Rare Diseases Category (12927 diseases)


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