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