related, 8	16
2237	c	SPS080	Spastic Paraplegia 51	16
2238	c	INF160	Inflammatory Bowel Disease 17	16
2239		ACH040	Achoo Syndrome	16
2240	c	MCL041	Macular Degeneration, Age-Related, 7	16
2241		ISL067	Isolated Congenital Megalocornea	16
2242	c	MCL077	Macular Degeneration, Age-Related, 5	16
2243		AMY010	Amyloidosis Beta2m	16
2244	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	15
2245	c	MCL032	Macular Degeneration, Age-Related, 11	15
2246	c	MCL051	Macular Degeneration, Age-Related, 12	15
2247		NCT004	N Acetyltransferase Deficiency	15
2248		DPL003	Diploid-Triploid Mosaicism	15
2249		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	15
2250		THP001	Thiopurine S Methyltranferase Deficiency	15
2251	c	MCL038	Macular Degeneration, Age-Related, 4	15
2252	c	MCL036	Macular Degeneration, Age-Related, 6	15
2253	c	RBN010	Robinow-Like Syndrome	15
2254	c	MTP014	Metaphyseal Anadysplasia 2	15
2255		PRX013	Proximal Chromosome 18q Deletion Syndrome	15
2256	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	15
2257	c	INF080	Inflammatory Bowel Disease 21	14
2258	c	MCL044	Macular Degeneration, Age-Related, 9	14
2259	c	MCL065	Macular Degeneration, Age-Related, 15	14
2260		RDC003	Red Cell Phospholipid Defect with Hemolysis	14
2261		16P008	16p11.2 Duplication	13
2262	c	INF091	Inflammatory Bowel Disease 8	13
2263	c	INF076	Inflammatory Bowel Disease 18	13
2264	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	12
2265		NPH026	Nephrotic Syndrome, Idiopathic, Steroid-Resistant	12
2266		CHR459	Chromosome Xp Deletion	12
2267	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	12
2268	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	12
2269	c	MCR162	Macroglobulinemia, Waldenstrom 2	12
2270	c	INF073	Inflammatory Bowel Disease 12	12
2271	c	INF074	Inflammatory Bowel Disease 15	12
2272	c	INF081	Inflammatory Bowel Disease 22	12
2273	c	INF082	Inflammatory Bowel Disease 23	12
2274	c	INF083	Inflammatory Bowel Disease 24	12
2275	c	INF084	Inflammatory Bowel Disease 26	12
2276	c	INF085	Inflammatory Bowel Disease 27	12
2277	c	INF162	Inflammatory Bowel Disease 25	12
2278		RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	11
2279	c	SYN050	Syndactyly Type 6	11
2280		BST005	Bustos Simosa Pinto Cisternas Syndrome	11
2281	P	HRD194	Hereditary Geniospasm	11
2282	c	INF161	Inflammatory Bowel Disease 28	11
2283		CTR009	Cataract Congenital Dominant Non Nuclear	10
2284	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	10
2285		STB003	Setbp1 Disorder	10
2286		FTL011	Fetal Aminopterin Syndrome	10
2287	c	ICH015	Ichthyosis Lamellar 2	9
2288	c	ACT189	Acute Neonatal Citrullinemia Type I	9
2289		PCS002	Pacs1-Related Syndrome	8
2290		HTC001	Hutchinson Incisors	8
2291	c	ERL039	Early-Onset Anterior Polar Cataract	8
2292		CHR186	Chromosome 11p Duplication	7
2293		CHR460	Chromosome Xq Deletion	7
2294	c	RR2001	Ror2-Related Robinow Syndrome	7
2295		GRN053	Grin2b Related Syndrome	7
2296		PRS059	Prostaglandin-Endoperoxide Synthase Deficiency	7
2297		SPS189	Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	5
2298	c	SPN225	Spondyloarthropathy 1	71
2299		GLC006	Galactosemia	65
2300		CRB011	Cerebrotendinous Xanthomatosis	63
2301		PMS001	Poems Syndrome	63
2302	P	PRD006	Prader-Willi Syndrome	61
2303		CNT061	Conotruncal Heart Malformations	61
2304	P	SPN052	Spondyloarthropathy	60
2305		CFF002	Coffin-Lowry Syndrome	57
2306		SCH002	Schnitzler Syndrome	54
2307	P	AXN002	Axenfeld-Rieger Syndrome	53
2308		PLM026	Pilomatrixoma	53
2309	P	LFT003	Left Ventricular Noncompaction	52
2310		HYD046	Hydatidiform Mole, Recurrent, 1	52
2311		CHY002	Chylomicron Retention Disease	52
2312		VPM001	Vipoma	51
2313	P	MYM013	Moyamoya Disease 1	51
2314		FLT011	Felty Syndrome	51
2315		AML029	Ameloblastoma	50
2316		ANT003	Antley-Bixler Syndrome	50
2317		CTS011	Cutis Marmorata Telangiectatica Congenita	49
2318		YNS002	Yunis-Varon Syndrome	48
2319		SRS007	Sorsby Fundus Dystrophy	48
2320	P	ALT001	Alternating Hemiplegia of Childhood	48
2321		ENC010	Encephalocraniocutaneous Lipomatosis	47
2322	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
2323	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	46
2324	P	ICH001	Ichthyosis Vulgaris	45
2325	c	HRM017	Hermansky-Pudlak Syndrome 2	43
2326		CRL004	Caroli Disease	40
2327		RPD002	Rapadilino Syndrome	39
2328	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	39
2329	c	DSB006	Desbuquois Dysplasia 1	39
2330	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	36
2331		PNB004	Panbronchiolitis, Diffuse	35
2332		INT104	Intravascular Papillary Endothelial Hyperplasia	35
2333		NVS015	Nevus Comedonicus	34
2334	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	34
2335		SNG007	Sengers Syndrome	33
2336		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	31
2337		PRG123	Progeroid Syndrome, Neonatal	30
2338		FLP001	Filippi Syndrome	30
2339		BRW004	Brown-Sequard Syndrome	30
2340	P	DSB002	Desbuquois Dysplasia	28
2341		KRT013	Keratolytic Winter Erythema	28
2342	c	LFT021	Left Ventricular Noncompaction 1	27
2343		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	27
2344	c	RNG029	Ring Chromosome 14 Syndrome	26
2345		ARD001	Aredyld	25
2346		CHR588	Chromosome 8q22.1 Duplication Syndrome	25
2347	c	DSB005	Desbuquois Dysplasia 2	25
2348	P	PPL026	Papular Mucinosis	22
2349	c	LFT017	Left Ventricular Noncompaction 8	21
2350	c	ALT007	Alternating Hemiplegia of Childhood 2	20
2351	c	ALT008	Alternating Hemiplegia of Childhood 1	19
2352	c	LFT018	Left Ventricular Noncompaction 10	18
2353		RBB001	Ribbing Disease	17
2354	c	MYM003	Moyamoya Disease 5	17
2355	c	LFT020	Left Ventricular Noncompaction 7	16
2356	c	MYM004	Moyamoya Disease 2	16
2357	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	15
2358	c	SPN226	Spondyloarthropathy 2	14
2359	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	12
2360	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	12
2361	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
2362	c	MYM005	Moyamoya Disease 3	11
2363	c	LFT011	Left Ventricular Noncompaction 2	10
2364	c	SPN256	Spondyloarthropathy 3	9
2365	c	PPL045	Papular Mucinosis of Infancy	8
2366	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
2367	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
2368	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
2369		ACR007	Acromegaly	69
2370		CST001	Costello Syndrome	66
2371		GLL008	Gilles De La Tourette Syndrome	63
2372	P	CNG411	Congenital Disorder of Glycosylation, Type in	62
2373	P	AGN002	Agnosia	61
2374	P	EHL001	Ehlers-Danlos Syndrome	60
2375		QFV001	Q Fever	60
2376		CHR103	Charge Syndrome	60
2377		INC021	Incontinentia Pigmenti	59
2378		PLL001	Pallister-Hall Syndrome	58
2379		SPN008	Spondyloepiphyseal Dysplasia Congenita	58
2380		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	58
2381		LCR014	Lacrimoauriculodentodigital Syndrome	58
2382		MYX005	Myxoid Liposarcoma	58
2383	P	BCK002	Beckwith-Wiedemann Syndrome	57
2384	P	LCH002	Lichen Planus	57
2385		BLR001	Biliary Atresia	57
2386	c	MNN047	Mannosidosis, Alpha B, Lysosomal	56
2387	P	STS008	Sotos Syndrome 1	56
2388		WLL006	Wells Syndrome	56
2389	P	HYP076	Hyperthyroidism	56
2390		NPH018	Nephrogenic Systemic Fibrosis	55
2391		CHR081	Choroideremia	54
2392	P	MLT007	Multiple Epiphyseal Dysplasia	53
2393	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	52
2394		GRG001	Greig Cephalopolysyndactyly Syndrome	52
2395	P	BRT004	Bartter Disease	51
2396		ARG007	Argininemia	51
2397	P	HYP760	Hypothyroidism, Congenital, Nongoitrous, 2	51
2398	P	DYS026	Dysfibrinogenemia	50
2399		PYC001	Pycnodysostosis	50
2400		MMB001	Membranoproliferative Glomerulonephritis	50
2401		ULN003	Ulnar-Mammary Syndrome	50
2402	P	APL006	Aplasia Cutis Congenita	50
2403		MMM001	Mammary Paget's Disease	50
2404		RYS001	Reye Syndrome	49
2405		EPD006	Epidermolysis Bullosa Acquisita	49
2406		FCH001	Fuchs' Endothelial Dystrophy	49
2407		HYP458	Hyper Ige Syndrome	49
2408	c	ALP073	Alport Syndrome, Autosomal Recessive	48
2409	P	PLM085	Pulmonary Hemosiderosis	48
2410		CNN011	Cenani-Lenz Syndactyly Syndrome	48
2411	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	47
2412	c	CNG124	Congenital Rubella	47
2413		NDL003	Nodular Nonsuppurative Panniculitis	46
2414	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	46
2415		BLD063	Bile Duct Cysts	46
2416		MCR037	Macroglossia	46
2417	P	RDL002	Radioulnar Synostosis	45
2418	c	BRD044	Bardet-Biedl Syndrome 17	45
2419	P	WHT013	White Sponge Nevus 1	45
2420		HMF008	Hemifacial Atrophy, Progressive	45
2421		MLT134	Multiple Pterygium Syndrome, Lethal Type	45
2422	c	SPN100	Spinocerebellar Ataxia 27	45
2423		CHN054	Chondrodysplasia, Blomstrand Type	44
2424	c	USH037	Usher Syndrome, Type Iia	44
2425	c	BRD013	Bardet-Biedl Syndrome 12	44
2426		MYP136	Myopathy, Centronuclear, X-Linked	44
2427		DYS164	Dyskeratosis Congenita, X-Linked	44
2428		CHR276	Chronic Active Epstein-Barr Virus Infection	43
2429		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	43
2430	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	43
2431	P	JVN007	Juvenile Absence Epilepsy	42
2432		SCH076	Schnyder Corneal Dystrophy	42
2433		FRY002	Fryns Syndrome	42
2434	c	BRD048	Bardet-Biedl Syndrome 18	42
2435	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	42
2436	c	BRD033	Bardet-Biedl Syndrome 13	41
2437		CLB010	Coloboma of Macula	41
2438		SBL008	Sea-Blue Histiocyte Disease	41
2439		PTC002	Potocki-Lupski Syndrome	41
2440	P	8P1002	8p11 Myeloproliferative Syndrome	40
2441	c	SPN103	Spinocerebellar Ataxia 31	40
2442	c	BRD032	Bardet-Biedl Syndrome 14	40
2443		NTV001	Native American Myopathy	40
2444	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
2445	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
2446	P	WLL010	Woolly Hair Syndrome	39
2447	c	FRN036	Frontonasal Dysplasia 1	39
2448		DHY011	Dihydropyrimidinase Deficiency	39
2449		HYP801	Hyperferritinemia with or Without Cataract	39
2450		EPD023	Epidermolysis Bullosa Simplex with Mottled Pigmentation	39
2451		BLR027	Blue Rubber Bleb Nevus	39
2452	c	BRD035	Bardet-Biedl Syndrome 15	38
2453	c	HYP374	Hypothyroidism, Congenital, Nongoitrous, 1	38
2454	c	LKD009	Leukodystrophy, Hypomyelinating, 5	38
2455	c	MYL058	Myeloproliferative Syndrome, Transient	37
2456		PHS009	Phosphoglycerate Kinase Deficiency	37
2457		PSR016	Psoriatic Juvenile Idiopathic Arthritis	37
2458	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	37
2459	c	RNG008	Ring Chromosome 13	37
2460		FNT005	Fontaine Progeroid Syndrome	37
2461		LYM043	Lymphocytic Hypophysitis	37
2462		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	36
2463	c	ATL011	Atelosteogenesis, Type I	36
2464	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
2465		GLY015	Glycine N-Methyltransferase Deficiency	36
2466		TST043	Testicular Seminoma	36
2467	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	36
2468		CHR659	Chromosome 22q11.2 Duplication Syndrome	36
2469	c	LSS006	Lissencephaly 2	35
2470	P	BNG013	Benign Breast Phyllodes Tumor	35
2471	c	MYP131	Myopathy, Centronuclear, 2	35
2472	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	35
2473		CLD011	Cold Urticaria	34
2474	P	VTR010	Vitreoretinochoroidopathy	34
2475	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	34
2476	c	BRD045	Bardet-Biedl Syndrome 19	34
2477	c	CNG379	Congenital Disorder of Glycosylation, Type It	34
2478	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	33
2479		ADR023	Adrenomyodystrophy	33
2480	c	BRD047	Bardet-Biedl Syndrome 16	33
2481		WDH001	Wdha Syndrome	33
2482	c	DYS165	Dysfibrinogenemia, Congenital	33
2483	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
2484		FRS004	Free Sialic Acid Storage Disorders	33
2485		OCL039	Oculoectodermal Syndrome	32
2486		FCH002	Fuchs' Heterochromic Uveitis	32
2487		DFN007	Deafness Enamel Hypoplasia Nail Defects	32
2488		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	32
2489	c	HYP355	Hypothyroidism, Congenital, Nongoitrous, 3	32
2490	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	32
2491		IRN008	Iron Overload in Africa	32
2492		HYP596	Hypophosphatasia, Childhood	32
2493	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	32
2494		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	32
2495	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
2496	c	SPN105	Spinocerebellar Ataxia 4	31
2497		TTR012	Tetrasomy 9p	31
2498		GST059	Gestational Trophoblastic Tumor	31
2499	c	RNG018	Ring Chromosome 22	31
2500	c	EPL133	Epilepsy, Juvenile Absence 1	31
2501		SPN248	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	31
2502		SYS006	Say Syndrome	31
2503		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	31
2504	P	PLY148	Polydactyly, Preaxial Ii	31
2505		GCH018	Gaucher Disease, Perinatal Lethal	31
2506	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	31
2507	c	BRS007	Breast Malignant Phyllodes Tumor	31
2508	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	31
2509		PHC006	Phacomatosis Pigmentovascularis	31
2510		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	31
2511	c	PNT033	Pontocerebellar Hypoplasia, Type 10	31
2512	c	MCP048	Mucopolysaccharidosis, Type Ivb	30
2513		MYC019	Mycobacterium Marinum	30
2514	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	30
2515		PSD046	Pseudotrisomy 13 Syndrome	30
2516	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
2517	c	CCK002	Cockayne Syndrome Type I	30
2518	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	30
2519	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	30
2520	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
2521		UNC014	Unicentric Castleman Disease	30
2522		DNT045	Dental Anomalies and Short Stature	30
2523	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
2524	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
2525		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	29
2526	c	PNT032	Pontocerebellar Hypoplasia, Type 9	29
2527	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
2528		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
2529		MYC023	Myoclonic Astatic Epilepsy	29
2530		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	29
2531	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	29
2532		MSM004	Mesomelia-Synostoses Syndrome	29
2533		CNG134	Congenitally Corrected Transposition of the Great Arteries	28
2534	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	28
2535		SPN348	Spondylometaphyseal Dysplasia, Axial	28
2536		EXT051	Extracranial Arteriovenous Malformation	28
2537	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	28
2538	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	28
2539		TBL008	Tibial Hemimelia	28
2540	c	CNG198	Congenital Disorder of Glycosylation, Type Il	28
2541	c	RNG010	Ring Chromosome 15	27
2542		CMP075	Campomelia, Cumming Type	27
2543	c	ACR106	Acrocephalopolysyndactyly Type Iii	27
2544		WSM003	Weismann-Netter Syndrome	27
2545		CTN027	Cutaneous Mastocytoma	27
2546	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	27
2547		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	27
2548	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	27
2549	c	CNG497	Congenital Disorde