Rare Diseases Category (13194 diseases)


Including: rare
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# Family MCID Name MIFTS
1 c MCP037 Mucopolysaccharidosis is 65
2 c MCP038 Mucopolysaccharidosis Iva 48
3 P MCP012 Mucopolysaccharidosis Ih 44
4 c MCP036 Mucopolysaccharidosis Ih/s 34
5 c MCP015 Mucopolysaccharidosis Type Ix 33
6 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
7 P DST002 Distal Arthrogryposis 57
8 c ART120 Arthrogryposis, Distal, Type 3 41
9 c ART117 Arthrogryposis, Distal, Type 2b 38
10 c ART061 Arthrogryposis, Distal, Type 2a 34
11 c ART104 Arthrogryposis, Distal, Type 5d 24
12 c ART112 Arthrogryposis, Distal, Type 10 22
13 c ART122 Arthrogryposis, Distal, Type 8 22
14 c ART128 Arthrogryposis, Distal, Type 6 20
15 c ART060 Arthrogryposis, Distal, Type 1b 19
16 c ART131 Arthrogryposis, Distal, Type 4 18
17 INC002 Inclusion Body Myositis 63
18 SCH068 Schwartz-Jampel Syndrome, Type 1 47
19 c MCP004 Mucopolysaccharidosis Iv 60
20 P MTH008 Methylmalonic Acidemia 56
21 IGG007 Igg4-Related Disease 38
22 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 13
23 c MCR097 Mcee-Related Methylmalonic Acidemia 7
24 c MMR001 Mmaa-Related Methylmalonic Acidemia 6
25 c MMB004 Mmab-Related Methylmalonic Acidemia 6
26 c MTR038 Mut-Related Methylmalonic Acidemia 6
27 c MMD001 Mmadhc-Related Methylmalonic Acidemia 5
28 MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 37
29 ABT001 Abetalipoproteinemia 59
30 PRG097 Paragangliomas 1, with or Without Deafness 42
31 JBR006 Joubert Syndrome with Oculorenal Anomalies 35
32 CRD002 Cri-Du-Chat Syndrome 49
33 WRF003 Warfarin Syndrome 32
34 GLL022 Guillain-Barre Syndrome 55
35 c CHR527 Charcot-Marie-Tooth Disease, Type 1b 47
36 c CHR537 Charcot-Marie-Tooth Disease, Type 1e 46
37 c ORF040 Orofaciodigital Syndrome Viii 43
38 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
39 c ORF034 Orofaciodigital Syndrome Vi 42
40 c CHR535 Charcot-Marie-Tooth Disease, Type 1c 42
41 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 41
42 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 41
43 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
44 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 39
45 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
46 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 39
47 c CHR534 Charcot-Marie-Tooth Disease, Type 1d 38
48 c CHR531 Charcot-Marie-Tooth Disease, Type 2d 36
49 c CHR533 Charcot-Marie-Tooth Disease, Type 1f 36
50 c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 34
51 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
52 c CHR402 Charcot-Marie-Tooth Disease, Type 2a1 33
53 c CHR528 Charcot-Marie-Tooth Disease, Type 2j 33
54 c CHR407 Charcot-Marie-Tooth Disease, Type 4f 32
55 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
56 c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31
57 c CHR529 Charcot-Marie-Tooth Disease, Type 2i 30
58 c CHR485 Charcot-Marie-Tooth Disease, Type 2r 29
59 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
60 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 25
61 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25
62 c CHR419 Charcot-Marie-Tooth Disease, Recessive Intermediate, B 25
63 c ORF036 Orofaciodigital Syndrome Xiv 24
64 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
65 c CHR424 Charcot-Marie-Tooth Disease, Recessive Intermediate, a 22
66 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
67 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
68 c ORF045 Orofaciodigital Syndrome Xv 19
69 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
70 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
71 c CHR551 Charcot-Marie-Tooth Disease Type 2o 16
72 c ORF046 Orofaciodigital Syndrome Xvi 16
73 c CHR577 Charcot-Marie-Tooth Disease Type 2t 15
74 c CHR549 Charcot-Marie-Tooth Disease Type 2l 15
75 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
76 c CHR571 Charcot-Marie-Tooth Disease Type 5 13
77 c CHR550 Charcot-Marie-Tooth Disease Type 2n 13
78 c CHR572 Charcot-Marie-Tooth Disease Type 7 13
79 c CHR624 Charcot-Marie-Tooth Disease Type 2b5 12
80 c CHR553 Charcot-Marie-Tooth Disease Type 2q 11
81 c ATS362 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w 11
82 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
83 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
84 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
85 c ORF039 Orofaciodigital Syndrome Vii 9
86 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 8
87 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 40
88 P SLD010 Sialidosis, Type I 44
89 c JVN036 Juvenile Sialidosis Type 2 8
90 c CNG348 Congenital Sialidosis Type 2 8
91 P FCL005 Focal Segmental Glomerulosclerosis 60
92 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 55
93 c GLM029 Glomerulosclerosis, Focal Segmental, 1 48
94 OPS006 Opsoclonus-Myoclonus Syndrome 45
95 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
96 c GLM033 Glomerulosclerosis, Focal Segmental, 4 29
97 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 29
98 c GLM039 Glomerulosclerosis, Focal Segmental, 6 29
99 c GLM026 Glomerulosclerosis, Focal Segmental, 2 28
100 c GLM027 Glomerulosclerosis, Focal Segmental, 3 27
101 c GLM028 Glomerulosclerosis, Focal Segmental, 5 26
102 c GLM041 Glomerulosclerosis, Focal Segmental, 7 25
103 c FCL053 Focal Segmental Glomerulosclerosis 8 23
104 c FCL055 Focal Segmental Glomerulosclerosis 9 22
105 c EHL057 Ehlers-Danlos Syndrome, Type Iv 59
106 P EPS003 Episodic Ataxia 54
107 HMF006 Hemifacial Microsomia 54
108 c EHL018 Ehlers-Danlos Syndrome Type Ii 42
109 c TYP003 Type I Ehlers-Danlos Syndrome 39
110 c EPS017 Episodic Ataxia, Type 6 36
111 c EHL041 Ehlers-Danlos Syndrome, Type Vii 28
112 MRR014 Mirror Movements 1 and/or Agenesis of the Corpus Callosum 27
113 c EPS037 Episodic Ataxia, Type 4 26
114 c EPS015 Episodic Ataxia, Type 7 24
115 c EPS034 Episodic Ataxia, Type 5 21
116 c EHL065 Ehlers-Danlos Syndrome, Type V 20
117 c EPS014 Episodic Ataxia, Type 3 19
118 c EPS033 Episodic Ataxia, Type 8 18
119 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 8
120 P FRG001 Fragile X Syndrome 67
121 CRT072 Creutzfeldt-Jakob Disease 62
122 P HYP050 Hyperinsulinemic Hypoglycemia 55
123 P DYS098 Dystonia-11, Myoclonic 51
124 WLF002 Wolf-Hirschhorn Syndrome 50
125 c EHL054 Ehlers-Danlos Syndrome, Type Vi 47
126 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 42
127 MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 35
128 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 35
129 ERL046 Early-Onset Generalized Dystonia 32
130 c MCP020 Mucopolysaccharidosis Type Iiic 32
131 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 30
132 c MCP014 Mucopolysaccharidosis Type Iiid 29
133 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 28
134 BRK012 Broken Heart Syndrome 27
135 MTH066 Methylmalonic Acidemia with Homocystinuria Type Cbld 21
136 c DYS175 Dystonia 26, Myoclonic 19
137 c MYC076 Myoclonic Dystonia 15 9
138 RBR001 Roberts Syndrome 61
139 CPR001 Coproporphyria 54
140 CPT003 Cpt Deficiency, Hepatic, Type Ia 42
141 STR079 Sturge-Weber Syndrome, Somatic, Mosaic 36
142 FBR064 Febrile Infection-Related Epilepsy Syndrome 28
143 TNG002 Tangier Disease 62
144 P TMP003 Temporal Arteritis 61
145 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 52
146 P CHN059 Chondrocalcinosis 44
147 PGT008 Paget Disease of Bone 5, Juvenile-Onset 43
148 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 38
149 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 34
150 LYD011 Leydig Cell Hypoplasia 31
151 c DYS170 Dyserythropoietic Anemia, Congenital, Type Ii 28
152 c CHN022 Chondrocalcinosis 2 28
153 c DYS168 Dyserythropoietic Anemia, Congenital, Type Iv 25
154 c DYS155 Dyserythropoietic Anemia, Congenital, Type Ib 24
155 P VLC001 Velocardiofacial Syndrome 64
156 P ALG028 Alagille Syndrome 1 63
157 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61
158 P ALP009 Alopecia Areata 60
159 WLM001 Wolman Disease 58
160 P ESC003 Escobar Syndrome 57
161 LPT001 Leptospirosis 57
162 c SPN294 Spinocerebellar Ataxia 1 56
163 P SPN301 Spinocerebellar Ataxia 2 55
164 c EPS035 Episodic Ataxia, Type 2 54
165 c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 53
166 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
167 CDL003 Caudal Regression Syndrome 50
168 c MCP041 Mucopolysaccharidosis Type Iiia 48
169 MTC056 Mitochondrial Dna Depletion Syndrome 4a 45
170 c SPN265 Spinocerebellar Ataxia 36 42
171 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
172 P OPT048 Opitz-Gbbb Syndrome 39
173 c OPT050 Opitz Gbbb Syndrome, Type Ii 37
174 MLG120 Malignant Migrating Partial Seizures of Infancy 36
175 PRX007 Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 33
176 c SPN095 Spinocerebellar Ataxia 19 33
177 c SPN266 Spinocerebellar Ataxia 35 32
178 c OPT051 Opitz Gbbb Syndrome, Type I 32
179 c ALG016 Alagille Syndrome 2 32
180 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
181 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
182 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
183 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
184 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 28
185 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
186 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
187 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 27
188 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
189 c SPN284 Spinocerebellar Ataxia 38 26
190 c ORF035 Orofaciodigital Syndrome Iv 26
191 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
192 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
193 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
194 c SPN372 Spinocerebellar Ataxia 43 25
195 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
196 c SPN383 Spinocerebellar Ataxia 42 23
197 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
198 c ORF041 Orofaciodigital Syndrome X 23
199 c ALP039 Alopecia Areata 1 22
200 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
201 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 22
202 c SPN323 Spinocerebellar Ataxia 41 20
203 c ALP040 Alopecia Areata 2 19
204 c SPN259 Spinocerebellar Ataxia 32 18
205 c SPN336 Spinocerebellar Ataxia Type 16 16
206 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
207 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
208 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
209 c VLC003 Velocardiofacial Syndrome 2 13
210 c ORF006 Orofaciodigital Syndrome 13 13
211 PCD002 Pcdh19-Related Female-Limited Epilepsy 12
212 c CLM002 Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia 10
213 c JG1001 Jag1-Related Alagille Syndrome 8
214 c NTC001 Notch2-Related Alagille Syndrome 8
215 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
216 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
217 c CSQ001 Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia 6
218 c RYR003 Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia 6
219 c TRD007 Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia 6
220 P WVR001 Weaver Syndrome 60
221 PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 52
222 ORT008 Orotic Aciduria 50
223 c WVR003 Weaver Syndrome 1 19
224 c EZH002 Ezh2-Related Weaver Syndrome 5
225 P TYS001 Tay-Sachs Disease 70
226 P DMN001 Diamond-Blackfan Anemia 70
227 P GCH001 Gaucher's Disease 63
228 KRN002 Kearns-Sayre Syndrome 57
229 WLK001 Walker-Warburg Syndrome 52
230 c LPD015 Lipodystrophy, Familial Partial, Type 2 51
231 c DMN023 Diamond-Blackfan Anemia 1 50
232 JCB001 Jacobsen Syndrome 50
233 c ANM036 Anemia, Sideroblastic, 1 49
234 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 46
235 P ATM019 Autoimmune Polyendocrine Syndrome 43
236 P PSD003 Pseudohypoaldosteronism 43
237 P MGS004 Meige Syndrome 43
238 DYS148 Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia 43
239 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 42
240 c PSD092 Pseudohypoaldosteronism, Type Iie 37
241 P LKN019 Leukoencephalopathy, Diffuse Hereditary, with Spheroids 36
242 TRP006 Tarp Syndrome 34
243 c DMN017 Diamond-Blackfan Anemia 10 32
244 c DMN024 Diamond-Blackfan Anemia 7 30
245 c DMN018 Diamond-Blackfan Anemia 5 30
246 c DMN021 Diamond-Blackfan Anemia 6 30
247 JJN004 Jejunal Atresia 29
248 c GCH013 Gaucher Disease, Type Iiic 29
249 c DMN019 Diamond-Blackfan Anemia 4 29
250 c DMN020 Diamond-Blackfan Anemia 8 28
251 c DMN029 Diamond-Blackfan Anemia 11 28
252 c DMN028 Diamond-Blackfan Anemia 12 28
253 c DMN022 Diamond-Blackfan Anemia 9 27
254 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
255 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
256 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
257 c PSD090 Pseudohypoaldosteronism, Type Iia 23
258 c DMN040 Diamond-Blackfan Anemia 16 22
259 c PSD093 Pseudohypoaldosteronism, Type Iid 22
260 c CNG418 Congenital Intrauterine Infection-Like Syndrome 22
261 c PSD084 Pseudo-Meigs Syndrome 21
262 c DMN030 Diamond-Blackfan Anemia 13 21
263 c PSD068 Pseudohypoaldosteronism, Type Iic 21
264 c PSD094 Pseudohypoaldosteronism, Type Iib 21
265 P ATY012 Atypical Mycobacteriosis, Familial 20
266 c DMN039 Diamond-Blackfan Anemia 17 19
267 c ATS210 Autosomal Recessive Sideroblastic Anemia 17
268 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
269 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
270 c ANM034 Anemia, Sideroblastic, 4 16
271 XLN216 X-Linked Dystonia-Parkinsonism/lubag 16
272 c TRN053 Transient Pseudohypoaldosteronism 15
273 CRN057 Carnitine Palmitoyltransferase I Deficiency , Muscle 13
274 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 13
275 c CSF001 Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids 12
276 c TYS005 Tay-Sachs Disease, B1 Variant 12
277 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 12
278 CHR555 Chromosome 3p- Syndrome 11
279 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 11
280 c RPS005 Rps19-Related Diamond-Blackfan Anemia 10
281 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 9
282 c RPL003 Rpl5-Related Diamond-Blackfan Anemia 9
283 c RPS003 Rps10-Related Diamond-Blackfan Anemia 9
284 c RPS006 Rps24-Related Diamond-Blackfan Anemia 9
285 c RPS007 Rps26-Related Diamond-Blackfan Anemia 9
286 c FML106 Familial Atypical Mycobacteriosis, Tyk2-Related 9
287 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 8
288 c RPL001 Rpl11-Related Diamond-Blackfan Anemia 8
289 c RPL005 Rpl15-Related Diamond-Blackfan Anemia 8
290 c RPL002 Rpl35a-Related Diamond-Blackfan Anemia 8
291 c RPS004 Rps17-Related Diamond-Blackfan Anemia 8
292 c RPS008 Rps7-Related Diamond-Blackfan Anemia 8
293 c PSD023 Pseudo-Gaucher Disease 8
294 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
295 c GT1008 Gata1-Related Diamond-Blackfan Anemia 6
296 c RPL004 Rpl26-Related Diamond-Blackfan Anemia 6
297 c ATS269 Autosomal Dominant Sideroblastic Anemia 6
298 c FML101 Familial Atypical Mycobacteriosis, Ifngr1-Related 4
299 c FML102 Familial Atypical Mycobacteriosis, Ifngr2-Related 4
300 c FML103 Familial Atypical Mycobacteriosis, Il12b-Related 4
301 c FML104 Familial Atypical Mycobacteriosis, Il12rb1-Related 4
302 c FML105 Familial Atypical Mycobacteriosis, Stat1-Related 4
303 LSC001 Lesch-Nyhan Syndrome 62
304 MTC007 Mitochondrial Complex I Deficiency 62
305 c JBR020 Joubert Syndrome 1 61
306 P ADL010 Adult Respiratory Distress Syndrome 60
307 c ESS001 Essential Tremor 58
308 ARG002 Argininosuccinic Aciduria 58
309 LKN001 Leukoencephalopathy with Vanishing White Matter 57
310 c ACT210 Acute Respiratory Distress Syndrome 56
311 P INT001 Intrahepatic Cholestasis 56
312 P TRM003 Tremor 53
313 P HYP097 Hyperekplexia 52
314 P CRN038 Carney Complex Variant 51
315 c PRK031 Parkinson Disease 1 51
316 c SPN291 Spinocerebellar Ataxia 7 51
317 FNC009 Fanconi-Bickel Syndrome 51
318 CHN055 Chanarin-Dorfman Syndrome 50
319 c PRK024 Parkinson Disease, Juvenile, Type 2 48
320 c TYR013 Tyrosinemia, Type Ii 47
321 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
322 3MS007 3-M Syndrome 1 45
323 P TYR004 Tyrosinemia 44
324 BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 44
325 P INF016 Infantile Epileptic Encephalopathy 44
326 c PRK059 Parkinson Disease 8 42
327 c PRK020 Parkinson Disease 6, Early Onset 41
328 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
329 c PRK030 Parkinson Disease 4 41
330 c PRK025 Parkinson Disease 10 40
331 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 38
332 BST007 Best Vitelliform Macular Dystrophy 37
333 c PRK045 Parkinson Disease 5 37
334 P JBR003 Joubert Syndrome and Related Disorders 37
335 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
336 P MCR241 Microphthalmia, Syndromic 3 34
337 c ERL047 Early-Onset Parkinson Disease 34
338 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
339 c CRN243 Carney Complex, Type 1 32
340 c PRK051 Parkinson Disease 18 32
341 c PRK026 Parkinson Disease 11 31
342 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
343 c PRK052 Parkinson Disease 17 30
344 c JBR012 Joubert Syndrome 5 30
345 GNT020 Giant Congenital Nevus 29
346 c JBR015 Joubert Syndrome 6 29
347 c JBR041 Joubert Syndrome 3 29
348 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 29
349 c JBR018 Joubert Syndrome 4 29
350 c PRK037 Parkinson Disease 13 28
351 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
352 SCR037 Sucrase-Isomaltase Deficiency, Congenital 28
353 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
354 c PRK070 Parkinson Disease 21 27
355 c JBR016 Joubert Syndrome 10 27
356 c JBR024 Joubert Syndrome 14 27
357 c JBR014 Joubert Syndrome 9 27
358 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
359 c JBR011 Joubert Syndrome 7 27
360 c SNC002 Snca-Related Parkinson Disease 26
361 c JBR031 Joubert Syndrome 21 26
362 c JBR026 Joubert Syndrome 15 26
363 c JBR022 Joubert Syndrome 20 26
364 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
365 c JBR013 Joubert Syndrome 8 26
366 c PRK065 Parkinson Disease 20, Early-Onset 25
367 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
368 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
369 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
370 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
371 c JBR021 Joubert Syndrome 18 24
372 c JBR027 Joubert Syndrome 16 24
373 c JBR037 Joubert Syndrome 26 24
374 SSR001 Ssr4-Cdg 24
375 c ORF033 Orofaciodigital Syndrome V 24
376 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
377 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
378 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 24
379 c PRK022 Parkinson Disease 12 24
380 c JBR025 Joubert Syndrome 17 24
381 c JBR030 Joubert Syndrome 22 24
382 c JBR035 Joubert Syndrome 24 24
383 c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 24
384 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
385 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
386 c MCR228 Microphthalmia, Syndromic 13 23
387 c HRD173 Hereditary Late-Onset Parkinson Disease 23
388 c JBR042 Joubert Syndrome 23 23
389 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
390 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
391 c MCR217 Microphthalmia, Syndromic 11 23
392 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
393 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
394 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
395 c ADL080 Adult Acute Respiratory Distress Syndrome 22
396 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
397 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
398 c JBR028 Joubert Syndrome 13 21
399 c ORF043 Orofaciodigital Syndrome Ix 21
400 c PRK079 Parkinson Disease 23, Autosomal Recessive, Early Onset 21
401 c JBR036 Joubert Syndrome 25 21
402 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
403 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
404 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
405 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
406 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
407 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
408 c HYP519 Hyperekplexia 3 20
409 c PRK058 Parkinson Disease 16 20
410 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
411 c ORF042 Orofaciodigital Syndrome Xi 19
412 c HYP536 Hyperekplexia 2, Autosomal Recessive 19
413 c JBR039 Joubert Syndrome 28 19
414 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
415 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
416 c JBR038 Joubert Syndrome 27 19
417 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
418 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
419 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
420 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
421 c TRM017 Tremor, Hereditary Essential, 4 18
422 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
423 BLP010 Blepharophimosis Intellectual Disability Syndromes 18
424 c HYP699 Hyperekplexia 1 18
425 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
426 c LRR001 Lrrk2-Related Parkinson Disease 17
427 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
428 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
429 c PL2003 Pla2g6-Related Parkinson Disease 17
430 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
431 c TRM022 Tremor, Hereditary Essential, 5 16
432 c JVN052 Juvenile-Onset Parkinson Disease 16
433 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
434 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
435 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
436 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
437 c JBR040 Joubert Syndrome 30 15
438 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
439 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
440 c PRK083 Parkinson Disease 22, Autosomal Dominant 13
441 c VPS003 Vps35-Related Parkinson Disease 13
442 c ABC009 Abcb11-Related Intrahepatic Cholestasis 12
443 c FBX001 Fbxo7-Related Parkinson Disease 12
444 c SPR097 Sporadic Hyperekplexia 12
445 c C5R001 C5orf42-Related Joubert Syndrome 11
446 c CSP004 Cspp1-Related Joubert Syndrome 11
447 c AH1001 Ahi1-Related Joubert Syndrome 10
448 c CP2002 Cep290-Related Joubert Syndrome 10
449 c NPH040 Nphp1-Related Joubert Syndrome 10
450 c EF4001 Eif4g1-Related Parkinson Disease 10
451 c ARL002 Arl13b-Related Joubert Syndrome 10
452 c CC2001 Cc2d2a-Related Joubert Syndrome 10
453 c CP4001 Cep41-Related Joubert Syndrome 10
454 c K05001 Kiaa0586-Related Joubert Syndrome 10
455 c KF7001 Kif7-Related Joubert Syndrome 10
456 c OFD001 Ofd1-Related Joubert Syndrome 10
457 c PD6004 Pde6d-Related Joubert Syndrome 10
458 c TCT003 Tctn1-Related Joubert Syndrome 10
459 c TCT006 Tctn3-Related Joubert Syndrome 10
460 c TMM003 Tmem216-Related Joubert Syndrome 10
461 c TMM005 Tmem237-Related Joubert Syndrome 10
462 c TMM006 Tmem67-Related Joubert Syndrome 10
463 c TTC001 Ttc21b-Related Joubert Syndrome 10
464 c GGY001 Gigyf2-Related Parkinson Disease 10
465 c HTR006 Htra2-Related Parkinson Disease 10
466 c ATP006 Atp8b1-Related Intrahepatic Cholestasis 10
467 c TCT004 Tctn2-Related Joubert Syndrome 9
468 c TMM002 Tmem138-Related Joubert Syndrome 9
469 c TMM009 Tmem231-Related Joubert Syndrome 9
470 c ZNF004 Znf423-Related Joubert Syndrome 9
471 c SYN072 Synj1-Related Parkinson Disease 9
472 c DNJ003 Dnajc6-Related Parkinson Disease 8
473 c PRK015 Park7-Related Parkinson Disease 8
474 c TRM016 Tremor, Hereditary Essential, 3 8
475 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 7
476 c INP002 Inpp5e-Related Joubert Syndrome 7
477 c RPG001 Rpgrip1l-Related Joubert Syndrome 7
478 c ARH002 Arhgef9-Related Hyperekplexia 6
479 c GLR001 Glra1-Related Hyperekplexia 6
480 c GLR002 Glrb-Related Hyperekplexia 6
481 c GPH001 Gphn-Related Hyperekplexia 6
482 c SLC017 Slc6a5-Related Hyperekplexia 6
483 P LGH007 Leigh Syndrome 69
484 P KRB001 Krabbe Disease 69
485 P CSH001 Cushing's Syndrome 65
486 BHC003 Behcet Syndrome 62
487 P MYM002 Moyamoya Disease 60
488 DNG003 Dengue Disease 60
489 MSM014 Mismatch Repair Cancer Syndrome 59
490 P CNV004 Canavan Disease 55
491 MCR094 Microvillus Inclusion Disease 50
492 GLC012 Galactosialidosis 49
493 BLL003 Bell's Palsy 45
494 LCH005 Lchad Deficiency 41
495 GRN039 Greenberg Skeletal Dysplasia 36
496 c INF122 Infantile Krabbe Disease 24
497 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 22
498 GGN004 Gigantomastia 22
499 c LGH008 Leigh-Like Syndrome 21
500 c MYM004 Moyamoya Disease 2 20
501 c MYM003 Moyamoya Disease 5 19
502 c SVR048 Severe Canavan Disease 17
503 c ADL071 Adult Krabbe Disease 15
504 c MYM005 Moyamoya Disease 3 14
505 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
506 P CWD001 Cowden Disease 65
507 P TRN020 Turner Syndrome 65
508 c GLY008 Glycogen Storage Disease Ii 61
509 P GLY013 Glycogen Storage Disease 59
510 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57
511 IMM111 Immunodeficiency, X-Linked, with Hyper-Igm 55
512 P TWN003 Townes-Brocks Syndrome 54
513 c THN010 Thanatophoric Dysplasia, Type Ii 51
514 c CWD006 Cowden Syndrome 1 51
515 P SJG002 Sjogren-Larsson Syndrome 51
516 MBS002 Moebius Syndrome 49
517 MGL001 Megaloblastic Anemia 49
518 ESN020 Eosinophilic Granulomatosis with Polyangiitis 43
519 RCR004 Recurrent Respiratory Papillomatosis 41
520 INC022 Inclusion-Cell Disease 39
521 c CHL120 Cholestasis, Benign Recurrent Intrahepatic 38
522 NCR001 Necrotizing Ulcerative Gingivitis 38
523 c GLY057 Glycogen Storage Disease X 33
524 c GLY023 Glycogen Storage Disease Type 0 33
525 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 32
526 c GLY044 Glycogen Storage Disease Ixc 31
527 c GLY042 Glycogen Storage Disease Xi 30
528 CHR594 Chromosome 3q29 Deletion Syndrome 28
529 c CWD008 Cowden Syndrome 6 28
530 P SPR041 Spermatogenic Failure 6 27
531 c GLY009 Glycogen Storage Disease Xv 26
532 c CWD004 Cowden Syndrome 5 26
533 c GLY017 Glycogen Storage Disease Ic 25
534 c CWD003 Cowden Syndrome 2 25
535 c TWN011 Townes-Brocks Syndrome 1 24
536 c CWD007 Cowden Syndrome 3 23
537 c CWD005 Cowden Syndrome 4 23
538 TMF001 Tumefactive Multiple Sclerosis 23
539 c SPR086 Spermatogenic Failure 3 20
540 c CWD009 Cowden Syndrome 7 19
541 c SPR043 Spermatogenic Failure 9 18
542 OPH015 Ophn1 Syndrome 18
543 c SPR061 Spermatogenic Failure 5 18
544 c SPR042 Spermatogenic Failure 8 16
545 c SPR088 Spermatogenic Failure 7 16
546 XLN215 X-Linked Congenital Generalized Hypertrichosis 15
547 c SPR082 Spermatogenic Failure 10 15
548 c SPR087 Spermatogenic Failure 12 15
549 c SPR081 Spermatogenic Failure 11 15
550 c TWN010 Townes-Brocks Syndrome 2 15
551 PLL005 Pallister-Killian Mosaic Syndrome 14
552 c GLY093 Glycogen Storage Disease Ixa 14
553 c SPR111 Spermatogenic Failure 16 14
554 c SPR095 Spermatogenic Failure 14 14
555 c SPR096 Spermatogenic Failure 13 14
556 c SPR116 Spermatogenic Failure 15 14
557 c GLY001 Glycogen Storage Disease Ix 13
558 c SPR110 Spermatogenic Failure 17 13
559 c SPR115 Spermatogenic Failure 19 12
560 c SPR113 Spermatogenic Failure 18 12
561 c SPR114 Spermatogenic Failure 20 12
562 c SPR112 Spermatogenic Failure 21 11
563 ZLT002 Zlotogora Syndrome 11
564 c SPR084 Spermatogenic Failure 2 11
565 PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 10
566 HYP171 Hyperphenylalaninemia Due to Dehydratase Deficiency 10
567 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 7
568 P MTC003 Metachromatic Leukodystrophy 70
569 SMT004 Smith-Lemli-Opitz Syndrome 69
570 CNT098 Central Core Disease 66
571 c HMP029 Hemophilia a 64
572 P AMY004 Amyloidosis 64
573 P MCH002 Machado-Joseph Disease 62
574 NRR002 Norrie Disease 62
575 c MCP024 Mucopolysaccharidosis Type Vi 61
576 PRT036 Peritonitis 60
577 P HLT001 Holt-Oram Syndrome 60
578 PRP084 Propionicacidemia 57
579 PRD019 Periodic Fever, Familial 56
580 c ALM001 Al Amyloidosis 56
581 c GLY060 Glycogen Storage Disease Ia 55
582 PRP083 Porphyria, Acute Intermittent 55
583 WGR001 Wagr Syndrome 53
584 P GLT023 Glutaric Acidemia Iic 49
585 PPL049 Papillon-Lefevre Syndrome 49
586 P NML001 Nemaline Myopathy 47
587 GRS011 Gerstmann-Straussler Disease 44
588 HYP286 Hyperchylomicronemia, Late-Onset 43
589 c SVR056 Severe Hemophilia a 43
590 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 43
591 c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42
592 CNT099 Contractural Arachnodactyly, Congenital 41
593 MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 41
594 c MYP072 Myopathy, Myofibrillar, 1 41
595 c MYP082 Myopathy, Myofibrillar, 2 40
596 P MYF003 Myofibrillar Myopathy 40
597 c MYP078 Myopathy, Myofibrillar, 3 35
598 c MYP079 Myopathy, Myofibrillar, 5 34
599 c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 33
600 c BRT038 Baraitser-Winter Syndrome 1 32
601 c SVR057 Severe Hemophilia B 31
602 FLR001 Filarial Elephantiasis 31
603 P BRT040 Baraitser-Winter Syndrome 31
604 VRT007 Vertical Talus, Congenital 31
605 MHR002 Mohr Syndrome 31
606 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 30
607 c NML017 Nemaline Myopathy 4, Autosomal Dominant 30
608 c NML014 Nemaline Myopathy 1, Autosomal Dominant or Recessive 30
609 c NML009 Nemaline Myopathy 2, Autosomal Recessive 28
610 c MYP080 Myopathy, Myofibrillar, 4 27
611 c MYP081 Myopathy, Myofibrillar, 6 27
612 P XLN161 X-Linked Chondrodysplasia Punctata 26
613 SCP008 Scapuloperoneal Syndrome, Myopathic Type 25
614 c NML022 Nemaline Myopathy 10 25
615 c NML018 Nemaline Myopathy 7, Autosomal Recessive 24
616 c NML019 Nemaline Myopathy 6, Autosomal Dominant 24
617 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
618 c BRT039 Baraitser-Winter Syndrome 2 24
619 c NML021 Nemaline Myopathy 9 23
620 c NML016 Nemaline Myopathy 8, Autosomal Recessive 23
621 c ORF038 Orofaciodigital Syndrome Iii 22
622 c PRM150 Primary Localized Amyloidosis 22
623 STB002 Satb2-Associated Syndrome 22
624 CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 21
625 P PRV016 Periventricular Nodular Heterotopia 6 21
626 c MYP119 Myopathy, Myofibrillar, 7 20
627 c NML024 Nemaline Myopathy 11, Autosomal Recessive 19
628 MLL009 Mullerian Aplasia 19
629 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 18
630 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 18
631 c MYP118 Myopathy, Myofibrillar, 8 18
632 2MT001 2-Methyl-3-Hydroxybutyric Aciduria 17
633 c PRV018 Periventricular Nodular Heterotopia 7 16
634 c AHM002 Ah Amyloidosis 16
635 c CHN018 Chondrodysplasia Punctata 2, X-Linked 16
636 ISD002 Isodicentric Chromosome 15 Syndrome 15
637 c FLN007 Flna-Related Periventricular Nodular Heterotopia 14
638 c ACT122 Acta1-Related Nemaline Myopathy 14
639 c PRV013 Periventricular Nodular Heterotopia 3 13
640 c MCH014 Machado-Joseph Disease Type 2 12
641 c MCH013 Machado-Joseph Disease Type 3 12
642 c MCH012 Machado-Joseph Disease Type 1 12
643 c CHN017 Chondrodysplasia Punctata 1, X-Linked 12
644 c LMD001 Lmod3-Related Nemaline Myopathy 12
645 c NBR001 Neb-Related Nemaline Myopathy 12
646 c TBX001 Tbx5-Related Holt-Oram Syndrome 11
647 c KLH003 Klhl40-Related Nemaline Myopathy 11
648 c KBT001 Kbtbd13-Related Nemaline Myopathy 10
649 c TPM004 Tpm2-Related Nemaline Myopathy 10
650 c TNN009 Tnnt1-Related Nemaline Myopathy 10
651 c CFL004 Cfl2-Related Nemaline Myopathy 10
652 c KLH004 Klhl41-Related Nemaline Myopathy 9
653 c TPM006 Tpm3-Related Nemaline Myopathy 9
654 c DNJ002 Dnajb6-Related Myofibrillar Myopathy 7
655 c FHL002 Fhl1-Related Myofibrillar Myopathy 7
656 c SLL007 Sall4-Related Holt-Oram Syndrome 4
657 FBR012 Fabry Disease 71
658 P RFS001 Refsum Disease 61
659 P INT143 Interstitial Cystitis 54
660 P EPN002 Ependymoma 53
661 P FRS014 Fraser Syndrome 1 51
662 MLL012 Miller Syndrome 50
663 SND002 Sneddon Syndrome 48
664 ACR058 Acrofacial Dysostosis 1, Nager Type 41
665 BLC001 Blue Cone Monochromacy 41
666 c CHR020 Chronic Interstitial Cystitis 41
667 c MLG064 Malignant Ependymoma 40
668 XLN003 X-Linked Sideroblastic Anemia with Ataxia 36
669 c BNG030 Benign Ependymoma 33
670 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 32
671 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 26
672 c MLG023 Malignant Adult Ependymoma 19
673 c FRS015 Fraser Syndrome 3 18
674 c FRS016 Fraser Syndrome 2 17
675 c PX7001 Pex7-Related Refsum Disease 6
676 c PHY003 Phyh-Related Refsum Disease 5
677 c FRS009 Fras1-Related Fraser Syndrome 5
678 c FRM009 Frem2-Related Fraser Syndrome 5
679 c GRP006 Grip1-Related Fraser Syndrome 5
680 c MCP009 Mucopolysaccharidosis Ii 62
681 BLS001 Blau Syndrome 61
682 MCR013 Microphthalmia 59
683 P ACR001 Aicardi-Goutieres Syndrome 56
684 KLP010 Klippel-Trenaunay-Weber Syndrome 55
685 P PRX021 Proximal Symphalangism 50
686 P PRM002 Primary Hyperoxaluria 50
687 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 49
688 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 48
689 P CHR345 Chronic Pain 48
690 FRB001 Farber Lipogranulomatosis 47
691 P BRC015 Bruck Syndrome 45
692 FCT022 Factor Xi Deficiency, Autosomal Recessive 44
693 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
694 TTZ003 Tietz Albinism-Deafness Syndrome 41
695 c ART119 Arthrogryposis, Distal, Type 5 41
696 LCH011 Lichen Planopilaris 41
697 TLR001 Tularemia 41
698 c HYP617 Hyperoxaluria, Primary, Type 1 40
699 BZX001 Bazex Syndrome 38
700 HYP550 Hypomagnesemia 1, Intestinal 38
701 P CRD132 Cardiac Conduction Defect 36
702 c DNT027 Dentin Dysplasia, Type Ii 35
703 P DNT009 Dentin Dysplasia 34
704 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34
705 c ALB019 Albinism, Oculocutaneous, Type Iv 33
706 CNG064 Congenital Chloride Diarrhea 33
707 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
708 P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 30
709 c ACR081 Aicardi-Goutieres Syndrome 6 29
710 c CNT068 Central Pain Syndrome 29
711 c FML250 Familial Progressive Cardiac Conduction Defect 29
712 CRY032 Carey-Fineman-Ziter Syndrome 28
713 c ALB020 Albinism, Oculocutaneous, Type Iii 28
714 c BRC047 Bruck Syndrome 1 28
715 c ALB015 Albinism, Oculocutaneous, Type V 27
716 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 27
717 PHS010 Phosphoglycerate Mutase Deficiency 26
718 c ALB017 Albinism, Oculocutaneous, Type Vi 26
719 c ALB016 Albinism, Oculocutaneous, Type Vii 25
720 c ACR084 Aicardi-Goutieres Syndrome 7 24
721 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 23
722 GNT018 Gianotti Crosti Syndrome 21
723 P TRC031 Trichorhinophalangeal Syndrome 21
724 MYC001 Myoclonic Cerebellar Dyssynergia 20
725 c SYM022 Symphalangism, Proximal, 1a 19
726 NVD003 Nevoid Hypermelanosis, Linear and Whorled 19
727 c SYM019 Symphalangism, Proximal, 1b 17
728 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
729 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 13
730 PLM069 Pulmonary Venous Return Anomaly 13
731 c ADR045 Adar-Related Aicardi-Goutieres Syndrome 7
732 c IFH001 Ifih1-Related Aicardi-Goutieres Syndrome 7
733 NRL016 Neural Tube Defects 76
734 CRH001 Crohn's Disease 73
735 c MLT024 Multiple Endocrine Neoplasia Iia 62
736 P STH001 Saethre-Chotzen Syndrome 60
737 SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 55
738 ACR008 Acrocallosal Syndrome 55
739 P MLT074 Multiple Endocrine Neoplasia 54
740 MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54
741 HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53
742 RSS002 Roussy-Levy Syndrome 53
743 c MLT086 Multiple Endocrine Neoplasia, Type Iv 50
744 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 48
745 TRY002 Troyer Syndrome 48
746 P FML035 Familial Hyperlipidemia 47
747 ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45
748 ADN001 Adenosine Deaminase Deficiency 44
749 P MLG086 Malignant Hyperthermia Susceptibility 44
750 DNT016 Dentatorubro-Pallidoluysian Atrophy 44
751 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
752 CRY001 Cryptogenic Organizing Pneumonia 41
753 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
754 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
755 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
756 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
757 P AMY084 Amyloidosis, Finnish Type 37
758 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
759 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
760 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
761 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
762 c MLG132 Malignant Hyperthermia Susceptibility 1 36
763 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
764 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
765 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
766 KKC001 Kikuchi Disease 34
767 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
768 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
769 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
770 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
771 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
772 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
773 ATX019 Ataxia with Vitamin E Deficiency 33
774 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
775 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 33
776 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
777 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
778 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
779 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
780 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
781 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
782 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 31
783 c HRD185 Hereditary Spastic Paraplegia 3a 31
784 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
785 CRN141 Corneal Dystrophy, Reis-Bucklers Type 31
786 SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 31
787 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 31
788 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
789 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
790 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
791 MCL072 Macular Dystrophy, North Carolina Type 30
792 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
793 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
794 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
795 P SPS012 Spastic Paraplegia 3a 29
796 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
797 FRS007 Frias Syndrome 28
798 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
799 7Q1002 7q11.23 Duplication Syndrome 28
800 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
801 SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 28
802 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 28
803 c EPP014 Epiphyseal Dysplasia, Multiple, 4 27
804 CHL109 Childhood Apraxia of Speech 27
805 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
806 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
807 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
808 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 26
809 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
810 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
811 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
812 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
813 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
814 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
815 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
816 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
817 c SPS200 Spastic Paraplegia 62 24
818 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
819 c HRD186 Hereditary Spastic Paraplegia 51 24
820 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
821 c EPP009 Epiphyseal Dysplasia, Multiple, 6 24
822 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
823 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 24
824 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
825 c SPS135 Spastic Paraplegia 63 24
826 c SPS020 Spastic Paraplegia 1 23
827 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
828 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
829 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 22
830 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
831 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
832 ART037 Arthrogryposis and Ectodermal Dysplasia 22
833 NCR015 Necrotizing Autoimmune Myopathy 21
834 PNT003 Pinta Disease 21
835 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
836 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
837 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
838 c SPS054 Spastic Paraplegia 35 19
839 c FML249 Familial Amyloidosis, Finnish Type 19
840 c SPS175 Spastic Paraplegia 49 16
841 c SPS064 Spastic Paraplegia 45 16
842 c HYP163 Hyperlipidemia Type 3 16
843 c SPS173 Spastic Paraplegia 43 15
844 c SPS174 Spastic Paraplegia 46 15
845 MCR265 Macrozoospermia 15
846 c SPS052 Spastic Paraplegia 30 14
847 c SPS165 Spastic Paraplegia 47 14
848 c SPS181 Spastic Paraplegia 72 14
849 c SPS056 Spastic Paraplegia 44 14
850 c HRD187 Hereditary Spastic Paraplegia 62 13
851 c HRD188 Hereditary Spastic Paraplegia 72 13
852 c RYR001 Ryr1-Related Malignant Hyperthermia Susceptibility 13
853 c SPS053 Spastic Paraplegia 33 13
854 c SPS177 Spastic Paraplegia 54 13
855 c SPS179 Spastic Paraplegia 57 13
856 c SPS180 Spastic Paraplegia 61 13
857 c SPS166 Spastic Paraplegia 50 13
858 c ORF005 Orofaciodigital Syndrome 12 12
859 c SPS164 Spastic Paraplegia 28 12
860 c SPS055 Spastic Paraplegia 42 12
861 c SPS167 Spastic Paraplegia 52 12
862 c SPS178 Spastic Paraplegia 55 12
863 c SPS168 Spastic Paraplegia 56 12
864 P CLS050 Classical-Like Ehlers-Danlos Syndrome 12
865 FBX003 Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome 12
866 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
867 c SPS076 Spastic Paraplegia 48 11
868 c SPS140 Spastic Paraplegia 64 11
869 c SPS182 Spastic Paraplegia 75 11
870 c SPS201 Spastic Paraplegia 76 11
871 c SPS199 Spastic Paraplegia 59 11
872 c MLT030 Multiple Epiphyseal Dysplasia, Dominant 10
873 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
874 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
875 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
876 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
877 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
878 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
879 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
880 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
881 FTL028 Fetal Retinoid Syndrome 10
882 c CL9001 Col9a1-Related Multiple Epiphyseal Dysplasia 10
883 c CL9003 Col9a2-Related Multiple Epiphyseal Dysplasia 10
884 c SPS176 Spastic Paraplegia 53 10
885 c SPS169 Spastic Paraplegia 66 10
886 HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 10
887 c CL9005 Col9a3-Related Multiple Epiphyseal Dysplasia 9
888 SLC027 Slc35a2-Cdg 9
889 MTH067 Methylmalonic Acidemia with Homocystinuria Type Cblj 8
890 CHR554 Chromosome 17q11.2 Deletion Syndrome 7
891 c EHL023 Ehlers-Danlos Syndrome, Classic Type, Col5a1-Related 6
892 c EHL024 Ehlers-Danlos Syndrome, Classic Type, Col5a2-Related 6
893 c CCN005 Cacna1s-Related Malignant Hyperthermia Susceptibility 6
894 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
895 c EHL022 Ehlers-Danlos Syndrome, Classic Type, Col1a1-Related 5
896 c MHS002 Mhs2-Related Malignant Hyperthermia Susceptibility 5
897 c MHS003 Mhs3-Related Malignant Hyperthermia Susceptibility 5
898 c MHS004 Mhs4-Related Malignant Hyperthermia Susceptibility 5
899 c MHS005 Mhs6-Related Malignant Hyperthermia Susceptibility 5
900 c STH004 Saethre-Chotzen Syndrome, Fgfr2-Related 5
901 P KLL001 Kallmann Syndrome 62
902 STF001 Stiff-Person Syndrome 56
903 SHP002 Shprintzen-Goldberg Syndrome 55
904 c GRS014 Griscelli Syndrome, Type 2 53
905 P ADM011 Adams-Oliver Syndrome 50
906 PRP082 Porphyria, Congenital Erythropoietic 48
907 P PLM006 Pulmonary Alveolar Proteinosis 46
908 CHR105 Choreoacanthocytosis 46
909 DYS022 Dyschromatosis Symmetrica Hereditaria 46
910 SNG010 Single Median Maxillary Central Incisor 45
911 c 3MT015 3-Methylglutaconic Aciduria, Type I 41
912 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 40
913 P FNG006 Feingold Syndrome 1 40
914 P 3MT007 3-Methylglutaconic Aciduria 38
915 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33
916 CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 32
917 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 32
918 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 31
919 IMM096 Immunodeficiency 30 31
920 c ADM005 Adams-Oliver Syndrome 1 30
921 MNT006 Manitoba Oculotrichoanal Syndrome 28
922 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 28
923 BLP043 Blepharocheilodontic Syndrome 27
924 c MCR245 Microphthalmia, Syndromic 8 27
925 c ADM009 Adams-Oliver Syndrome 4 25
926 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 25
927 c ADM007 Adams-Oliver Syndrome 2 24
928 c ADM008 Adams-Oliver Syndrome 3 24
929 c ADM010 Adams-Oliver Syndrome 5 24
930 c FNG009 Feingold Syndrome 2 23
931 c ADM012 Adams-Oliver Syndrome 6 22
932 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 19
933 c SCN051 Secondary Pulmonary Alveolar Proteinosis 18
934 INS024 Insulin-Like Growth Factor I 75
935 P DYS007 Dyskeratosis Congenita 66
936 P LPS004 Lupus Erythematosus 63
937 BLM001 Bloom Syndrome 61
938 P CMR001 Camurati-Engelmann Disease 59
939 KDS001 Kid Syndrome 57
940 c MYT020 Myotonic Dystrophy 2 57
941 P AGM005 Agammaglobulinemia, X-Linked 1 56
942 CCH002 Coach Syndrome 56
943 WLF001 Wolff-Parkinson-White Syndrome 55
944 ALK013 Alkaptonuria 54
945 P HYP345 Hyper-Ige Recurrent Infection Syndrome 54
946 ARS001 Aarskog-Scott Syndrome 54
947 PTT049 Pituitary Adenoma, Acth-Secreting 54
948 RHB001 Rhabdoid Cancer 53
949 ASP005 Asphyxiating Thoracic Dystrophy 53
950 CHK001 Chikungunya 53
951 SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51
952 P NNT009 Neonatal Diabetes Mellitus 51
953 LKC005 Leukocyte Adhesion Deficiency, Type Iii 51
954 P TRC086 Trichohepatoenteric Syndrome 1 51
955 PRM028 Paramyotonia Congenita 49
956 ICH054 Ichthyosis, X-Linked 49
957 DNN001 Danon Disease 48
958 BRD025 Birdshot Chorioretinopathy 48
959 KRT010 Kartagener Syndrome 46
960 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45
961 MLT113 Multicentric Castleman Disease 45
962 HYP299 Hyperostosis, Endosteal 44
963 PRT003 Partington Syndrome 44
964 HYP691 Hypomelanosis of Ito 44
965 P PRM001 Primary Cutaneous Amyloidosis 44
966 c MCR256 Microphthalmia, Syndromic 9 43
967 FSH001 Fish-Eye Disease 43
968 P ART121 Arthrogryposis Multiplex Congenita, Distal, Type 1 43
969 ECS001 Eec Syndrome 42
970 UNV001 Unverricht-Lundborg Syndrome 41
971 ANT024 Anthrax Disease 41
972 MTC054 Mitochondrial Dna Depletion Syndrome 7 39
973 c OTP007 Otopalatodigital Syndrome, Type Ii 39
974 P MLT072 Multiple Synostoses Syndrome 38
975 c SYS061 Systemic Lupus Erythematosus 16 38
976 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
977 CHN057 Chondrodysplasia, Grebe Type 35
978 STV004 Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 35
979 c MLT059 Multiple Synostoses Syndrome 1 35
980 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34
981 c RTS003 Ritscher-Schinzel Syndrome 1 34
982 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
983 c TRC078 Trichohepatoenteric Syndrome 2 34
984 CRN247 Corneal Dystrophy, Thiel-Behnke Type 33
985 P ANT071 Anterior Segment Dysgenesis 4 33
986 c SYS043 Systemic Lupus Erythematosus 1 32
987 PST020 Postpoliomyelitis Syndrome 31
988 PLY119 Polymicrogyria, Bilateral Perisylvian 31
989 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
990 OCL034 Oculocerebrocutaneous Syndrome 30
991 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 29
992 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 28
993 CNG133 Congenital Varicella Syndrome 28
994 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 28
995 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 27
996 c SYS038 Systemic Lupus Erythematosus 2 27
997 RCH002 Richards-Rundle Syndrome 27
998 3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 26
999 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 26
1000 DTH005 Diethylstilbestrol Syndrome 25
1001 P RTS001 Ritscher-Schinzel Syndrome 25
1002 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
1003 c SYS046 Systemic Lupus Erythematosus 3 24
1004 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
1005 c SYS041 Systemic Lupus Erythematosus 9 23
1006 c GLY043 Glycogen Storage Disease Xii 23
1007 c DBT065 Diabetes Mellitus, Transient Neonatal 2 23
1008 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 23
1009 c SYS053 Systemic Lupus Erythematosus 5 23
1010 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 22
1011 c SYS051 Systemic Lupus Erythematosus 4 22
1012 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
1013 c SYS040 Systemic Lupus Erythematosus 10 22
1014 c SYS055 Systemic Lupus Erythematosus 12 22
1015 c RTS002 Ritscher-Schinzel Syndrome 2 22
1016 P OTP001 Otopalatodigital Syndrome 22
1017 c MLT078 Multiple Synostoses Syndrome 3 21
1018 GRD004 Gardner-Diamond Syndrome 20
1019 LMB014 Limb-Body Wall Complex 20
1020 ACT160 Actinic Lichen Planus 20
1021 c SYS067 Systemic Lupus Erythematosus 15 20
1022 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 20
1023 SHP004 Shprintzen Omphalocele Syndrome 19
1024 c SYS048 Systemic Lupus Erythematosus 8 19
1025 c SYS045 Systemic Lupus Erythematosus 14 18
1026 CHR416 Chromosome 17q Deletion 18
1027 c SYS065 Systemic Lupus Erythematosus 11 18
1028 c ANT067 Anterior Segment Dysgenesis 8 18
1029 c SYS047 Systemic Lupus Erythematosus 7 17
1030 c SYS052 Systemic Lupus Erythematosus 13 16
1031 FRL002 Froelich Syndrome 15
1032 c OTP002 Otopalatodigital Spectrum Disorders 14
1033 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1034 c ACD010 Acd-Related Dyskeratosis Congenita 10
1035 c PRN059 Parn-Related Dyskeratosis Congenita 9
1036 c RTL001 Rtel1-Related Dyskeratosis Congenita 9
1037 c ITG003 Itgam-Related Susceptibility to Systemic Lupus Erythematosus 8
1038 c ABC012 Abcc8-Related Transient Neonatal Diabetes Mellitus 2 8
1039 c CR2002 Cr2-Related Susceptibility to Systemic Lupus Erythematosus 7
1040 c DKC001 Dkc1-Related Dyskeratosis Congenita 6
1041 c NHP001 Nhp2-Related Dyskeratosis Congenita 6
1042 c NP1001 Nop10-Related Dyskeratosis Congenita 6
1043 c TRC065 Terc-Related Dyskeratosis Congenita 6
1044 c TRT008 Tert-Related Dyskeratosis Congenita 6
1045 c TNF003 Tinf2-Related Dyskeratosis Congenita 6
1046 c WRP001 Wrap53-Related Dyskeratosis Congenita 6
1047 c TPM003 Tpm2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2b 6
1048 c DNS006 Dnase1-Related Susceptibility to Systemic Lupus Erythematosus 6
1049 c DBT021 Diabetes Mellitus, Kcnj11-Related Transient Neonatal 5
1050 c MYH006 Myh3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2b 5
1051 c TNN005 Tnni2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2b 5
1052 c TNN013 Tnnt3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2b 5
1053 P ATX030 Ataxia-Telangiectasia 78
1054 P CLC005 Celiac Disease 69
1055 P MCL013 Mucolipidosis Iv 64
1056 c MCP003 Mucopolysaccharidosis Vii 63
1057 CNR002 Cone-Rod Dystrophy 63
1058 FBR011 Fibrodysplasia Ossificans Progressiva 63
1059 P LBR001 Leber Congenital Amaurosis 62
1060 c MYT021 Myotonic Dystrophy 1 61
1061 TKY002 Takayasu Arteritis 60
1062 P CTR001 Citrullinemia 60
1063 WST001 West Syndrome 58
1064 c NMN013 Niemann-Pick Disease, Type a 58
1065 MLG056 Malignant Hyperthermia 57
1066 c HRD002 Hereditary Angioedema 56
1067 MCR264 Mcardle Disease 55
1068 NLP001 Nail-Patella Syndrome 55
1069 P CRP007 Carpenter Syndrome 55
1070 P PRG013 Paraganglioma 54
1071 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1072 ERY003 Erythema Multiforme 53
1073 c USH006 Usher Syndrome, Type 1b 53
1074 P SMP003 Simpson-Golabi-Behmel Syndrome 53
1075 P FTL009 Fetal Akinesia Deformation Sequence 53
1076 PTT048 Pituitary Adenoma, Prolactin-Secreting 52
1077 P ANG015 Angioedema 52
1078 c NMN015 Niemann-Pick Disease, Type C1 51
1079 c ALZ036 Alzheimer Disease, Type 3 51
1080 BRT002 Birt-Hogg-Dube Syndrome 50
1081 c MCL062 Mucolipidosis Ii Alpha/beta 50
1082 CRN239 Carnitine Deficiency, Systemic Primary 49
1083 c ALB021 Albinism, Oculocutaneous, Type Ii 49
1084 c LBR012 Leber Congenital Amaurosis 2 48
1085 ECT078 Ectodermal Dysplasia 2, Clouston Type 47
1086 c LBR004 Leber Congenital Amaurosis 1 46
1087 c USH035 Usher Syndrome Type 2 45
1088 HTR003 Heterotaxy 44
1089 P MTH007 Methemoglobinemia 44
1090 c LBR014 Leber Congenital Amaurosis 4 44
1091 TRP009 Triple X Syndrome 44
1092 c WRD020 Waardenburg Syndrome, Type 4a 43
1093 c CHR037 Chronic Eosinophilic Pneumonia 43
1094 PRN011 Pernicious Anemia 43
1095 c NMN016 Niemann-Pick Disease, Type B 43
1096 c CNG012 Congenital Generalized Lipodystrophy 43
1097 c ANG041 Angioedema, Hereditary, Types I and Ii 43
1098 c USH008 Usher Syndrome, Type 1d 42
1099 BLN001 Blount's Disease 42
1100 P ACQ022 Acquired Generalized Lipodystrophy 42
1101 c USH034 Usher Syndrome, Type 2d 41
1102 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 41
1103 c USH007 Usher Syndrome, Type 1c 41
1104 BLS007 Blastic Plasmacytoid Dendritic Cell 41
1105 c LBR019 Leber Congenital Amaurosis 9 40
1106 P ANT073 Anterior Segment Dysgenesis 1, Multiple Subtypes 40
1107 c MCL060 Macular Dystrophy, Vitelliform, 3 40
1108 c USH012 Usher Syndrome, Type 2c 40
1109 c MCL016 Mucolipidosis Iii Gamma 40
1110 c ERL006 Early-Onset Familial Alzheimer Disease 39
1111 P KLN006 Koolen-De Vries Syndrome 39
1112 c ALZ035 Alzheimer Disease-4 39
1113 c MCL066 Macular Dystrophy, Vitelliform, 2 38
1114 c USH022 Usher Syndrome, Type 1g 38
1115 PSD029 Pseudocholinesterase Deficiency 38
1116 c LBR007 Leber Congenital Amaurosis 12 38
1117 P VTL001 Vitelliform Macular Dystrophy 38
1118 c ALB009 Albinism, Oculocutaneous, Type Ia 37
1119 c USH010 Usher Syndrome, Type 1f 37
1120 DFF021 Diffuse Mesangial Sclerosis 37
1121 P WGN003 Wagner Syndrome 37
1122 c LBR013 Leber Congenital Amaurosis 3 36
1123 c MTH037 Methemoglobinemia, Type I 36
1124 c LBR011 Leber Congenital Amaurosis 16 36
1125 c LBR009 Leber Congenital Amaurosis 14 36
1126 c LBR005 Leber Congenital Amaurosis 10 36
1127 c CRP022 Carpenter Syndrome 2 35
1128 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35
1129 DNS007 Dense Deposit Disease 35
1130 c CNG216 Congenital Hydrocephalus 35
1131 c LBR016 Leber Congenital Amaurosis 6 35
1132 c PRG021 Paragangliomas 4 35
1133 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 35
1134 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 34
1135 c LBR018 Leber Congenital Amaurosis 8 33
1136 PHC004 Phace Syndrome 33
1137 c ALZ032 Alzheimer Disease 18 33
1138 LYS021 Loeys-Dietz Syndrome 3 33
1139 c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33
1140 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33
1141 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 33
1142 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32
1143 CRN237 Corneal Dystrophy, Avellino Type 32
1144 c ALZ046 Alzheimer's Disease 5 31
1145 c MCR251 Microphthalmia, Syndromic 6 31
1146 c ANT068 Anterior Segment Dysgenesis 2, Multiple Subtypes 31
1147 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
1148 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1149 c LBR015 Leber Congenital Amaurosis 5 30
1150 c WGN005 Wagner Syndrome 1 30
1151 c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30
1152 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30
1153 c WRD024 Waardenburg Syndrome, Type 4c 29
1154 SPS016 Spasmodic Dysphonia 29
1155 GNC003 Geniculate Herpes Zoster 29
1156 c PRG094 Paragangliomas 5 29
1157 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 28
1158 c WRD019 Waardenburg Syndrome, Type 4b 28
1159 c WRD010 Waardenburg Syndrome Type 4 28
1160 c ALZ047 Alzheimer's Disease 10 28
1161 c ALZ015 Alzheimer Disease 6 28
1162 c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27
1163 c ANG045 Angioedema, Hereditary, Type Iii 27
1164 c USH030 Usher Syndrome, Type Ik 27
1165 c USH031 Usher Syndrome, Type Ij 27
1166 c CNG223 Congenital Methemoglobinemia 26
1167 c LBR010 Leber Congenital Amaurosis 15 26
1168 c LBR017 Leber Congenital Amaurosis 7 26
1169 c USH026 Usher Syndrome Type 3b 26
1170 c ALZ045 Alzheimer Disease 9 26
1171 c ALZ016 Alzheimer Disease 8 25
1172 WYB001 Wyburn Mason's Syndrome 25
1173 c SPS092 Spastic Paraplegia 11 25
1174 RSP007 Respiratory Distress Syndrome, Infant 25
1175 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
1176 c LBR029 Leber Congenital Amaurosis 17 24
1177 HYP180 Hypertrichosis Lanuginosa Congenita 24
1178 c LBR008 Leber Congenital Amaurosis 13 24
1179 c CLC048 Celiac Disease 3 24
1180 CHR209 Chromosome 17p Duplication 24
1181 c ALZ012 Alzheimer Disease 12 24
1182 c ALZ048 Alzheimer's Disease 19 24
1183 c ALZ002 Alzheimer Disease Type 1 24
1184 c LBR006 Leber Congenital Amaurosis 11 24
1185 c ALZ014 Alzheimer Disease 16 23
1186 c ACQ047 Acquired Methemoglobinemia 23
1187 c WRD022 Waardenburg Syndrome, Type 2d 23
1188 c MCL061 Macular Dystrophy, Vitelliform, 4 22
1189 c ALZ031 Alzheimer Disease 17 22
1190 c MTH036 Methemoglobinemia, Type Iv 22
1191 c ANT074 Anterior Segment Dysgenesis 5, Multiple Subtypes 22
1192 c MCL056 Macular Dystrophy, Vitelliform, 5 22
1193 c CLC037 Celiac Disease 4 21
1194 c ANT072 Anterior Segment Dysgenesis 3, Multiple Subtypes 21
1195 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1196 c RP6001 Rpe65-Related Leber Congenital Amaurosis 20
1197 c ALZ043 Alzheimer's Disease 15 20
1198 c ALZ041 Alzheimer's Disease 13 20
1199 XLN162 X-Linked Intellectual Disability, Najm Type 20
1200 c ALZ042 Alzheimer's Disease 14 20
1201 c ALZ039 Alzheimer's Disease 7 20
1202 c APL013 Aipl1-Related Leber Congenital Amaurosis 19
1203 c ALZ040 Alzheimer's Disease 11 19
1204 c CLC039 Celiac Disease 13 19
1205 DVL017 Developmental Prosopagnosia 19
1206 DSS025 Dissociative Seizures 19
1207 c ALZ008 Alzheimer Disease Risk Factor 19
1208 c CLC045 Celiac Disease 2 18
1209 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 18
1210 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 18
1211 c ANT070 Anterior Segment Dysgenesis 6, Multiple Subtypes 18
1212 c WRD026 Waardenburg Syndrome, Type 2c 18
1213 c CLC046 Celiac Disease 5 18
1214 c CLC038 Celiac Disease 10 18
1215 c CLC040 Celiac Disease 6 18
1216 c CLC044 Celiac Disease 12 18
1217 5Q1001 5q14.3 Microdeletion Syndrome 17
1218 c CLC047 Celiac Disease 8 17
1219 c CLC041 Celiac Disease 7 16
1220 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 16
1221 c HYD042 Hydrocephalus, Autosomal Dominant 16
1222 c CLC042 Celiac Disease 9 16
1223 c DK7002 Dok7-Related Fetal Akinesia Deformation Sequence 16
1224 c RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 16
1225 c CLC043 Celiac Disease 11 16
1226 CMP017 Camptocormism 15
1227 c KCN007 Kcnj13-Related Leber Congenital Amaurosis 14
1228 c ACQ036 Acquired Angioedema Type 2 14
1229 c USH016 Usher Syndrome Type 1h 13
1230 c ICH014 Ichthyosis Lamellar 1 13
1231 c NNS018 Nonsyndromic Paraganglioma 12
1232 OMP007 Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex 12
1233 c ACQ035 Acquired Angioedema Type 1 11
1234 17Q011 17q12 Duplication 10
1235 c NNS028 Nonsyndromic Hydrocephalus, Ccdc88c-Related 10
1236 c NMN007 Nmnat1-Related Leber Congenital Amaurosis 10
1237 c NNS036 Nonsyndromic Hydrocephalus, Mpdz-Related 9
1238 SCN063 Scn2a Related Disorders 9
1239 c GCY001 Gucy2d-Related Leber Congenital Amaurosis 9
1240 c IQC001 Iqcb1-Related Leber Congenital Amaurosis 9
1241 c ADL083 Adult-Onset Citrullinemia Type I 8
1242 c USH011 Usher Syndrome, Type 2b 8
1243 NFK002 Nf-Kappa B Essential Modulator Deficiency 8
1244 PGM026 Pgm3-Cdg 7
1245 c CP2003 Cep290-Related Leber Congenital Amaurosis 7
1246 c CRB082 Crb1-Related Leber Congenital Amaurosis 7
1247 c CRX001 Crx-Related Leber Congenital Amaurosis 7
1248 c IMP009 Impdh1-Related Leber Congenital Amaurosis 7
1249 c LC5001 Lca5-Related Leber Congenital Amaurosis 7
1250 c LRT001 Lrat-Related Leber Congenital Amaurosis 7
1251 c RD3001 Rd3-Related Leber Congenital Amaurosis 7
1252 c RDH001 Rdh12-Related Leber Congenital Amaurosis 7
1253 c RPG003 Rpgrip1-Related Leber Congenital Amaurosis 7
1254 c SPT008 Spata7-Related Leber Congenital Amaurosis 7
1255 c TLP003 Tulp1-Related Leber Congenital Amaurosis 7
1256 c GPC001 Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 6
1257 c GPC002 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1 6
1258 c PRP044 Prph2-Related Adult-Onset Vitelliform Macular Dystrophy 6
1259 c OFD003 Ofd1-Related Simpson-Golabi-Behmel Syndrome Type 2 6
1260 c PGR001 Piga-Related Simpson-Golabi-Behmel Syndrome Type 2 6
1261 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 5
1262 P NMN002 Niemann-Pick Disease 66
1263 LWS003 Lowe Syndrome 59
1264 CNT097 Central Hypoventilation Syndrome, Congenital 57
1265 P OCL013 Oculodentodigital Dysplasia 57
1266 P ACH003 Achromatopsia 55
1267 MCK005 Mckusick-Kaufman Syndrome 55
1268 DNY001 Denys-Drash Syndrome 54
1269 BRT005 Barth Syndrome 53
1270 P GNG025 Gingival Fibromatosis 51
1271 c GLY019 Glycogen Storage Disease Iiia 50
1272 NDL013 Nodular Regenerative Hyperplasia 47
1273 c ACH020 Achromatopsia 2 44
1274 c LKD010 Leukodystrophy, Hypomyelinating, 2 41
1275 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41
1276 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1277 c CHR576 Chronic Beryllium Disease 39
1278 P BRY005 Beryllium Disease 38
1279 c LKD019 Leukodystrophy, Hypomyelinating, 6 38
1280 c MCR263 Microphthalmia, Syndromic 1 37
1281 P MRN003 Marinesco-Sjogren Syndrome 37
1282 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1283 INT088 Intrinsic Factor Deficiency 36
1284 c ACH023 Achromatopsia 4 33
1285 LRN006 Laurin-Sandrow Syndrome 33
1286 LPM010 Lipomatosis, Multiple Symmetric 31
1287 SHP003 Shapiro Syndrome 30
1288 P HYP700 Hypomyelinating Leukodystrophy 29
1289 GMZ002 Gomez-Lopez-Hernandez Syndrome 27
1290 MSM016 Mesomelic Dysplasia, Kantaputra Type 26
1291 c FBR084 Fibromatosis, Gingival, 1 25
1292 PRF003 Piriformis Syndrome 25
1293 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1294 LRY026 Laryngeal Cleft 24
1295 SCL022 Scleredema 24
1296 BLN004 Balantidiasis 22
1297 c LKD022 Leukodystrophy, Hypomyelinating, 13 21
1298 c LKD016 Leukodystrophy, Hypomyelinating, 9 21
1299 c ACH038 Achromatopsia 7 21
1300 c LKD021 Leukodystrophy, Hypomyelinating, 11 21
1301 c LKD020 Leukodystrophy, Hypomyelinating, 10 20
1302 c LKD023 Leukodystrophy, Hypomyelinating, 12 20
1303 c FBR092 Fibromatosis, Gingival, 5 10
1304 c ACH024 Achromatopsia 5 8
1305 P WSK001 Wiskott-Aldrich Syndrome 74
1306 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1307 MNK001 Menkes Disease 63
1308 P NRC002 Narcolepsy 62
1309 P CCK001 Cockayne Syndrome 62
1310 P FRD001 Friedreich Ataxia 62
1311 WLL001 Williams-Beuren Syndrome 62
1312 BRC012 Brucellosis 61
1313 NRL005 Neurilemmoma 61
1314 SHW002 Shwachman-Diamond Syndrome 61
1315 P HML002 Hemolytic Anemia 61
1316 c ATM010 Autoimmune Hemolytic Anemia 60
1317 VLC002 Vlcad Deficiency 59
1318 P AND016 Andersen Syndrome 59
1319 BLL006 Bullous Pemphigoid 59
1320 c MCP001 Mucopolysaccharidosis Iii 58
1321 ZLL001 Zellweger Syndrome 58
1322 P RTN025 Retinoschisis 57
1323 ASP002 Aspartylglucosaminuria 56
1324 P ANT006 Antiphospholipid Syndrome 54
1325 PLN006 Poland Syndrome 54
1326 P USH001 Usher Syndrome 54
1327 P LPD010 Lipodystrophy 53
1328 c PSD095 Pseudohypoaldosteronism, Type I 53
1329 MTC097 Mitochondrial Complex Iv Deficiency 51
1330 ETH011 Ethylmalonic Encephalopathy 51
1331 KMR001 Kimura Disease 50
1332 DNR002 Duane-Radial Ray Syndrome 49
1333 ACR013 Acrodysostosis 49
1334 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
1335 LMB002 Lambert-Eaton Myasthenic Syndrome 48
1336 c EPL100 Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 47
1337 CRB151 Cerebral Creatine Deficiency Syndrome 1 46
1338 PRX015 Paroxysmal Extreme Pain Disorder 45
1339 MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44
1340 SHH001 Sheehan Syndrome 44
1341 c CCK005 Cockayne Syndrome, Type a 42
1342 MDL009 Medullary Sponge Kidney 42
1343 P TRM004 Trimethylaminuria 41
1344 SMD002 Smed Strudwick Type 41
1345 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 41
1346 c LSS005 Lissencephaly 1 40
1347 c CCK006 Cockayne Syndrome, Type B 40
1348 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 40
1349 HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 40
1350 HMC006 Homocystinuria Due to Mthfr Deficiency 40
1351 ACT055 Actinomycosis 39
1352 GLC022 Glucose/galactose Malabsorption 39
1353 c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 39
1354 ALV006 Alveolar Capillary Dysplasia 38
1355 c HMC035 Hemochromatosis, Type 4 38
1356 TTR016 Tetra-Amelia Syndrome 38
1357 c OTP006 Otopalatodigital Syndrome, Type I 38
1358 FRY006 Fryns Microphthalmia Syndrome 38
1359 c MCR261 Microphthalmia, Syndromic 2 38
1360 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 38
1361 GRN022 Granulosa Cell Tumor of the Ovary 37
1362 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 35
1363 c LCL022 Localized Lipodystrophy 35
1364 c EPL120 Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 35
1365 SCH072 Scheuermann Disease 35
1366 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 34
1367 HTR014 Heterotaxy, Visceral, 1, X-Linked 34
1368 HMG006 Hmg-Coa Lyase Deficiency 34
1369 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
1370 c HYP602 Hyperoxaluria, Primary, Type Ii 34
1371 DNC004 Diencephalic Syndrome 34
1372 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 33
1373 SRN002 Sirenomelia 33
1374 BJR001 Bjornstad Syndrome 32
1375 c HMC021 Hemochromatosis, Type 2a 31
1376 c NRC009 Narcolepsy 1 31
1377 PNT005 Pentalogy of Cantrell 30
1378 c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 30
1379 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 30
1380 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 29
1381 c HMC034 Hemochromatosis, Type 5 29
1382 c LSS010 Lissencephaly 4 29
1383 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1384 c CHR605 Charcot-Marie-Tooth Disease, Axonal, Type 2a2a 29
1385 MTH064 Methemoglobinemia, Beta-Globin Type 29
1386 DNT041 Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth 28
1387 MLG141 Malignant Atrophic Papulosis 28
1388 PPC001 Pepck 1 Deficiency 28
1389 c WSK002 Wiskott-Aldrich Syndrome 2 28
1390 ISC016 Ischiocoxopodopatellar Syndrome 28
1391 SHR098 Short-Rib Thoracic Dysplasia 12 27
1392 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 27
1393 c SPS031 Spastic Paraplegia 23 27
1394 PLM049 Plummer Vinson Syndrome 27
1395 SDM002 Sed, Maroteaux Type 27
1396 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1397 c FRD006 Friedreich Ataxia 2 27
1398 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 27
1399 MBD001 Mbd5 Haploinsufficiency 26
1400 c LSS009 Lissencephaly 3 25
1401 c JVN019 Juvenile Temporal Arteritis 25
1402 c NRC017 Narcolepsy 7 25
1403 c EPL041 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 25
1404 c NRC011 Narcolepsy 3 25
1405 c PLY121 Polydactyly, Preaxial, Type Iv 24
1406 c PRK071 Parkinson Disease 14, Autosomal Recessive 24
1407 VNF001 Vein of Galen Aneurysm 24
1408 c HMC019 Hemochromatosis, Type 2b 24
1409 c LSS025 Lissencephaly 5 24
1410 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 23
1411 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 23
1412 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 23
1413 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
1414 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 22
1415 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 22
1416 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 22
1417 SRP002 Serpiginous Choroiditis 22
1418 HMF010 Hemifacial Microsomia with Radial Defects 22
1419 ARS002 Arsacs 21
1420 MCR067 Microcoria, Congenital 21
1421 OCL016 Ocular Albinism, X-Linked 21
1422 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 21
1423 PRT110 Prieto Syndrome 21
1424 MTP004 Metaphyseal Acroscyphodysplasia 21
1425 c NRC010 Narcolepsy 2 21
1426 c JVN024 Juvenile Hereditary Hemochromatosis 21
1427 CHR212 Chromosome 18p Duplication 20
1428 c CHR493 Charcot-Marie-Tooth Disease, Axonal, Type 20 20
1429 PRX086 Paroxysmal Exertion-Induced Dyskinesia 20
1430 FRB005 Freiberg's Disease 20
1431 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 20
1432 INT277 Intellectual Disability-Developmental Delay-Contractures Syndrome 20
1433 BLP041 Blepharochalasis and Double Lip 20
1434 c CHR606 Charcot-Marie-Tooth Disease, Axonal, Type 2a2b 19
1435 c NRC012 Narcolepsy 4 19
1436 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 18
1437 c NRC013 Narcolepsy 5 18
1438 c NRC018 Narcolepsy 6 17
1439 c LSS035 Lissencephaly 8 17
1440 c ANT041 Antiphospholipid Syndrome, Familial 17
1441 c PLY136 Polydactyly, Preaxial I 17
1442 GLT008 Glutathioninuria 16
1443 GBM001 Gaba Aminotransferase Deficiency 16
1444 c APR009 Aprosencephaly Syndrome 16
1445 TRS010 Trisomy 17 Mosaicism 15
1446 c ENG003 Eng-Related Hereditary Hemorrhagic Telangiectasia 14
1447 P PRX038 Preaxial Polydactyly of Toes 14
1448 c ACV002 Acvrl1-Related Hereditary Hemorrhagic Telangiectasia 13
1449 c AND007 Andersen Syndrome Type 1 12
1450 c TFR001 Tfr2-Related Hereditary Hemochromatosis 12
1451 P XKP001 Xk Aprosencephaly 11
1452 c ERC007 Ercc8-Related Cockayne Syndrome 11
1453 c ERC006 Ercc6-Related Cockayne Syndrome 11
1454 CHR181 Chromosome 10p Deletion 10
1455 c GLT029 Glutaric Acidemia Type Iii 10
1456 WLF008 Wolffian Tumor 10
1457 P 17Q010 17q12 Deletion Syndrome 10
1458 CHR182 Chromosome 10p Duplication 10
1459 c SLC015 Slc40a1-Related Hereditary Hemochromatosis 9
1460 c HMP019 Hamp-Related Juvenile Hemochromatosis 9
1461 c SCN026 Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus 9
1462 c NRC008 Narcolepsy Risk Factor 9
1463 c GDF001 Gdf2-Related Hereditary Hemorrhagic Telangiectasia 8
1464 c GBR002 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus 7
1465 c GBR005 Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus 7
1466 c SCN018 Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus 7
1467 c STX002 Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus 7
1468 TRN026 Tranebjaerg Svejgaard Syndrome 7
1469 CHR258 Chromosome 6q Duplication 7
1470 AQG003 Aquagenic Syringeal Acrokeratoderm 7
1471 c SMD005 Smad4-Related Hereditary Hemorrhagic Telangiectasia 7
1472 c PRM209 Primary Trimethylaminuria 6
1473 c HML019 Hemolytic Anemia Due to Band 3 Montefiore 6
1474 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
1475 c DCX002 Dcx-Related Lissencephaly 6
1476 c AND008 Andersen Syndrome Type 2 4
1477 c 17Q009 17q12 Recurrent Deletion Syndrome 3
1478 P RTT002 Rett Syndrome 82
1479 P MLT019 Multiple Myeloma 82
1480 P DBT085 Diabetes Mellitus, Insulin-Dependent 79
1481 P RTN024 Retinoblastoma 75
1482 P CRB042 Cerebellar Ataxia 69
1483 P NNN008 Noonan Syndrome 1 68
1484 P THN009 Thanatophoric Dysplasia, Type I 64
1485 RCT015 Reactive Arthritis 63
1486 HSH003 Hashimoto Thyroiditis 62
1487 P CRB171 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 61
1488 FCT003 Factor X Deficiency 59
1489 DBF001 D-Bifunctional Protein Deficiency 57
1490 ALS001 Alstrom Syndrome 55
1491 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 55
1492 DBN001 Dubin-Johnson Syndrome 54
1493 c GCH015 Gaucher Disease, Type I 54
1494 MLT135 Multiple Sulfatase Deficiency 54
1495 P OVR049 Ovarian Disease 54
1496 BRG013 Buerger Disease 54
1497 P PLY006 Polydactyly 54
1498 P TRC072 Treacher Collins Syndrome 1 54
1499 P JRV003 Jervell and Lange-Nielsen Syndrome 54
1500 P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 53
1501 HYP730 Hypogonadotropic Hypogonadism 52
1502 EXT034 Extrinsic Allergic Alveolitis 52
1503 PRC002 Paracoccidioidomycosis 52
1504 PSD012 Pseudoachondroplasia 52
1505 PRP032 Porphyria Variegata 51
1506 P ACT105 Acute Mountain Sickness 51
1507 FCT004 Factor Xii Deficiency 50
1508 VND002 Van Der Woude Syndrome 50
1509 P PRS049 Persistent Mullerian Duct Syndrome 50
1510 c EPL070 Epilepsy, Progressive Myoclonic 2b 48
1511 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 48
1512 SMT003 Somatostatinoma 48
1513 P HYP366 Hyperkalemic Periodic Paralysis, Type 2 47
1514 HNT002 Hantavirus Pulmonary Syndrome 47
1515 P RBN002 Robinow Syndrome 47
1516 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47
1517 c FRC011 Fructose Intolerance, Hereditary 46
1518 P GRN010 Granular Cell Tumor 46
1519 PRT103 Protoporphyria, Erythropoietic, Autosomal Recessive 46
1520 P CRB019 Cerebral Amyloid Angiopathy 46
1521 MLT145 Multiple Enchondromatosis, Maffucci Type 46
1522 P CRN012 Craniometaphyseal Dysplasia 46
1523 IDP024 Idiopathic Inflammatory Myopathy 45
1524 FCL072 Focal Cortical Dysplasia, Type Ii, Somatic 44
1525 AND010 Androgen Insensitivity, Partial, with or Without Breast Cancer 43
1526 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 42
1527 P LSS027 Lissencephaly, X-Linked 42
1528 SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 42
1529 c PSD096 Pseudohypoaldosteronism Type I, Autosomal Dominant 42
1530 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42
1531 NM001 Noma 42
1532 IDP035 Idiopathic Achalasia 42
1533 c MCP026 Mucopolysaccharidosis Type Iiib 41
1534 P CPL003 Capillary Leak Syndrome 41
1535 c SPL034 Split-Hand/foot Malformation 4 41
1536 c RBN009 Robinow Syndrome, Autosomal Recessive 41
1537 EPD015 Epidemic Typhus 40
1538 SPN060 Spondylocarpotarsal Synostosis Syndrome 40
1539 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 40
1540 c GM1004 Gm1-Gangliosidosis, Type I 40
1541 MYH012 Myhre Syndrome 39
1542 c CHR546 Chronic Mountain Sickness 39
1543 IRN004 Iron-Refractory Iron Deficiency Anemia 39
1544 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 39
1545 GLT021 Glutaricaciduria, Type I 39
1546 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 39
1547 c NNN010 Noonan Syndrome 3 38
1548 MLK003 Melkersson-Rosenthal Syndrome 38
1549 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 38
1550 c STC015 Stickler Syndrome, Type I 38
1551 P MYC068 Myoclonic Epilepsy of Infancy 38
1552 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 37
1553 c NNN012 Noonan Syndrome 5 37
1554 ANR018 Anorchia 37
1555 LTR003 Lateral Medullary Syndrome 37
1556 P JVN008 Juvenile Glaucoma 37
1557 TNG001 Tungiasis 37
1558 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
1559 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 36
1560 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 36
1561 c RBN018 Robinow Syndrome, Autosomal Dominant 1 36
1562 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 35
1563 P ATL001 Atelosteogenesis 35
1564 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
1565 c RBN017 Robinow Syndrome, Autosomal Dominant 2 35
1566 NNT024 Neonatal Stroke 35
1567 P NNT042 Neonatal Lupus Erythematosus 34
1568 LND001 Landau-Kleffner Syndrome 34
1569 ALP077 Alpha-Methylacetoacetic Aciduria 34
1570 c EPL121 Epilepsy, Progressive Myoclonic 1a 34
1571 c MNT149 Mental Retardation, X-Linked 3 33
1572 c ATS076 Autosomal Recessive Stickler Syndrome 33
1573 c NNN011 Noonan Syndrome 4 33
1574 P SPS008 Spastic Ataxia 33
1575 GRC001 Gracile Syndrome 32
1576 FLT009 Folate Malabsorption, Hereditary 32
1577 c PRM032 Primary Congenital Glaucoma 32
1578 CHR518 Chromosome 9p Deletion Syndrome 32
1579 c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 32
1580 DQR001 De Quervain Disease 32
1581 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 32
1582 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
1583 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 31
1584 TRL002 Tarlov Cysts 31
1585 c SPL033 Split-Hand/foot Malformation 6 31
1586 c SPL062 Split Hand-Foot Malformation 1 31
1587 c FML008 Familial Retinoblastoma 31
1588 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 31
1589 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1590 c EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 31
1591 P PRX010 Paroxysmal Ventricular Fibrillation 31
1592 PSD097 Pseudohermaphroditism, Male, with Gynecomastia 31
1593 c NNN013 Noonan Syndrome 6 31
1594 c NNN025 Noonan Syndrome 10 31
1595 c SPL063 Split Hand-Foot Malformation 2 30
1596 c WRD031 Waardenburg Syndrome, Type 3 30
1597 c CTR142 Citrullinemia, Adult-Onset Type Ii 30
1598 P GNG010 Gangliosidosis Gm2 30
1599 c SPL025 Split-Hand/foot Malformation 5 30
1600 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 30
1601 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 30
1602 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 30
1603 CHL073 Cholestasis-Lymphedema Syndrome 29
1604 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
1605 c SYS007 Systemic Capillary Leak Syndrome 29
1606 c ATS307 Autosomal Recessive Cerebellar Ataxia 29
1607 c ATS082 Autosomal Dominant Robinow Syndrome 29
1608 c NNN021 Noonan Syndrome 8 29
1609 c MNT198 Mental Retardation, X-Linked 98 29
1610 LGH016 Leigh Syndrome, French-Canadian Type 29
1611 c SPS072 Spastic Ataxia 1, Autosomal Dominant 28
1612 c RTT008 Rett Syndrome, Congenital Variant 28
1613 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 28
1614 c NNN020 Noonan Syndrome 7 28
1615 c EPL145 Epilepsy, Progressive Myoclonic 6 28
1616 ADN077 Adenosine Deaminase 2 Deficiency 28
1617 c BNG079 Benign Adult Familial Myoclonic Epilepsy 28
1618 PSD088 Pseudobulbar Affect 28
1619 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
1620 c ATL002 Atelosteogenesis Ii 27
1621 c MYC048 Myoclonic Epilepsy, Infantile, Familial 27
1622 PPL051 Popliteal Pterygium Syndrome, Bartsocas-Papas Type 27
1623 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 27
1624 c LSS012 Lissencephaly, X-Linked 2 27
1625 c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27
1626 c NNN024 Noonan Syndrome 9 27
1627 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 26
1628 MYL048 Myelodysplasia and Leukemia Syndrome with Monosomy 7 26
1629 c STC012 Stickler Syndrome, Type Iv 26
1630 c ACQ027 Acquired Cutis Laxa 26
1631 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
1632 c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 26
1633 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
1634 NML020 Nemaline Myopathy 5, Amish Type 26
1635 c MNT248 Mental Retardation, X-Linked 102 25
1636 HYP322 Hypoaldosteronism, Congenital, Due to Cmo I Deficiency 25
1637 ATS270 Autosomal Dominant Café Au Lait Spots 25
1638 c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25
1639 LKN007 Leukonychia Totalis 25
1640 SPR031 Sprengel Deformity 25
1641 CHR523 Chromosome 15q11.2 Deletion Syndrome 25
1642 c MYC070 Myoclonic Epilepsy, Juvenile 1 25
1643 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 25
1644 c SPS208 Spastic Ataxia 4, Autosomal Recessive 25
1645 c ERL012 Early-Onset Glaucoma 24
1646 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
1647 EMB015 Embryonal Tumor with Multilayered Rosettes 24
1648 c EPL134 Epilepsy, Progressive Myoclonic 7 24
1649 c STC011 Stickler Syndrome, Type V 24
1650 c RBN020 Robinow Syndrome, Autosomal Dominant 3 24
1651 ESN016 Eosinophilic Pustular Folliculitis 24
1652 c CNG022 Congenital Granular Cell Tumor 24
1653 c TRC073 Treacher Collins Syndrome 2 24
1654 c PTP002 Ptpn11-Related Noonan Syndrome 24
1655 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
1656 BCK005 Becker Nevus Syndrome 24
1657 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
1658 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
1659 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 23
1660 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
1661 KRN007 Kerion Celsi 23
1662 c EPL155 Epilepsy, Progressive Myoclonic, 8 23
1663 c CHR142 Charcot-Marie-Tooth Disease Type 2f 22
1664 c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 22
1665 c MNT249 Mental Retardation, X-Linked 12/35 22
1666 BJL001 Bejel 22
1667 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 22
1668 c SPS027 Spastic Paraplegia 17 22
1669 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
1670 DBT018 Diabetic Mastopathy 22
1671 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 22
1672 STT009 Sutton Disease 2 21
1673 RBF003 Riboflavin Transporter Deficiency 21
1674 ACR034 Acrogeria, Gottron Type 21
1675 c MNT223 Mental Retardation, X-Linked 100 21
1676 c EPL094 Epilepsy, Juvenile Myoclonic 5 21
1677 c MNT224 Mental Retardation, X-Linked 101 21
1678 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 21
1679 ACR044 Acroosteolysis Dominant Type 21
1680 CHR270 Chromosome 9p Duplication 21
1681 c EPL144 Epilepsy, Progressive Myoclonic 1b 21
1682 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 21
1683 c XLN042 X-Linked Mental Retardation 21 21
1684 CHR189 Chromosome 12p Deletion 21
1685 c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 21
1686 c EPL154 Epilepsy, Progressive Myoclonic, 9 21
1687 c FBR079 Fibromatosis, Gingival, 2 21
1688 CHR229 Chromosome 20p Duplication 20
1689 c NNN009 Noonan Syndrome 2 20
1690 CHR268 Chromosome 8q Duplication 20
1691 c GLC054 Glaucoma 3, Primary Congenital, D 20
1692 c MNT203 Mental Retardation, X-Linked 30/47 20
1693 49X001 49, Xxxxx 20
1694 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
1695 CHR243 Chromosome 3p Deletion 20
1696 c PRK008 Parkinson Disease Type 9 20
1697 c MNT194 Mental Retardation, X-Linked 50 20
1698 c GLY006 Glycogen Storage Disease Viii 20
1699 c MNT196 Mental Retardation, X-Linked 92 20
1700 PRS053 Parsonage Turner Syndrome 20
1701 CHR190 Chromosome 12p Duplication 20
1702 c MNT292 Mental Retardation, X-Linked 1/78 19
1703 CHR208 Chromosome 17p Deletion 19
1704 c MNT195 Mental Retardation, X-Linked 96 19
1705 c MNT218 Mental Retardation, X-Linked 99 19
1706 c ATP003 Atp6v0a2-Related Cutis Laxa 19
1707 c MNT288 Mental Retardation, X-Linked 49/15 19
1708 c MNT267 Mental Retardation, X-Linked 104 19
1709 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
1710 CHR248 Chromosome 4p Duplication 19
1711 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
1712 P MNT291 Mental Retardation, X-Linked 9/44 18
1713 CHR252 Chromosome 5p Duplication 18
1714 c GLC083 Glaucoma 3, Primary Infantile, B 18
1715 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 18
1716 c MNT204 Mental Retardation, X-Linked 23 18
1717 CHR247 Chromosome 4p Deletion 18
1718 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 18
1719 IQS001 Iqsec2 17
1720 c MNT271 Mental Retardation, X-Linked 61 17
1721 c MNT200 Mental Retardation, X-Linked 97 16
1722 c EFM001 Efemp2-Related Cutis Laxa 16
1723 IDP020 Idiopathic Juxtafoveal Retinal Telangiectasia 16
1724 CHR220 Chromosome 1p Deletion 16
1725 c SPS170 Spastic Ataxia 2 16
1726 c MNT205 Mental Retardation, X-Linked 42 15
1727 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 15
1728 c MNT289 Mental Retardation, X-Linked 103 15
1729 c ALD008 Aldh18a1-Related Cutis Laxa 15
1730 c HRD084 Hereditary Cerebral Amyloid Angiopathy 15
1731 c PRG073 Progressive Myoclonic Epilepsy 5 14
1732 HND013 Handl Syndrome 14
1733 c FBR077 Fibromatosis, Gingival, 3 14
1734 c HYP142 Hyperkalemic Periodic Paralysis Type 1 14
1735 CHR271 Chromosome 9q Deletion 14
1736 c GLC089 Glaucoma 3, Primary Congenital, E 14
1737 c SPS162 Spastic Ataxia 1 14
1738 c EPL186 Epilepsy, Juvenile Myoclonic 9 14
1739 CHR257 Chromosome 6q Deletion 13
1740 c SPS214 Spastic Ataxia 4 13
1741 c MNT202 Mental Retardation, X-Linked 53 13
1742 c RBN010 Robinow-Like Syndrome 13
1743 c SCN015 Scn1a-Related Severe Myoclonic Epilepsy in Infancy 13
1744 c NNT025 Neonatal Systemic Lupus Erythematosus 13
1745 c FBR080 Fibromatosis, Gingival, 4 13
1746 CHR223 Chromosome 1q Deletion 13
1747 CHR264 Chromosome 8p Deletion 13
1748 c MNT247 Mental Retardation, X-Linked 73 13
1749 c SPS171 Spastic Ataxia 5 13
1750 CHR235 Chromosome 22q Deletion 13
1751 c MNT294 Mental Retardation, X-Linked 106 13
1752 c LTB003 Ltbp4-Related Cutis Laxa 12
1753 c SPS163 Spastic Ataxia 3 12
1754 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 12
1755 c CNT079 Central Polydactyly of Toes 11
1756 TCH005 Tièche-Jadassohn Nevus 11
1757 CHR239 Chromosome 2q Deletion 11
1758 CHR198 Chromosome 15q Deletion 11
1759 CHR188 Chromosome 11q Duplication 11
1760 c CL1002 Col11a2-Related Stickler Syndrome 11
1761 GSR001 Gosr2-Related Progressive Myoclonus Ataxia 11
1762 CHR249 Chromosome 4q Deletion 11
1763 CHR265 Chromosome 8p Duplication 11
1764 c PYC002 Pycr1-Related Cutis Laxa 11
1765 CHR272 Chromosome 9q Duplication 10
1766 c CL1001 Col11a1-Related Stickler Syndrome 10
1767 CHR195 Chromosome 14q Deletion 10
1768 CHR217 Chromosome 19q Deletion 10
1769 CHR230 Chromosome 20q Deletion 10
1770 CHR183 Chromosome 10q Deletion 10
1771 c CL2002 Col2a1-Related Stickler Syndrome 10
1772 c CL9002 Col9a1-Related Stickler Syndrome 10
1773 c CL9004 Col9a2-Related Stickler Syndrome 10
1774 CHR199 Chromosome 15q Duplication 9
1775 CHR256 Chromosome 6p Duplication 9
1776 STT042 Stt3a-Cdg and Stt3b-Cdg 9
1777 c GLC052 Glaucoma 3, Primary Congenital, C 9
1778 c FBL003 Fbln5-Related Cutis Laxa 9
1779 CHR255 Chromosome 6p Deletion 9
1780 CHR194 Chromosome 13q Duplication 9
1781 CHR261 Chromosome 7p Duplication 9
1782 c SYN013 Syne1-Related Autosomal Recessive Cerebellar Ataxia 9
1783 PMP003 Pemphigus and Fogo Selvagem 9
1784 CHR244 Chromosome 3p Duplication 8
1785 c PLR010 Polr1c-Related Treacher Collins Syndrome 8
1786 SPL023 Split Hand/foot Malformation X-Linked 8
1787 1QD001 1q Duplications 8
1788 CHR206 Chromosome 16q Deletion 8
1789 CHR215 Chromosome 19p Deletion 8
1790 P CRD218 Cardiac-Valvular Ehlers-Danlos Syndrome 8
1791 c BRF003 Braf-Related Noonan Syndrome 8
1792 c KRS004 Kras-Related Noonan Syndrome 8
1793 c LZT002 Lztr1-Related Noonan Syndrome 8
1794 c NRS004 Nras-Related Noonan Syndrome 8
1795 c RF1002 Raf1-Related Noonan Syndrome 8
1796 c RT1001 Rit1-Related Noonan Syndrome 8
1797 c SS1001 Sos1-Related Noonan Syndrome 8
1798 c SS2001 Sos2-Related Noonan Syndrome 8
1799 AHM001 Ahumada Del Castillo Syndrome 8
1800 c PLR011 Polr1d-Related Treacher Collins Syndrome 8
1801 c TCF001 Tcof1-Related Treacher Collins Syndrome 8
1802 c SPS172 Spastic Ataxia 7 8
1803 CHR184 Chromosome 10q Duplication 8
1804 CHR203 Chromosome 16p Duplication 8
1805 CHR221 Chromosome 1p Duplication 8
1806 CHR260 Chromosome 7p Deletion 8
1807 CHR185 Chromosome 11p Deletion 8
1808 c RR2001 Ror2-Related Robinow Syndrome 8
1809 c CYP002 Cyp1b1-Related Primary Congenital Glaucoma 7
1810 c NLG002 Nlgn4x-Related X-Linked Mental Retardation 7
1811 c ELN002 Eln-Related Cutis Laxa 7
1812 CHR245 Chromosome 3q Deletion 7
1813 CHR238 Chromosome 2p Duplication 7
1814 CHR274 Chromosome Xq Duplication 7
1815 c CCN006 Cacnb4-Related Juvenile Myoclonic Epilepsy 7
1816 c CLC014 Clcn2-Related Juvenile Myoclonic Epilepsy 7
1817 c EFH001 Efhc1-Related Juvenile Myoclonic Epilepsy 7
1818 c GBR001 Gabra1-Related Juvenile Myoclonic Epilepsy 7
1819 c GBR003 Gabrd-Related Juvenile Myoclonic Epilepsy 7
1820 CHR214 Chromosome 18q Duplication 7
1821 CHR240 Chromosome 2q Duplication 7
1822 CHR263 Chromosome 7q Duplication 7
1823 c FGD001 Fgd1-Related X-Linked Mental Retardation 7
1824 c SYP006 Syp-Related X-Linked Mental Retardation 7
1825 c ZNF002 Znf674-Related X-Linked Mental Retardation 7
1826 CHR191 Chromosome 12q Deletion 7
1827 CHR196 Chromosome 14q Duplication 7
1828 CHR233 Chromosome 21q Deletion 7
1829 CHR237 Chromosome 2p Deletion 7
1830 c MP2002 Map2k1-Related Noonan Syndrome 6
1831 c EJM001 Ejm2-Related Juvenile Myoclonic Epilepsy 6
1832 c EJM002 Ejm3-Related Juvenile Myoclonic Epilepsy 6
1833 c EJM003 Ejm4-Related Juvenile Myoclonic Epilepsy 6
1834 CHR207 Chromosome 16q Duplication 6
1835 CHR210 Chromosome 17q Duplication 6
1836 CHR250 Chromosome 4q Duplication 6
1837 CHR267 Chromosome 8q Deletion 6
1838 c LTB001 Ltbp2-Related Primary Congenital Glaucoma 6
1839 CHR231 Chromosome 20q Duplication 6
1840 CHR234 Chromosome 21q Duplication 6
1841 c HPC001 Hepacam-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts 6
1842 c MLC001 Mlc1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts 6
1843 c IGH002 Igh-Related Multiple Myeloma 5
1844 CHR192 Chromosome 12q Duplication 5
1845 CHR218 Chromosome 19q Duplication 5
1846 CHR228 Chromosome 20p Deletion 5
1847 CHR216 Chromosome 19p Duplication 4
1848 P APL001 Aplastic Anemia 74
1849 P PFF001 Pfeiffer Syndrome 71
1850 P ALP004 Alport Syndrome 70
1851 P DYS154 Dystonia 61
1852 P SPR098 Supranuclear Palsy, Progressive 59
1853 PLY125 Polycythemia Vera, Somatic 59
1854 CMP005 Campomelic Dysplasia 58
1855 P KBK002 Kabuki Syndrome 1 54
1856 HLY001 Hailey-Hailey Disease 53
1857 ISV001 Isovaleric Acidemia 51
1858 MND007 Mandibuloacral Dysplasia 51
1859 RTC002 Reticular Dysgenesis 51
1860 P SCH070 Schwannomatosis 51
1861 P CNG046 Congenital Fiber-Type Disproportion 49
1862 P ENC008 Encephalocele 48
1863 GLY014 Glycerol Kinase Deficiency 47
1864 P KLF001 Kleefstra Syndrome 47
1865 MCL002 Macular Corneal Dystrophy 47
1866 CRN248 Craniofrontonasal Dysplasia 46
1867 c DYS146 Dystonia 24 46
1868 HND003 Hand-Foot-Uterus Syndrome 45
1869 BRN003 Branchiooculofacial Syndrome 45
1870 MSM001 Meesmann Corneal Dystrophy 45
1871 c DYS169 Dystonia-12 43
1872 KNZ001 Kanzaki Disease 41
1873 TTR005 Tetrahydrobiopterin Deficiency 41
1874 PRL019 Prolidase Deficiency 40
1875 ARM004 Aromatase Excess Syndrome 40
1876 HYP036 Hyperlysinemia 39
1877 BHR002 Bohring-Opitz Syndrome 39
1878 c PFF007 Pfeiffer Syndrome Type 1 38
1879 ACH001 Acheiropody 38
1880 PTC001 Potocki-Shaffer Syndrome 38
1881 c DYS156 Dyserythropoietic Anemia, Congenital, Type Ia 36
1882 c DYS119 Dystonia 9 35
1883 EPL131 Epilepsy, Pyridoxine-Dependent 34
1884 TLS001 Tolosa-Hunt Syndrome 32
1885 c ZMM002 Zimmermann-Laband Syndrome 1 32
1886 SCL025 Scleromyxedema 32
1887 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31
1888 SRC015 Sarcosinemia 31
1889 P UNC001 Uncombable Hair Syndrome 30
1890 c KBK003 Kabuki Syndrome 2 30
1891 FMR018 Femoral-Facial Syndrome 30
1892 c HRD198 Hereditary Dystonia 30
1893 P CRD017 Cardiac Valvular Dysplasia, X-Linked 29
1894 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 28
1895 P ACR093 Acrofrontofacionasal Dysostosis 28
1896 P STR001 Striatonigral Degeneration 28
1897 OCL033 Oculocerebral Syndrome with Hypopigmentation 27
1898 c DYS151 Dystonia 25 27
1899 c PFF011 Pfeiffer Syndrome Type 2 27
1900 P OMD003 Omodysplasia 26
1901 c OMD001 Omodysplasia 1 26
1902 P ZMM001 Zimmermann-Laband Syndrome 26
1903 c DYS145 Dystonia 23 26
1904 c DYS072 Dystonia 7 26
1905 c PFF009 Pfeiffer Syndrome Type 3 26
1906 ESN009 Eosinophil Peroxidase Deficiency 25
1907 c STR085 Striatonigral Degeneration, Infantile 24
1908 c DYS186 Dystonia 2 24
1909 c SPR049 Supranuclear Palsy, Progressive, 2 24
1910 c BSL030 Basal Encephalocele 23
1911 c FRN037 Frontal Encephalocele 21
1912 c ACR103 Acrofrontofacionasal Dysostosis 1 21
1913 c DYS138 Dystonia 21 21
1914 RNL039 Renal Dysplasia-Limb Defects Syndrome 21
1915 c DYS137 Dystonia 4 20
1916 c DYS172 Dystonia 27 20
1917 C8D003 C8 Deficiency, Type Ii 20
1918 c ZMM003 Zimmermann-Laband Syndrome 2 19
1919 c SCH067 Schwannomatosis-2 19
1920 C8D002 C8 Deficiency, Type I 18
1921 c SPR048 Supranuclear Palsy, Progressive, 3 14
1922 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 13
1923 c UNC019 Uncombable Hair Syndrome 2 13
1924 c UNC018 Uncombable Hair Syndrome 3 13
1925 c KDM001 Kdm6a-Related Kabuki Syndrome 8
1926 c ACT121 Acta1-Related Congenital Fiber-Type Disproportion 6
1927 c TPM005 Tpm3-Related Congenital Fiber-Type Disproportion 6
1928 c KMT001 Kmt2d-Related Kabuki Syndrome 6
1929 c KLF002 Kleefstra Syndrome Due to a Point Mutation 6
1930 c APL021 Aplastic Anemia, Ifng-Related 5
1931 c APL031 Aplastic Anemia, Prf1-Related 5
1932 c RYR004 Ryr1-Related Congenital Fiber-Type Disproportion 5
1933 c PRG046 Progressive Supranuclear Palsy, Mapt-Related 5
1934 c FLN004 Flna-Related X-Linked Cardiac Valvular Dysplasia 5
1935 c MYH013 Myh7-Related Congenital Fiber-Type Disproportion 4
1936 c SLN007 Selenon-Related Congenital Fiber-Type Disproportion 4
1937 c TPM007 Tpm2-Related Congenital Fiber-Type Disproportion 4
1938 MLD001 Melioidosis 65
1939 P CRN015 Cornelia De Lange Syndrome 64
1940 HTC002 Hutchinson-Gilford Progeria 63
1941 P CNT061 Conotruncal Heart Malformations 61
1942 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
1943 WGN006 Wegener Granulomatosis 61
1944 P CNG015 Congenital Diaphragmatic Hernia 60
1945 DSM004 Desmoid Tumor 60
1946 FCT007 Factor Vii Deficiency 59
1947 MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 57
1948 P HYP035 Hypophosphatasia 57
1949 P CTR002 Cataract 57
1950 P RCK004 Rickets 57
1951 P SLV001 Silver-Russell Syndrome 56
1952 P PRM011 Primary Ciliary Dyskinesia 56
1953 GLB001 Gilbert Syndrome 56
1954 P HLL001 Hallermann-Streiff Syndrome 55
1955 P MCK022 Meckel Syndrome 1 54
1956 P SCK004 Seckel Syndrome 54
1957 P GLY010 Glycine Encephalopathy 53
1958 CYS010 Cystinosis 53
1959 P RTN016 Retinal Degeneration 53
1960 P ALT001 Alternating Hemiplegia of Childhood 53
1961 URB001 Urbach-Wiethe Disease 50
1962 WHP001 Whipple Disease 50
1963 GDP001 Goodpasture Syndrome 49
1964 ALP007 Alpha 1-Antitrypsin Deficiency 48
1965 c HYP293 Hypophosphatasia, Adult 48
1966 RGH009 Right Atrial Isomerism 48
1967 P WLL002 Weill-Marchesani Syndrome 48
1968 P OPN001 Open-Angle Glaucoma 48
1969 PST062 Pustulosis Palmaris Et Plantaris 47
1970 c GLY011 Glycogen Storage Disease Vii 47
1971 TWN001 Twin-to-Twin Transfusion Syndrome 46
1972 P CRT033 Corticobasal Degeneration 46
1973 c MCL046 Mucolipidosis Iii Alpha/beta 46
1974 P HRP009 Herpes Simplex Encephalitis 46
1975 CLD007 Cold Agglutinin Disease 46
1976 MRC002 Marcus Gunn Phenomenon 45
1977 c SPN311 Spinocerebellar Ataxia 13 45
1978 c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 45
1979 c BRC079 Brachydactyly, Type A2 44
1980 HST006 Histidinemia 44
1981 CTY001 Cat Eye Syndrome 43
1982 c HYP292 Hypophosphatasia, Infantile 43
1983 GLT007 Glutathione Synthetase Deficiency 43
1984 P PRM018 Primary Hypertrophic Osteoarthropathy 43
1985 AMB001 Amebiasis 43
1986 SCR002 Scurvy 43
1987 c XNT010 Xanthinuria, Type I 43
1988 GNT031 Genitopatellar Syndrome 43
1989 c CRN139 Cornelia De Lange Syndrome 1 42
1990 WDM004 Wiedemann-Steiner Syndrome 42
1991 c AMY067 Amyotrophic Lateral Sclerosis 18 42
1992 KPS002 Kaposiform Hemangioendothelioma 42
1993 LRW001 Leri-Weill Dyschondrosteosis 41
1994 TRC023 Trichinosis 41
1995 PRS115 Prosthetic Joint Infection 41
1996 P DWL001 Dowling-Degos Disease 41
1997 c AMY069 Amyotrophic Lateral Sclerosis 21 41
1998 c DWL002 Dowling-Degos Disease 1 41
1999 c CTR130 Cataract 9, Multiple Types 40
2000 SPR007 Superior Mesenteric Artery Syndrome 40
2001 c SCN005 Secondary Hypertrophic Osteoarthropathy 40
2002 CNT070 Centronuclear Myopathy, Autosomal, Modifier of 40
2003 PYR037 Pyruvate Carboxylase Deficiency 39
2004 c DYS103 Dystonia-1, Torsion 39
2005 OCL069 Ocular Motor Apraxia 39
2006 HYL004 Hyaline Fibromatosis Syndrome 39
2007 c CTR115 Cataract 16, Multiple Types 38
2008 ART035 Arterial Calcification of Infancy 38
2009 c CTR141 Cataract 21, Multiple Types 38
2010 CHR492 Chromosome 13q14 Deletion Syndrome 38
2011 c CTR118 Cataract 14, Multiple Types 38
2012 c CTR098 Cataract 1, Multiple Types 38
2013 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 37
2014 c AMY059 Amyotrophic Lateral Sclerosis 19 37
2015 MLG098 Malignant Mixed Mullerian Tumor 37
2016 P SRT003 Sertoli-Leydig Cell Tumor 36
2017 c RTN087 Retinal Degeneration, Late-Onset, Autosomal Dominant 36
2018 NCT003 N-Acetylglutamate Synthase Deficiency 36
2019 P XNT004 Xanthinuria 35
2020 c LPD019 Lipodystrophy, Partial, Acquired 35
2021 c CTR132 Cataract 3, Multiple Types 35
2022 c CTR125 Cataract 7 35
2023 ADP007 Adie Pupil 35
2024 FRY001 Frey Syndrome 35
2025 c CTR145 Cataract 44 35
2026 ACD004 Acdc 35
2027 c CTR096 Cataract 6, Multiple Types 34
2028 c AMY062 Amyotrophic Lateral Sclerosis 12 34
2029 TKL001 Tukel Syndrome 34
2030 MLN011 Malonyl-Coa Decarboxylase Deficiency 34
2031 CRB079 Cerebrospinal Fluid Leak 34
2032 c GLC074 Glaucoma 1a, Primary Open Angle 34
2033 MPP001 Mpph Syndrome 34
2034 c CTR102 Cataract 2, Multiple Types 34
2035 CTL005 Catel-Manzke Syndrome 33
2036 c CTR103 Cataract 4, Multiple Types 33
2037 P CRB154 Cerebrocostomandibular Syndrome 33
2038 c CTR121 Cataract 25 33
2039 c SCH069 Schindler Disease, Type I 33
2040 c CTR122 Cataract 5, Multiple Types 32
2041 c XNT011 Xanthinuria, Type Ii 32
2042 c ALB010 Albinism, Oculocutaneous, Type Ib 32
2043 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
2044 c WLL027 Weill-Marchesani Syndrome 1, Recessive 32
2045 P SCH017 Schindler Disease 32
2046 c CTR124 Cataract 10, Multiple Types 31
2047 P CRN282 Corneal Endothelial Dystrophy, Autosomal Recessive 31
2048 c AMY063 Amyotrophic Lateral Sclerosis 20 31
2049 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
2050 P DYS067 Dystonia 6, Torsion 31
2051 ECT063 Ectodermal Dysplasia 3, Witkop Type 31
2052 DBR002 De Barsy Syndrome 31
2053 c WLL026 Weill-Marchesani Syndrome 2, Dominant 30
2054 c SCK009 Seckel Syndrome 1 30
2055 c AMY055 Amyotrophic Lateral Sclerosis 17 30
2056 c CLR066 Ciliary Dyskinesia, Primary, 2 30
2057 YCH001 Y Chromosome Infertility 30
2058 HMC038 Hemochromatosis, Neonatal 29
2059 c SCK033 Seckel Syndrome 8 29
2060 SPR035 Superior Vena Cava Syndrome 29
2061 YNG002 Young Syndrome 29
2062 c SCK010 Seckel Syndrome 4 29
2063 IVC001 Ivic Syndrome 29
2064 c CLR105 Ciliary Dyskinesia, Primary, 20 29
2065 c SCK011 Seckel Syndrome 5 29
2066 GRS001 Gerstmann Syndrome 28
2067 c CLR042 Ciliary Dyskinesia, Primary, 6 28
2068 c CRN134 Cornelia De Lange Syndrome 2 28
2069 c CLR068 Ciliary Dyskinesia, Primary, 5 28
2070 c CLR092 Ciliary Dyskinesia, Primary, 18 28
2071 c CRN135 Cornelia De Lange Syndrome 3 28
2072 P XLN012 X-Linked Congenital Stationary Night Blindness 28
2073 c CTR167 Cataract 22 28
2074 c CTR134 Cataract 23 28
2075 MDN008 Median Arcuate Ligament Syndrome 28
2076 c ALT007 Alternating Hemiplegia of Childhood 2 27
2077 HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 27
2078 c CLR114 Ciliary Dyskinesia, Primary, 30 27
2079 c HRD142 Hereditary Xanthinuria 27
2080 c MCK017 Meckel Syndrome 4 27
2081 c CLR104 Ciliary Dyskinesia, Primary, 15 27
2082 c CLR056 Ciliary Dyskinesia, Primary, 10 27
2083 c CRN215 Cornelia De Lange Syndrome 4 27
2084 c CLR101 Ciliary Dyskinesia, Primary, 25 27
2085 c CRN209 Cornelia De Lange Syndrome 5 27
2086 KLV001 Kluver-Bucy Syndrome 26
2087 c CLR088 Ciliary Dyskinesia, Primary, 21 26
2088 c HYP533 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 26
2089 c CLR091 Ciliary Dyskinesia, Primary, 14 26
2090 c BRC062 Brachydactyly, Type D 26
2091 c HRP023 Herpes Simplex Encephalitis 1 26
2092 c CTR158 Cataract 37 26
2093 c CLR106 Ciliary Dyskinesia, Primary, 26 26
2094 c CLR054 Ciliary Dyskinesia, Primary, 12 26
2095 c CTR131 Cataract 17, Multiple Types 26
2096 c CLR097 Ciliary Dyskinesia, Primary, 23 26
2097 c CTR136 Cataract 41 26
2098 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 26
2099 TYR005 Tyrosine Hydroxylase Deficiency 26
2100 c SCK015 Seckel Syndrome 2 25
2101 c CLR107 Ciliary Dyskinesia, Primary, 24 25
2102 c CTR165 Cataract 19, Multiple Types 25
2103 c CLR099 Ciliary Dyskinesia, Primary, 16 25
2104 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 25
2105 P SNG004 Singleton Merten Syndrome 25
2106 c MCK016 Meckel Syndrome 6 25
2107 c AMY074 Amyotrophic Lateral Sclerosis Type 14 25
2108 c CTR111 Cataract 36 25
2109 c RCK006 Rickets Due to Defect in Vitamin D 25-Hydroxylation 25
2110 c NGH020 Night Blindness, Congenital Stationary , 2a, X-Linked 25
2111 HYP160 Hyperkeratosis Lenticularis Perstans 24
2112 c CTR116 Cataract 15, Multiple Types 24
2113 c BRC052 Brachydactyly, Type B2 24
2114 c WLL011 Weill-Marchesani-Like Syndrome 24
2115 MYT019 May-Thurner Syndrome 24
2116 c CTR106 Cataract 20, Multiple Types 24
2117 VNM004 Van Maldergem Syndrome 24
2118 c CLR094 Ciliary Dyskinesia, Primary, 28 24
2119 c MCK019 Meckel Syndrome 5 24
2120 CHR266 Chromosome 8p23.1 Deletion 23
2121 c CLR125 Ciliary Dyskinesia, Primary, 33 23
2122 c SPS091 Spastic Paraplegia 4 23
2123 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 23
2124 c CLR095 Ciliary Dyskinesia, Primary, 19 23
2125 PGD001 Pagod Syndrome 23
2126 c MCK026 Meckel Syndrome 12 23
2127 c CLR098 Ciliary Dyskinesia, Primary, 27 23
2128 c CLR117 Ciliary Dyskinesia, Primary, 32 23
2129 c CLR090 Ciliary Dyskinesia, Primary, 22 23
2130 c CLR059 Ciliary Dyskinesia, Primary, 13 23
2131 c GLC079 Glaucoma 1, Open Angle, P 23
2132 c SNG011 Singleton-Merten Syndrome 1 23
2133 c CLR102 Ciliary Dyskinesia, Primary, 17 23
2134 c CLR116 Ciliary Dyskinesia, Primary, 29 22
2135 SPN125 Spondyloenchondrodysplasia 22
2136 c CTR166 Cataract 33, Multiple Types 22
2137 c CLR053 Ciliary Dyskinesia, Primary, 11 22
2138 c CTR160 Cataract 45 22
2139 c SCK029 Seckel Syndrome 7 22
2140 c BRC075 Brachydactyly, Type A1, C 22
2141 c CTR105 Cataract 12, Multiple Types 22
2142 c WLL025 Weill-Marchesani Syndrome 3, Recessive 22
2143 P TTH021 Tethered Cord Syndrome 22
2144 c CTR144 Cataract 43 22
2145 PRN035 Perniosis 22
2146 MLD004 Mal De Debarquement 22
2147 c CTR139 Cataract 42 22
2148 CHR281 Chronic Hiccups 21
2149 c BRC060 Brachydactyly, Type E2 21
2150 c CTR109 Cataract 38, Autosomal Recessive 21
2151 MLD010 Mild Phenylketonuria 21
2152 c CTR101 Cataract 39, Multiple Types, Autosomal Dominant 21
2153 EGL001 Eagle Syndrome 21
2154 LNR010 Linear Lichen Planus 21
2155 P ALP068 Alopecia-Intellectual Disability Syndrome 21
2156 c BRC080 Brachydactyly, Type A1, B 21
2157 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 21
2158 c HRP030 Herpes Simplex Encephalitis 7 21
2159 c MCK018 Meckel Syndrome 8 21
2160 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 20
2161 ACR019 Acropectoral Syndrome 20
2162 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 20
2163 c HRP028 Herpes Simplex Encephalitis 3 20
2164 c HRP024 Herpes Simplex Encephalitis 2 20
2165 LCH008 Lichen Planus Pigmentosus 20
2166 c CLR126 Ciliary Dyskinesia, Primary, 35 20
2167 c SCK032 Seckel Syndrome 6 19
2168 c CLR067 Ciliary Dyskinesia, Primary, 4 19
2169 c CTR128 Cataract 33 19
2170 c CTR163 Cataract 46, Juvenile-Onset 19
2171 c BRC105 Brachydactyly, Type A1, D 19
2172 FBR088 Fibromatosis, Gingival, with Progressive Deafness 19
2173 PYR015 Pyridoxal 5'-Phosphate-Dependent Epilepsy 19
2174 c DPH016 Diaphragmatic Hernia 3 19
2175 c CLR123 Ciliary Dyskinesia, Primary, 37 19
2176 c INF126 Infantile Glycine Encephalopathy 18
2177 c CTR159 Cataract 35 18
2178 c CTR097 Cataract 34, Multiple Types 18
2179 c CTR157 Cataract 28 18
2180 ACR107 Acrofacial Dysostosis, Palagonia Type 18
2181 c CLR069 Ciliary Dyskinesia, Primary, 8 18
2182 c GLC048 Glaucoma 1, Open Angle, I 18
2183 c ACR105 Acrofrontofacionasal Dysostosis 2 18
2184 c SCK038 Seckel Syndrome 10 18
2185 c SCK037 Seckel Syndrome 9 18
2186 c MCK021 Meckel Syndrome 9 18
2187 c CRN068 Corneal Endothelial Dystrophy Type 2 18
2188 c CLR124 Ciliary Dyskinesia, Primary, 34 18
2189 c DWL003 Dowling-Degos Disease 2 17
2190 DSS022 Disseminated Peritoneal Leiomyomatosis 17
2191 c MCK027 Meckel Syndrome 11 17
2192 c CTR127 Cataract 19 17
2193 c SNG012 Singleton-Merten Syndrome 2 17
2194 c BRC069 Brachydactyly of Toes 17
2195 c GLC059 Glaucoma 1, Open Angle, 1o 17
2196 c CTR110 Cataract 26, Multiple Types 17
2197 c MCK023 Meckel Syndrome 10 16
2198 BRC100 Brachydactyly, Combined B and E Types 16
2199 GM3001 Gm3 Synthase Deficiency 16
2200 BRC018 Brachioskeletogenital Syndrome 16
2201 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 16
2202 c TRS025 Torsion Dystonia 2 16
2203 c MCK028 Meckel Syndrome 13 16
2204 c DWL004 Dowling-Degos Disease 4 16
2205 ABS001 Absence of Fingerprints Congenital Milia 15
2206 OGL001 Ogilvie Syndrome 15
2207 CLD006 Cleidorhizomelic Syndrome 15
2208 ABS007 Absent Patella 15
2209 c TRS026 Torsion Dystonia 7 15
2210 c CTR040 Cataracts, Autosomal Recessive 14
2211 c MRD001 Marden Walker Like Syndrome 14
2212 c DNT047 Dentinogenesis Imperfecta Type 2 14
2213 ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 14
2214 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 14
2215 c SD1001 Sod1-Related Amyotrophic Lateral Sclerosis 14
2216 RGH003 Right Ventricle Hypoplasia 14
2217 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 13
2218 c TCT005 Tctn2-Related Meckel Syndrome 13
2219 c VPB001 Vapb-Related Amyotrophic Lateral Sclerosis 13
2220 c TRS027 Torsion Dystonia 4 13
2221 c NPB001 Nipbl-Related Cornelia De Lange Syndrome 13
2222 c SPG004 Spg11-Related Amyotrophic Lateral Sclerosis 13
2223 SCN061 Scn8a Encephalopathy 12
2224 c PRM246 Primary Tethered Cord Syndrome 12
2225 ACN013 Acanthocheilonemiasis 12
2226 c B9D001 B9d1-Related Meckel Syndrome 12
2227 OCL031 Oculo-Cerebral Dysplasia 12
2228 ADL094 Adolescent-Onset Dystonia of Mixed Type 12
2229 c B9D002 B9d2-Related Meckel Syndrome 12
2230 BNG042 Benign Multicystic Peritoneal Mesothelioma 12
2231 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
2232 ANP019 Anophthalmos with Limb Anomalies 12
2233 LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12
2234 c DNT048 Dentinogenesis Imperfecta Type 3 12
2235 c TMM014 Tmem231-Related Meckel Syndrome 12
2236 c TRS024 Torsion Dystonia 13 11
2237 c CTR146 Cataract, Autosomal Dominant Congenital 4 11
2238 c CRN107 Corneal Endothelial Dystrophy 2, Autosomal Recessive 11
2239 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 11
2240 c STX001 Setx-Related Amyotrophic Lateral Sclerosis 11
2241 c TRS005 Torsion Dystonia with Onset in Infancy 10
2242 c DWL005 Dowling-Degos Disease 3 10
2243 c OPT036 Optn-Related Amyotrophic Lateral Sclerosis 10
2244 c PFN001 Pfn1-Related Amyotrophic Lateral Sclerosis 10
2245 c CHR227 Chromosome 20 Trisomy 10
2246 CRD019 Cardiocranial Syndrome 10
2247 LYM044 Lymphocytic Infiltrate of Jessner 10
2248 c ATS028 Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis 10
2249 c FG4001 Fig4-Related Amyotrophic Lateral Sclerosis 10
2250 c FSR003 Fus-Related Amyotrophic Lateral Sclerosis 10
2251 c HNR002 Hnrnpa1-Related Amyotrophic Lateral Sclerosis 10
2252 c SQS001 Sqstm1-Related Amyotrophic Lateral Sclerosis 10
2253 c GLC049 Glaucoma, Primary Open Angle, Juvenile-Onset, 2 10
2254 RRD001 Reardon Wilson Cavanagh Syndrome 9
2255 c KF1003 Kif14-Related Meckel Syndrome 9
2256 c CC2002 Cc2d2a-Related Meckel Syndrome 9
2257 c FX3002 Foxe3-Related Cataracts, Autosomal Dominant 9
2258 ISL037 Isolated Anterior Cervical Hypertrichosis 9
2259 c ERB003 Erbb4-Related Amyotrophic Lateral Sclerosis 9
2260 c SGM009 Sigmar1-Related Amyotrophic Lateral Sclerosis 9
2261 c ATP012 Atp1a3-Related Alternating Hemiplegia of Childhood 9
2262 c LTB002 Ltbp2-Related Weill-Marchesani Syndrome 9
2263 c MLG021 Malignant Sertoli-Leydig Cell Tumor 9
2264 DNM003 Daneman Davy Mancer Syndrome 9
2265 c SMC001 Smc1a-Related Cornelia De Lange Syndrome 9
2266 c HLL012 Hallermann-Streiff-Like Syndrome 9
2267 HYP642 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 9
2268 c RD2001 Rad21-Related Cornelia De Lange Syndrome 8
2269 c ANG036 Ang-Related Amyotrophic Lateral Sclerosis 8
2270 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 8
2271 c ATP011 Atp1a2-Related Alternating Hemiplegia of Childhood 8
2272 c FBN002 Fbn1-Related Weill-Marchesani Syndrome 8
2273 EPL008 Epilepsy Occipital Calcifications 8
2274 c HXD001 Hoxd13-Related Brachydactyly 7
2275 c ANX009 Anxa11-Related Amyotrophic Lateral Sclerosis 7
2276 3LP002 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 7
2277 c SMC002 Smc3-Related Cornelia De Lange Syndrome 7
2278 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
2279 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 7
2280 c TRS028 Torsion Dystonia 17 7
2281 c CP2004 Cep290-Related Meckel Syndrome 7
2282 c MKS002 Mks1-Related Meckel Syndrome 7
2283 c NPH041 Nphp3-Related Meckel Syndrome 7
2284 c RPG002 Rpgrip1l-Related Meckel Syndrome 7
2285 c TMM004 Tmem216-Related Meckel Syndrome 7
2286 c TMM007 Tmem67-Related Meckel Syndrome 7
2287 c CFC001 Cfc1-Related Conotruncal Heart Malformations 6
2288 c ADM006 Adamts10-Related Weill-Marchesani Syndrome 6
2289 c HDC004 Hdac8-Related Cornelia De Lange Syndrome 6
2290 c AMT002 Amt-Related Glycine Encephalopathy 5
2291 c GCS001 Gcsh-Related Glycine Encephalopathy 5
2292 c GLD004 Gldc-Related Glycine Encephalopathy 5
2293 c CCN004 Cacna1f-Related X-Linked Congenital Stationary Night Blindness 5
2294 c NYX001 Nyx-Related X-Linked Congenital Stationary Night Blindness 5
2295 15Q006 15q13.3 Microduplication Syndrome 5
2296 c CRT038 Corticobasal Degeneration, Mapt-Related 4
2297 c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 4
2298 WLS001 Wilson Disease 73
2299 PHN003 Phenylketonuria 72
2300 c MCL042 Macular Degeneration, Age-Related, 1 72
2301 CRZ001 Crouzon Syndrome 70
2302 P PRK057 Parkinson Disease, Late-Onset 68
2303 c MLT136 Multiple Endocrine Neoplasia 1 68
2304 APR006 Apert Syndrome 68
2305 P ATR011 Atrial Fibrillation 65
2306 AND015 Androgen Insensitivity 63
2307 P WLD002 Waldenstrom Macroglobulinemia 63
2308 MCK007 Muckle-Wells Syndrome 63
2309 PLM134 Pulmonary Fibrosis, Idiopathic 62
2310 c LNG044 Long Qt Syndrome 1 62
2311 P INF037 Inflammatory Bowel Disease 62
2312 P CLD001 Cleidocranial Dysplasia 62
2313 P HRM001 Hermansky-Pudlak Syndrome 61
2314 GTL001 Gitelman Syndrome 61
2315 CRN036 Craniopharyngioma 59
2316 P TMT001 Timothy Syndrome 58
2317 STS003 Sitosterolemia 58
2318 P GRV001 Graves' Disease 57
2319 BTN003 Biotinidase Deficiency 57
2320 P PND002 Pendred Syndrome 56
2321 SCH014 Schistosomiasis 56
2322 c TYR012 Tyrosinemia, Type I 55
2323 VGT001 Vogt-Koyanagi-Harada Disease 55
2324 PSD014 Pseudopseudohypoparathyroidism 55
2325 ERD001 Erdheim-Chester Disease 54
2326 P LPR002 Leopard Syndrome 54
2327 c FML001 Familial Atrial Fibrillation 54
2328 P FTL001 Fetal Alcohol Syndrome 53
2329 ZLL002 Zollinger-Ellison Syndrome 53
2330 CCC001 Coccidioidomycosis 53
2331 CRS005 Crest Syndrome 52
2332 c HRM005 Hermansky-Pudlak Syndrome 1 52
2333 CHR619 Chromosome 2q35 Duplication Syndrome 52
2334 MTC020 Mitochondrial Complex Ii Deficiency 52
2335 SLC006 Silicosis 52
2336 PHL006 Phelan-Mcdermid Syndrome 51
2337 MYC002 Mycobacterium Avium Complex Disease 51
2338 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 50
2339 PRT058 Pure Autonomic Failure 50
2340 P HYP065 Hyperaldosteronism 50
2341 TRD006 Tardive Dyskinesia 50
2342 c EHL032 Ehlers-Danlos Syndrome, Type Viib 50
2343 ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 49
2344 MLB001 Mulibrey Nanism 49
2345 KRT002 Keratomalacia 49
2346 c HRM006 Hermansky-Pudlak Syndrome 3 49
2347 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
2348 P PTN002 Patent Ductus Arteriosus 48
2349 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
2350 CNR007 Cone-Rod Dystrophy 6 47
2351 P FML068 Familial Hypocalciuric Hypercalcemia 47
2352 P PLG001 Pelger-Huet Anomaly 46
2353 c ATS275 Autosomal Recessive Primary Microcephaly 46
2354 PLM041 Pulmonary Valve Stenosis 46
2355 c ACH021 Achromatopsia 3 45
2356 BRK001 Brooke-Spiegler Syndrome 45
2357 c HRM008 Hermansky-Pudlak Syndrome 5 45
2358 c LNG057 Long Qt Syndrome 13 45
2359 FDB001 Foodborne Botulism 45
2360 FLT006 Floating-Harbor Syndrome 44
2361 HNC001 Henoch-Schoenlein Purpura 44
2362 c GRV008 Graves Disease 1 44
2363 RSD004 Rosai-Dorfman Disease 44
2364 c LNG056 Long Qt Syndrome 12 44
2365 c LNG096 Long Qt Syndrome 15 44
2366 c FML191 Familial Long Qt Syndrome 44
2367 GLC011 Galactose Epimerase Deficiency 44
2368 P DNR001 Duane Retraction Syndrome 43
2369 c FTL006 Fetal Alcohol Spectrum Disorder 43
2370 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 42
2371 IDP033 Idiopathic Edema 42
2372 c INF086 Inflammatory Bowel Disease 3 41
2373 VSC018 Visceral Steatosis 41
2374 c INF087 Inflammatory Bowel Disease 4 41
2375 FBR008 Fibrillary Astrocytoma 41
2376 c TYR011 Tyrosinemia, Type Iii 41
2377 c 46X001 46 Xy Gonadal Dysgenesis 41
2378 LNR006 Linear Iga Disease 41
2379 WLC001 Wolcott-Rallison Syndrome 41
2380 c CHR579 Chiari Malformation Type Ii 40
2381 P BRN006 Branchiootorenal Syndrome 40
2382 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 40
2383 TLP001 Talipes Equinovarus 40
2384 c HYP288 Hypercholesterolemia, Due to Ligand-Defective Apo B 40
2385 PRX034 Peroxisome Disorders 39
2386 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 39
2387 c HRM009 Hermansky-Pudlak Syndrome 6 39
2388 c PRM212 Primary Microcephaly 39
2389 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
2390 RTR011 Retroperitoneal Fibrosis 38
2391 c HYP272 Hypercholesterolemia, Familial, 3 38
2392 MLD003 Meleda Disease 38
2393 c SPN094 Spinocerebellar Ataxia 18 37
2394 KLN009 Kleine-Levin Hibernation Syndrome 37
2395 c INF095 Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 37
2396 DRC001 Dracunculiasis 37
2397 c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 36
2398 c FML156 Familial Hyperaldosteronism 36
2399 YWS001 Yaws 35
2400 GRV012 Grover's Disease 35
2401 c HYP367 Hypercholesterolemia, Familial, Autosomal Recessive 35
2402 c INF089 Inflammatory Bowel Disease 6 35
2403 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 35
2404 MRK002 Marek Disease 34
2405 c GM1006 Gm1-Gangliosidosis, Type Iii 34
2406 c LNG098 Long Qt Syndrome 14 34
2407 c HRM007 Hermansky-Pudlak Syndrome 4 34
2408 47X001 47,xyy Syndrome 34
2409 c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34
2410 TRS007 Trismus-Pseudocamptodactyly Syndrome 34
2411 PLM052 Pulmonary Arteriovenous Malformation 33
2412 CHR355 Chromosome 15q13.3 Microdeletion Syndrome 33
2413 MYT015 Myotonia Congenita, Atypical, Acetazolamide-Responsive 33
2414 c INF092 Inflammatory Bowel Disease 9 33
2415 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 33
2416 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 33
2417 c LPR012 Leopard Syndrome 1 33
2418 c INF078 Inflammatory Bowel Disease 2 32
2419 LNG054 Lung Agenesis 32
2420 HMM002 Haim-Munk Syndrome 32
2421 c INF088 Inflammatory Bowel Disease 5 32
2422 PNN005 Panencephalitis, Subacute Sclerosing 32
2423 c HRM012 Hermansky-Pudlak Syndrome 9 32
2424 CRS012 Carasil Syndrome 31
2425 c MCL043 Macular Degeneration, Age-Related, 2 31
2426 AMN007 Aminoacylase 1 Deficiency 31
2427 c HRM011 Hermansky-Pudlak Syndrome 8 31
2428 PRT049 Partial Deletion of Y 30
2429 c MGR031 Migraine, Familial Hemiplegic, 3 30
2430 c MCR161 Macroglobulinemia, Waldenstrom 1 30
2431 c SPR083 Sporadic Hemiplegic Migraine 30
2432 P MTP005 Metaphyseal Anadysplasia 30
2433 c SPN104 Spinocerebellar Ataxia 34 30
2434 AMN009 Amniotic Band Syndrome 29
2435 PND004 Pandas 29
2436 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 29
2437 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 29
2438 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 29
2439 c INF075 Inflammatory Bowel Disease 16 29
2440 5LP001 5-Alpha Reductase Deficiency 28
2441 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 28
2442 c HRM010 Hermansky-Pudlak Syndrome 7 28
2443 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28
2444 GLT005 Glutamate Formiminotransferase Deficiency 28
2445 c HYP600 Hyperaldosteronism, Familial, Type Ii 28
2446 c ATR061 Atrial Fibrillation, Familial, 10 27
2447 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 27
2448 c INF090 Inflammatory Bowel Disease 7 27
2449 TST023 Testotoxicosis 27
2450 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 27
2451 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 27
2452 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 27
2453 FRN022 Frontofacionasal Dysplasia 27
2454 c SYN060 Syndactyly, Type Iii 27
2455 WLD004 Wildervanck Syndrome 26
2456 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 26
2457 c PRM015 Primary Cerebellar Degeneration 26
2458 SCC010 Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 26
2459 c MCL036 Macular Degeneration, Age-Related, 6 26
2460 c LPR007 Leopard Syndrome 3 26
2461 c INF077 Inflammatory Bowel Disease 19 26
2462 c ATR038 Atrial Fibrillation, Familial, 3 26
2463 c MCL038 Macular Degeneration, Age-Related, 4 26
2464 c ATR075 Atrial Fibrillation 15 26
2465 c MCL030 Macular Degeneration, Age-Related, 10 25
2466 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
2467 c MCL064 Macular Degeneration, Age-Related 5 25
2468 c FML306 Familial or Sporadic Hemiplegic Migraine 25
2469 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 25
2470 NTR011 Neutrophil-Specific Granule Deficiency 25
2471 FBR028 Fibrosing Mediastinitis 25
2472 c LPR011 Leopard Syndrome 2 25
2473 c HRM020 Hermansky-Pudlak Syndrome 10 25
2474 c MCL052 Macular Degeneration, Age-Related, 13 25
2475 c MCL039 Macular Degeneration, Age-Related, 8 25
2476 c MCL041 Macular Degeneration, Age-Related, 7 25
2477 c ATR069 Atrial Fibrillation, Familial, 12 25
2478 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 24
2479 c INF068 Inflammatory Bowel Disease 13