Genetic Diseases Category (7648 diseases)


Including: Genetic, Mendelian, Monogenic, Inherited, Familial
See other categories (disease lists)

# Family MCID Name MIFTS
1 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2 AMY082 Amyloidosis, Familial Visceral 51
3 FML026 Familial Lipoprotein Lipase Deficiency 49
4 P FML018 Familial Mediterranean Fever 73
5 FML089 Familial Thoracic Aortic Aneurysm and Dissection 48
6 P MLT048 Multiple Familial Trichoepithelioma 35
7 P FML011 Familial Adenomatous Polyposis 71
8 c FML346 Familial Adenomatous Polyposis 1 67
9 P SZR006 Seizure Disorder 61
10 c SZR007 Seizures, Benign Familial Infantile, 3 46
11 c SCN009 Scn1a-Related Seizure Disorders 8
12 c PRG126 Progressive Familial Heart Block 50
13 P HRT035 Heart Block, Congenital 45
14 PRM175 Primary Familial Brain Calcification 44
15 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 54
16 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 40
17 P HYP607 Hypercholesterolemia, Familial 81
18 P CND004 Candidiasis 63
19 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 46
20 c CND037 Candidiasis, Familial, 6 19
21 HYP190 Hypoalphalipoproteinemia, Primary 60
22 P PRG047 Progressive Familial Intrahepatic Cholestasis 55
23 c SZR014 Seizures, Benign Familial Infantile, 1 25
24 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
25 c PRG042 Progressive Familial Heart Block, Type Ia 59
26 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
27 c LPD019 Lipodystrophy, Partial, Acquired 44
28 BNG006 Benign Familial Neonatal Epilepsy 42
29 c HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
30 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 42
31 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 42
32 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
33 P HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 32
34 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 30
35 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
36 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 27
37 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 26
38 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 25
39 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
40 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 24
41 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
42 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 24
43 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 24
44 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 23
45 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 23
46 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 23
47 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 23
48 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 23
49 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
50 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 22
51 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 22
52 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
53 P PLY018 Polycythemia 60
54 c PRM012 Primary Polycythemia 56
55 c ACQ010 Acquired Polycythemia 39
56 c ATS209 Autosomal Dominant Secondary Polycythemia 20
57 c PLY005 Polycythemia Due to Hypoxia 6
58 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 40
59 P BNG026 Benign Neonatal Seizures 39
60 FTL002 Fatal Familial Insomnia 51
61 P FML052 Familial Cold Autoinflammatory Syndrome 53
62 P EPS030 Episodic Kinesigenic Dyskinesia 1 50
63 c MYC068 Myoclonic Epilepsy of Infancy 37
64 P EPL198 Epilepsy, Myoclonic Juvenile 32
65 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
66 c EPL155 Epilepsy, Progressive Myoclonic, 8 27
67 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 26
68 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
69 c EPL134 Epilepsy, Progressive Myoclonic 7 24
70 c EPS013 Episodic Kinesigenic Dyskinesia 2 23
71 c EPL188 Epilepsy, Progressive Myoclonic, 10 22
72 c EPL207 Epilepsy, Progressive Myoclonic, 1b 22
73 c MYC086 Myoclonic Epilepsy, Juvenile 4 17
74 c EPL186 Epilepsy, Juvenile Myoclonic 9 16
75 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
76 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
77 P ATT003 Attenuated Familial Adenomatous Polyposis 51
78 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 48
79 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 47
80 P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 35
81 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 35
82 c CND034 Candidiasis, Familial, 2 30
83 c FML157 Familial Male-Limited Precocious Puberty 30
84 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 18
85 MTR030 Mitral Valve Prolapse, Familial, X-Linked 25
86 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 12
87 P HYP724 Hyperlipoproteinemia, Type Iii 63
88 c HYP731 Hyperaldosteronism, Familial, Type I 56
89 P PTT006 Pituitary Adenoma 54
90 c PTT056 Pituitary Adenoma 1, Multiple Types 53
91 c PRG043 Progressive Familial Heart Block, Type Ib 41
92 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 36
93 c PTT061 Pituitary Adenoma 3, Multiple Types 19
94 ABT001 Abetalipoproteinemia 67
95 PRD013 Periodic Fever, Familial, Autosomal Dominant 63
96 c ALZ056 Alzheimer Disease 3 53
97 CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 35
98 c ALZ045 Alzheimer Disease 9 27
99 c ALZ015 Alzheimer Disease 6 24
100 c ALZ062 Alzheimer Disease 19 24
101 c ALZ061 Alzheimer Disease 15 19
102 c ALZ032 Alzheimer Disease 18 18
103 c ALZ059 Alzheimer Disease 13 17
104 c ALZ060 Alzheimer Disease 14 15
105 c ALZ031 Alzheimer Disease 17 15
106 c ALZ014 Alzheimer Disease 16 14
107 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
108 P FML012 Familial Partial Lipodystrophy 52
109 c HYP768 Hyperlipoproteinemia, Type I 47
110 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
111 LRY047 Laryngeal Abductor Paralysis 24
112 CNV009 Convulsions Benign Familial Neonatal Dominant Form 18
113 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
114 P HYP050 Hyperinsulinemic Hypoglycemia 55
115 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
116 P FML156 Familial Hyperaldosteronism 37
117 c PRG101 Progressive Familial Heart Block, Type Ii 33
118 P CHN059 Chondrocalcinosis 48
119 CYL004 Cylindromatosis, Familial 37
120 c CHN022 Chondrocalcinosis 2 35
121 c CHN021 Chondrocalcinosis 1 16
122 P NTR004 Neutropenia 60
123 c SVR003 Severe Congenital Neutropenia 58
124 c FML023 Familial Hemiplegic Migraine 50
125 P HMP006 Hemiplegic Migraine 49
126 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
127 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 37
128 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
129 c HYP600 Hyperaldosteronism, Familial, Type Ii 35
130 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
131 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 28
132 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
133 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 26
134 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 26
135 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 23
136 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 22
137 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 21
138 c NTR045 Neutropenia, Chronic Familial 20
139 TMP005 Temporal Epilepsy, Familial 19
140 GNV002 Genu Valgum, St. Helena Familial 12
141 c ELN001 Elane-Related Neutropenia 6
142 BLS001 Blau Syndrome 59
143 P PRC038 Precocious Puberty, Male-Limited 47
144 FML063 Familial Glucocorticoid Deficiency 41
145 c MGR032 Migraine, Familial Hemiplegic, 1 40
146 c SZR023 Seizures, Benign Familial Neonatal, 2 33
147 BKS003 Beukes Hip Dysplasia 30
148 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 26
149 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
150 P EPL164 Epilepsy 72
151 P ATR011 Atrial Fibrillation 69
152 P CRB048 Cerebral Cavernous Malformations 63
153 P CRD132 Cardiac Conduction Defect 63
154 P HYP069 Hyperparathyroidism 59
155 c SCN007 Secondary Hyperparathyroidism 55
156 P PRN026 Porencephaly 48
157 c BNG023 Benign Familial Infantile Epilepsy 43
158 c FML001 Familial Atrial Fibrillation 40
159 c HYP243 Hyperparathyroidism 1 38
160 c FML084 Familial Porencephaly 31
161 c FML250 Familial Progressive Cardiac Conduction Defect 30
162 c ART028 Aortic Aneurysm, Familial Thoracic 4 29
163 c CRB051 Cerebral Cavernous Malformation, Familial 25
164 c CND036 Candidiasis, Familial, 4 25
165 P ACN018 Acne Inversa, Familial, 1 24
166 c HYP720 Hyperparathyroidism 4 19
167 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 15
168 c ACQ029 Acquired Porencephaly 13
169 c KCN020 Kcnt1-Related Epilepsy 5
170 c DPD002 Depdc5-Related Epilepsy 3
171 c PRG018 Paragangliomas 1 59
172 P PRG013 Paraganglioma 58
173 c HYP740 Hyperlipoproteinemia, Type V 52
174 HMT008 Hematuria, Benign Familial 45
175 P ADV001 Advanced Sleep Phase Syndrome 37
176 c NNS018 Nonsyndromic Paraganglioma 28
177 ATY012 Atypical Mycobacteriosis, Familial 27
178 IMM153 Immunodeficiency 51 22
179 c PRG094 Paragangliomas 5 21
180 MCR031 Macrocephaly, Benign Familial 15
181 P HYP818 Hypobetalipoproteinemia, Familial, 1 53
182 FML075 Familial Isolated Hyperparathyroidism 45
183 c HYP290 Hypobetalipoproteinemia, Familial, 2 43
184 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 33
185 c MGR030 Migraine, Familial Hemiplegic, 2 33
186 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 25
187 c SZR016 Seizures, Benign Familial Infantile, 2 24
188 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
189 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
190 DYS182 Dysphasia, Familial Developmental 36
191 P FML168 Familial Isolated Pituitary Adenoma 28
192 c BRS088 Breast-Ovarian Cancer, Familial 3 22
193 c BRS098 Breast-Ovarian Cancer, Familial 4 19
194 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 15
195 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
196 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
197 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 42
198 CPL013 Capillary Malformations, Congenital 38
199 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
200 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35
201 c BNG079 Benign Adult Familial Myoclonic Epilepsy 33
202 c HYP804 Hyperlipidemia, Combined, 1 33
203 c MTR080 Mitral Valve Prolapse 1 28
204 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
205 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 25
206 THM023 Thiemann Disease 21
207 c MTR077 Mitral Valve Prolapse 2 21
208 c MTR083 Mitral Valve Prolapse 3 20
209 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 20
210 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 19
211 CPP001 Copper Deficiency, Familial Benign 18
212 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 16
213 CRN069 Corneal Hypesthesia, Familial 15
214 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
215 OSS006 Ossicular Malformations, Familial 10
216 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
217 P PLR004 Pleuropulmonary Blastoma 62
218 P HYP614 Hyperlipidemia, Familial Combined 55
219 c SZR022 Seizures, Benign Familial Neonatal, 1 40
220 P HYP599 Hypoparathyroidism, Familial Isolated 40
221 EXD009 Exudative Vitreoretinopathy 2, X-Linked 32
222 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
223 c PLR018 Pleuropulmonary Blastoma Type 1 10
224 c PLR019 Pleuropulmonary Blastoma Type 2 7
225 c PLR020 Pleuropulmonary Blastoma Type 3 7
226 c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 63
227 P PMP001 Pemphigus 56
228 c BNG091 Benign Chronic Pemphigus 54
229 VTM028 Vitamin E, Familial Isolated Deficiency of 52
230 c BRS110 Breast-Ovarian Cancer, Familial 1 43
231 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 35
232 c MYC083 Myoclonic Epilepsy, Familial Infantile 33
233 c BRS111 Breast-Ovarian Cancer, Familial 2 24
234 c FML334 Familial Candidiasis 23
235 P PLM037 Pulmonary Hypertension 77
236 c PLM164 Pulmonary Hypertension, Primary, 1 70
237 P ART067 Aortic Aneurysm, Familial Thoracic 1 67
238 P TMP001 Temporal Lobe Epilepsy 58
239 EWN002 Ewing's Family of Tumors 57
240 P AMY084 Amyloidosis, Finnish Type 52
241 P EXD001 Exudative Vitreoretinopathy 50
242 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
243 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
244 P PSD003 Pseudohypoaldosteronism 46
245 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 41
246 c PSD092 Pseudohypoaldosteronism, Type Iie 39
247 ARM004 Aromatase Excess Syndrome 39
248 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
249 c PLM127 Pulmonary Hypertension, Primary, 3 35
250 c EPL128 Epilepsy, Familial Temporal Lobe, 3 32
251 c PRG021 Paragangliomas 4 31
252 c PLM128 Pulmonary Hypertension, Primary, 2 30
253 c PLM121 Pulmonary Hypertension, Primary, 4 28
254 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 24
255 c EXD010 Exudative Vitreoretinopathy 6 22
256 c EXD007 Exudative Vitreoretinopathy 3 22
257 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
258 c PSD094 Pseudohypoaldosteronism, Type Iib 21
259 c EXD012 Exudative Vitreoretinopathy 7 20
260 c PSD068 Pseudohypoaldosteronism, Type Iic 19
261 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
262 c TRN053 Transient Pseudohypoaldosteronism 19
263 IMM172 Immunodeficiency 34 18
264 DWR023 Dwarfism, Familial, with Muscle Spasms 14
265 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 14
266 c HRD010 Hereditary Spastic Paraplegia 68
267 c ART138 Aortic Aneurysm, Familial Abdominal, 1 66
268 c MNN043 Meningioma, Familial 63
269 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
270 P FBR031 Febrile Seizures 55
271 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
272 P FML068 Familial Hypocalciuric Hypercalcemia 50
273 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
274 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
275 P MYC033 Myoclonus 47
276 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
277 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
278 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
279 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
280 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
281 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
282 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
283 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
284 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
285 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
286 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
287 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 40
288 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
289 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
290 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
291 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
292 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
293 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
294 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
295 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
296 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
297 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
298 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
299 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
300 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
301 P BNG002 Benign Meningioma 36
302 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
303 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
304 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
305 P SPS012 Spastic Paraplegia 3a 35
306 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
307 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
308 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
309 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
310 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
311 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
312 c SPS039 Spastic Paraplegia 5a 33
313 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
314 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
315 c SPS036 Spastic Paraplegia 3 33
316 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
317 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
318 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
319 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
320 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
321 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
322 c SPS021 Spastic Paraplegia 10 30
323 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
324 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 30
325 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
326 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
327 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
328 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
329 c SPS092 Spastic Paraplegia 11 29
330 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
331 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
332 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
333 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
334 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
335 c SPS025 Spastic Paraplegia 15 28
336 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
337 c FML347 Familial Adenomatous Polyposis 2 28
338 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
339 c HRD186 Hereditary Spastic Paraplegia 51 28
340 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
341 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
342 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
343 c MGR031 Migraine, Familial Hemiplegic, 3 27
344 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
345 c SPS027 Spastic Paraplegia 17 27
346 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
347 c TRC095 Trichoepithelioma, Multiple Familial, 1 26
348 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 26
349 c SPS013 Spastic Paraplegia 8 25
350 c EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 25
351 c SPS020 Spastic Paraplegia 1 25
352 c MYC089 Myoclonus, Familial, 1 24
353 c SPS023 Spastic Paraplegia 13 24
354 c FBR072 Febrile Seizures, Familial, 11 24
355 c ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 23
356 c SPS042 Spastic Paraplegia 9 23
357 c SPS037 Spastic Paraplegia 31 22
358 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 22
359 c CND025 Candidiasis, Familial, 8 22
360 c SPS028 Spastic Paraplegia 18 22
361 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 22
362 c ATS420 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 22
363 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 22
364 c SPS034 Spastic Paraplegia 26 22
365 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
366 c SPS022 Spastic Paraplegia 12 20
367 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
368 c SPS032 Spastic Paraplegia 24 20
369 c HRD210 Hereditary Spastic Paraplegia 23 20
370 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
371 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
372 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
373 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
374 c SPS029 Spastic Paraplegia 19 20
375 c ACN016 Acne Inversa, Familial, 3 19
376 c SPS035 Spastic Paraplegia 29 19
377 c SPS033 Spastic Paraplegia 25 19
378 c SPS038 Spastic Paraplegia 39 19
379 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
380 c SPS080 Spastic Paraplegia 51 19
381 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
382 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
383 c SPS026 Spastic Paraplegia 16 18
384 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 18
385 c SPS161 Spastic Paraplegia 32 18
386 c HRD188 Hereditary Spastic Paraplegia 72 18
387 c SZR020 Seizures, Benign Familial Infantile, 5 18
388 c SPS024 Spastic Paraplegia 14 17
389 c SPS040 Spastic Paraplegia 5b 15
390 c SPS230 Spastic Paraplegia Type 49 14
391 c SPS165 Spastic Paraplegia 47 13
392 c ATS379 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 11
393 P HYP040 Hypospadias 58
394 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
395 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 54
396 P PRM001 Primary Cutaneous Amyloidosis 44
397 c EPL115 Epilepsy, Familial Temporal Lobe, 2 38
398 P GLM015 Glomerulopathy with Fibronectin Deposits 2 32
399 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
400 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
401 DRM050 Dermographism, Familial 27
402 MYX012 Myxoma, Intracardiac 27
403 c CRD176 Cardiomyopathy, Familial Restrictive, 1 26
404 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 26
405 c FML249 Familial Amyloidosis, Finnish Type 24
406 JNT001 Joint Laxity, Familial 22
407 c ART105 Aortic Aneurysm, Familial Thoracic 7 21
408 c CRD098 Cardiomyopathy, Familial Restrictive, 3 18
409 DSC014 Discoid Fibromas, Familial Multiple 17
410 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
411 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 15
412 c FML348 Familial Pityriasis Rubra Pilaris 14
413 c HYP545 Hypospadias 3, Autosomal 11
414 c PST093 Posterior Hypospadias 11
415 PLM134 Pulmonary Fibrosis, Idiopathic 73
416 P CNG001 Congenital Myasthenic Syndrome 66
417 c PRM005 Primary Hyperparathyroidism 60
418 c LYS021 Loeys-Dietz Syndrome 3 57
419 P LYS001 Loeys-Dietz Syndrome 57
420 c LYS019 Loeys-Dietz Syndrome 1 57
421 P SCK002 Sick Sinus Syndrome 53
422 c LYS017 Loeys-Dietz Syndrome 4 48
423 P OPT070 Optic Nerve Hypoplasia, Bilateral 48
424 c MYS051 Myasthenic Syndrome, Congenital, 5 47
425 P PLM025 Pulmonary Venoocclusive Disease 47
426 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 46
427 c LYS018 Loeys-Dietz Syndrome 2 44
428 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 44
429 LPM010 Lipomatosis, Multiple Symmetric 43
430 c MYS078 Myasthenic Syndrome, Congenital, 14 42
431 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
432 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 40
433 c MYS052 Myasthenic Syndrome, Congenital, 10 39
434 FML307 Familial Calcium Pyrophosphate Deposition 36
435 c MYS075 Myasthenic Syndrome, Congenital, 13 34
436 c MYS067 Myasthenic Syndrome, Congenital, 22 30
437 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 28
438 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 28
439 c LYS020 Loeys-Dietz Syndrome 5 27
440 c MYS076 Myasthenic Syndrome, Congenital, 8 26
441 c MYS056 Myasthenic Syndrome, Congenital, 17 25
442 c FML339 Familial Adenomatous Polyposis 4 25
443 VNT032 Ventricular Tachycardia, Familial 25
444 c MYS074 Myasthenic Syndrome, Congenital, 12 25
445 P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 25
446 c MYS064 Myasthenic Syndrome, Congenital, 16 25
447 c SCK017 Sick Sinus Syndrome 1 25
448 P HYD015 Hydroa Vacciniforme 24
449 c FML309 Familial Infantile Bilateral Striatal Necrosis 23
450 c MYS070 Myasthenic Syndrome, Congenital, 19 22
451 c MYS065 Myasthenic Syndrome, Congenital, 18 22
452 c MYS077 Myasthenic Syndrome, Congenital, 15 22
453 IMM099 Immunodeficiency 33 21
454 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 20
455 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 19
456 c SCK022 Sick Sinus Syndrome 3 18
457 OST150 Osteodysplasia, Familial, Anderson Type 17
458 c HYD016 Hydroa Vacciniforme, Familial 10
459 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 8
460 UMB003 Umbilicus, Familial Flat 7
461 SHL003 Shoulder Girdle Defect Mental Retardation Familial 3
462 c EXD008 Exudative Vitreoretinopathy 1 72
463 c LPM012 Lipomatosis, Multiple 65
464 P ERY058 Erythrocytosis, Familial, 1 60
465 P LPM005 Lipomatosis 53
466 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 50
467 c ERY048 Erythrocytosis, Familial, 2 50
468 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 47
469 PRX015 Paroxysmal Extreme Pain Disorder 46
470 DSM003 Desmoid Disease, Hereditary 46
471 FML036 Familial Periodic Paralysis 45
472 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 44
473 c STR085 Striatonigral Degeneration, Infantile 41
474 P STR001 Striatonigral Degeneration 38
475 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 35
476 c CHR630 Chorea, Benign Hereditary 35
477 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 35
478 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 31
479 c EPS039 Episodic Pain Syndrome, Familial, 1 31
480 c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 24
481 ESN023 Eosinophilia, Familial 23
482 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 21
483 c EPL150 Epilepsy, Familial Temporal Lobe, 7 20
484 c ERY032 Erythrocytosis, Familial, 4 18
485 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16
486 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13
487 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13
488 P DYS154 Dystonia 65
489 c ALZ049 Alzheimer Disease 2 60
490 P ANT006 Antiphospholipid Syndrome 60
491 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 60
492 P HYP097 Hyperekplexia 56
493 STT041 Stuttering 55
494 c DYS056 Dystonia 12 54
495 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
496 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
497 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 43
498 c EPL114 Epilepsy, Familial Temporal Lobe, 1 41
499 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 40
500 P WLL010 Woolly Hair Syndrome 39
501 c DYS119 Dystonia 9 38
502 INT304 Interstitial Pneumonitis, Desquamative, Familial 37
503 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 37
504 c ART071 Aortic Aneurysm, Familial Thoracic 6 34
505 CHR525 Chromosome Xq26.3 Duplication Syndrome 32
506 c DYS059 Dystonia 16 31
507 P FML313 Familial Progressive Hyperpigmentation 30
508 P PRD017 Periodic Paralyses 30
509 c DYS146 Dystonia 24 29
510 c TRM024 Tremor, Hereditary Essential, 1 28
511 c DYS162 Dystonia, Juvenile-Onset 27
512 c DYS145 Dystonia 23 27
513 c ANT041 Antiphospholipid Syndrome, Familial 26
514 c GZP005 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 24
515 c DYS151 Dystonia 25 24
516 c DYS172 Dystonia 27 23
517 c DYS138 Dystonia 21 22
518 c FML344 Familial Mediterranean Fever, Autosomal Dominant 22
519 c HYP510 Hyperekplexia 2 21
520 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 21
521 c HYP825 Hyperekplexia 4 21
522 c CND033 Candidiasis, Familial, 1 21
523 c EPL081 Epilepsy, Familial Temporal Lobe, 5 20
524 THY106 Thyroglossal Duct Cyst, Familial 20
525 c ERY031 Erythrocytosis, Familial, 3 20
526 c TRM020 Tremor, Hereditary Essential, 2 20
527 c FBR069 Febrile Seizures, Familial, 4 20
528 c HYP519 Hyperekplexia 3 19
529 c WLL035 Woolly Hair, Autosomal Recessive 3 18
530 c TRM022 Tremor, Hereditary Essential, 5 18
531 c EPL152 Epilepsy, Familial Temporal Lobe, 8 18
532 c WLL018 Woolly Hair, Autosomal Dominant 18
533 c TRM017 Tremor, Hereditary Essential, 4 18
534 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 17
535 c FML159 Familial Periodic Paralyses 17
536 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
537 P FML048 Familial Avascular Necrosis of the Femoral Head 16
538 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 16
539 P XNC004 X Inactivation, Familial Skewed, 1 14
540 c SPR097 Sporadic Hyperekplexia 13
541 c KMT002 Kmt2b-Related Dystonia 13
542 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 12
543 c TRM016 Tremor, Hereditary Essential, 3 11
544 MLT051 Multiple Fibrofolliculoma Familial 6
545 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
546 P HLP001 Holoprosencephaly 65
547 P AMY004 Amyloidosis 64
548 P OVR049 Ovarian Disease 63
549 P HYP370 Hypokalemic Periodic Paralysis, Type 1 60
550 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
551 P EPS003 Episodic Ataxia 59
552 c EPS042 Episodic Ataxia, Type 1 58
553 c EPS035 Episodic Ataxia, Type 2 57
554 c AMY009 Amyloidosis Aa 55
555 P FML035 Familial Hyperlipidemia 51
556 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
557 c HLP023 Holoprosencephaly 1 49
558 c HYP739 Hyperlipoproteinemia, Type Iv 49
559 c HRD039 Hereditary Amyloidosis 48
560 c ALZ050 Alzheimer Disease 5 47
561 c HYP396 Hypercholesterolemia, Autosomal Recessive 47
562 c HLP024 Holoprosencephaly 2 42
563 c HLP026 Holoprosencephaly 3 41
564 c HLP029 Holoprosencephaly 4 40
565 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 40
566 c EPS017 Episodic Ataxia, Type 6 39
567 P HYP733 Hypercalciuria, Absorptive, 2 37
568 APL017 Apolipoprotein C-Ii Deficiency 36
569 ASP026 Asplenia, Isolated Congenital 35
570 c HLP028 Holoprosencephaly 5 34
571 c HYP606 Hypokalemic Periodic Paralysis, Type 2 32
572 c EPS037 Episodic Ataxia, Type 4 31
573 c PRG020 Paragangliomas 3 30
574 c EPS015 Episodic Ataxia, Type 7 30
575 CRT039 Corticosterone Methyloxidase Type I Deficiency 29
576 c FML299 Familial Adenomatous Polyposis 3 28
577 c HLP025 Holoprosencephaly 9 27
578 c PRG019 Paragangliomas 2 27
579 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 26
580 P INT260 Intracranial Berry Aneurysm 25
581 FML206 Familial Cerebral Saccular Aneurysm 25
582 c SCK014 Sick Sinus Syndrome 2 25
583 c EPS014 Episodic Ataxia, Type 3 25
584 c HLP027 Holoprosencephaly 7 24
585 c HLP016 Holoprosencephaly 11 24
586 DCR009 Dicer1-Related Disorders 24
587 c EPS034 Episodic Ataxia, Type 5 23
588 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
589 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 22
590 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
591 c HLP022 Holoprosencephaly 8 21
592 LNT008 Lentiginosis, Inherited Patterned 20
593 c EPS033 Episodic Ataxia, Type 8 20
594 c PRM150 Primary Localized Amyloidosis 20
595 c CND027 Candidiasis, Familial, 3 17
596 c AHM002 Ah Amyloidosis 16
597 c NNS019 Nonsyndromic Holoprosencephaly 15
598 c FCL065 Facial Palsy, Familial Recurrent Peripheral 14
599 c HLP021 Holoprosencephaly 6 14
600 ADC005 Adcy5-Related Dyskinesia 14
601 GGN006 Gigantiform Cementoma, Familial 13
602 c SZR025 Seizures, Benign Familial Neonatal, 3 13
603 c HYP809 Hypercalciuria, Absorptive, 1 13
604 c FBR067 Febrile Seizures, Familial, 9 13
605 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 12
606 c ANR022 Aneurysm, Intracranial Berry, 4 12
607 c SZR011 Seizures, Benign Familial Infantile, 4 12
608 c ANR011 Aneurysm, Intracranial Berry, 2 11
609 c ANR028 Aneurysm, Intracranial Berry, 3 11
610 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
611 c FBR076 Febrile Seizures, Familial, 7 10
612 c ANR023 Aneurysm, Intracranial Berry, 7 10
613 c ANR029 Aneurysm, Intracranial Berry, 6 10
614 c ANR030 Aneurysm, Intracranial Berry, 8 10
615 c ANR024 Aneurysm, Intracranial Berry, 9 10
616 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 10
617 c ANR026 Aneurysm, Intracranial Berry, 5 10
618 c ANR025 Aneurysm, Intracranial Berry, 10 10
619 c ANR039 Aneurysm, Intracranial Berry, 11 10
620 P RCR003 Recurrent Peripheral Facial Palsy 9
621 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 8
622 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 7
623 THR043 Thrombomodulin Anomalies, Familial 6
624 FML088 Familial Streblodactyly 5
625 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
626 DSM004 Desmoid Tumor 60
627 c DYS165 Dysfibrinogenemia, Congenital 40
628 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
629 DYS140 Dyskinesia, Familial, with Facial Myokymia 30
630 DGT005 Digital Arthropathy-Brachydactyly, Familial 26
631 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 25
632 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
633 c EPS028 Episodic Pain Syndrome, Familial, 3 22
634 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 21
635 c ATR059 Atrial Fibrillation, Familial, 11 20
636 c ATR072 Atrial Fibrillation, Familial, 13 20
637 c ATR069 Atrial Fibrillation, Familial, 12 19
638 c ATR068 Atrial Fibrillation, Familial, 14 18
639 c ERY063 Erythrocytosis, Familial, 5 17
640 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 15
641 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
642 P PRK057 Parkinson Disease, Late-Onset 76
643 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60
644 c ESS001 Essential Tremor 59
645 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 56
646 P HYP076 Hyperthyroidism 55
647 P CRY007 Cryoglobulinemia, Familial Mixed 54
648 ATR002 Atransferrinemia 50
649 c ALZ054 Alzheimer Disease 4 50
650 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 48
651 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
652 P MRR011 Mirror Movements 1 47
653 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 46
654 FML330 Familial Lcat Deficiency 42
655 c ERL056 Early-Onset Parkinson's Disease 41
656 PRM237 Primary Hypomagnesemia 39
657 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 39
658 c PRK025 Parkinson Disease 10 39
659 c PRK085 Parkinson Disease 1, Autosomal Dominant 36
660 c TYP024 Type Ii Mixed Cryoglobulinemia 35
661 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 35
662 TST023 Testotoxicosis 35
663 P HYP078 Hypertrophy of Breast 35
664 c HRD173 Hereditary Late-Onset Parkinson Disease 33
665 c PRK093 Parkinson Disease 8, Autosomal Dominant 33
666 c PRK071 Parkinson Disease 14, Autosomal Recessive 31
667 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 31
668 NPP006 Nipples, Supernumerary 30
669 c PRK065 Parkinson Disease 20, Early-Onset 27
670 P TTH010 Tooth Agenesis, Selective, 1 26
671 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
672 c PSD093 Pseudohypoaldosteronism, Type Iid 25
673 c PRK099 Parkinson Disease 18, Autosomal Dominant 25
674 c PRK052 Parkinson Disease 17 24
675 CD8002 Cd8 Deficiency, Familial 24
676 P FML340 Familial Episodic Pain Syndrome 24
677 c TTH013 Tooth Agenesis, Selective, 4 24
678 c PRK070 Parkinson Disease 21 23
679 c PRK008 Parkinson Disease Type 9 23
680 c JVN058 Juvenile-Onset Parkinson's Disease 23
681 HYP344 Hyperthyroidism, Familial Gestational 23
682 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 23
683 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
684 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 22
685 GLC043 Glucocorticoid Deficiency 2 22
686 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 22
687 c ATR061 Atrial Fibrillation, Familial, 10 21
688 HYP279 Hypercholanemia, Familial 21
689 c ATR038 Atrial Fibrillation, Familial, 3 21
690 c ATR035 Atrial Fibrillation, Familial, 6 21
691 c TTH012 Tooth Agenesis, Selective, 3 21
692 c PRK094 Parkinson Disease 11, Autosomal Dominant 21
693 c PRK083 Parkinson Disease 22, Autosomal Dominant 20
694 c ART118 Aortic Aneurysm, Familial Thoracic 9 20
695 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
696 c CND031 Candidiasis, Familial, 9 19
697 c HYP678 Hypertrophy of the Breast, Juvenile 19
698 c ATR037 Atrial Fibrillation, Familial, 7 19
699 c ATR092 Atrial Fibrillation, Familial, 15 19
700 CLL041 Collagenoma, Familial Cutaneous 19
701 CRR016 Cirrhosis, Familial 19
702 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
703 c PRK098 Parkinson Disease 5, Autosomal Dominant 19
704 c ATR039 Atrial Fibrillation, Familial, 4 19
705 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 19
706 c ERY064 Erythrocytosis, Familial, 6 19
707 c PRK022 Parkinson Disease 12 19
708 c HYP708 Hyperaldosteronism, Familial, Type Iv 19
709 c PRK058 Parkinson Disease 16 18
710 c ART107 Aortic Aneurysm, Familial Thoracic 8 18
711 c LRR001 Lrrk2-Related Parkinson Disease 18
712 GZP006 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development 18
713 c MRR010 Mirror Movements 2 18
714 c ATR085 Atrial Fibrillation, Familial, 18 18
715 c ART133 Aortic Aneurysm, Familial Thoracic 11 17
716 c TTH011 Tooth Agenesis, Selective, 2 17
717 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
718 c TTH025 Tooth Agenesis, Selective, 9 16
719 c ATR070 Atrial Fibrillation, Familial, 9 16
720 c TTH027 Tooth Agenesis, Selective, 8 16
721 GLC053 Glucocorticoid Deficiency 3 16
722 c MRR012 Mirror Movements 3 15
723 c TTH026 Tooth Agenesis, Selective, 7 15
724 c MRR015 Mirror Movements 4 14
725 c TTH017 Tooth Agenesis, Selective, 5 14
726 ABS007 Absent Patella 13
727 c MXD037 Mixed Cryoglobulinemia Type Iii 12
728 c HYP333 Hyperlipidemia, Combined, 2 12
729 c XNC002 X Inactivation, Familial Skewed, 2 10
730 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
731 c VPS003 Vps35-Related Parkinson Disease 6
732 FML160 Familial Spastic Paralysis 6
733 c SYS001 Systemic Lupus Erythematosus 88
734 c CHR089 Chronic Kidney Failure 73
735 P KDN018 Kidney Disease 71
736 P PLM036 Pulmonary Fibrosis 70
737 P LPS004 Lupus Erythematosus 69
738 c ART115 Aortic Valve Disease 1 69
739 c MGR028 Migraine with or Without Aura 1 69
740 c WLM013 Wilms Tumor 1 68
741 c MLT160 Multiple Endocrine Neoplasia, Type Iia 66
742 c WLM018 Wilms Tumor 5 64
743 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
744 c ART101 Aortic Valve Disease 2 63
745 HYP020 Hyperprolactinemia 63
746 P MYS005 Myositis 61
747 P HMN010 Hemangioma 61
748 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
749 P KDN017 Kidney Cancer 59
750 c VSC019 Vesicoureteral Reflux 1 58
751 GLB001 Gilbert Syndrome 57
752 c HYD046 Hydatidiform Mole, Recurrent, 1 57
753 P MLT074 Multiple Endocrine Neoplasia 56
754 P PMP005 Pemphigus Vulgaris 54
755 c MLT086 Multiple Endocrine Neoplasia, Type Iv 54
756 c ACT071 Acute Kidney Failure 54
757 P INT099 Intrahepatic Cholestasis of Pregnancy 53
758 P OTS001 Otosclerosis 53
759 c CNG012 Congenital Generalized Lipodystrophy 52
760 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
761 PRP007 Priapism 51
762 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
763 P ART018 Aortic Valve Insufficiency 49
764 KLN009 Kleine-Levin Hibernation Syndrome 49
765 P MGR001 Migraine Without Aura 48
766 HRT015 Heritable Pulmonary Arterial Hypertension 48
767 ACH015 Achalasia, Familial Esophageal 48
768 PSD021 Pseudovaginal Perineoscrotal Hypospadias 48
769 P DYS026 Dysfibrinogenemia 47
770 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 47
771 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 46
772 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 43
773 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 43
774 c PMP006 Pemphigus Vulgaris, Familial 41
775 BNG018 Benign Paroxysmal Positional Nystagmus 40
776 c WLM011 Wilms Tumor 6 40
777 P MYG005 Myoglobinuria 40
778 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 39
779 ALV006 Alveolar Capillary Dysplasia 39
780 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 39
781 c FML297 Familial Thyroid Dyshormonogenesis 39
782 DSQ001 Desquamative Interstitial Pneumonia 38
783 P HRD009 Hereditary Wilms' Tumor 38
784 c MYG007 Myoglobinuria, Recurrent 38
785 FBR089 Fibrosclerosis, Multifocal 37
786 FML304 Familial Isolated Dilated Cardiomyopathy 35
787 c SYS061 Systemic Lupus Erythematosus 16 35
788 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 34
789 c SYS043 Systemic Lupus Erythematosus 1 34
790 SHR108 Short Stature, Idiopathic, X-Linked 34
791 c CRN236 Corneal Dystrophy, Lattice Type I 33
792 LPS020 Lipase Deficiency, Combined 33
793 HYP249 Hyperthyroidism, Nonautoimmune 32
794 c PRV019 Periventricular Nodular Heterotopia 1 32
795 P PRX010 Paroxysmal Ventricular Fibrillation 32
796 P THY061 Thyroid Dyshormonogenesis 2a 32
797 ATX019 Ataxia with Vitamin E Deficiency 32
798 c PRP091 Porphyria Cutanea Tarda, Type I 32
799 P LTT001 Lattice Corneal Dystrophy 31
800 P FML284 Familial Vesicoureteral Reflux 31
801 c PSD090 Pseudohypoaldosteronism, Type Iia 31
802 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
803 c HYP699 Hyperekplexia 1 29
804 c FML269 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 28
805 c THY071 Thyroid Dyshormonogenesis 1 28
806 c MLG144 Malignant Hemangioma 28
807 c FML272 Familial Sick Sinus Syndrome 27
808 c ALZ012 Alzheimer Disease 12 27
809 c ALZ016 Alzheimer Disease 8 26
810 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 26
811 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 26
812 c FML324 Familial Porphyria Cutanea Tarda 26
813 CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 26
814 c THY056 Thyroid Dyshormonogenesis 3 26
815 HYP677 Hyperthyroxinemia, Familial Dysalbuminemic 25
816 c EPL113 Epilepsy, Familial Temporal Lobe, 4 25
817 FLR007 Failure of Tooth Eruption, Primary 25
818 c THY063 Thyroid Dyshormonogenesis 4 25
819 HRD207 Hereditary Transthyretin Amyloidosis 25
820 CRT040 Corticosterone Methyloxidase Type Ii Deficiency 25
821 EDC001 Edict Syndrome 24
822 c CRN160 Corneal Dystrophy, Lattice Type Iiia 24
823 CLL039 Collagenosis, Familial Reactive Perforating 23
824 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
825 c LTT008 Lattice Corneal Dystrophy Type Ii 23
826 c HYP819 Hyperlipoproteinemia, Type Id 23
827 c FBR073 Febrile Seizures, Familial, 1 23
828 VLV047 Volvulus of Midgut 23
829 c ALZ057 Alzheimer Disease 10 22
830 c ALZ053 Alzheimer Disease 7 22
831 c OTS005 Otosclerosis 1 22
832 c PRV018 Periventricular Nodular Heterotopia 7 22
833 c WLM005 Wilms Tumor 2 22
834 FCT029 Factor V and Factor Viii, Combined Deficiency of, 1 21
835 c HYD041 Hydatidiform Mole, Recurrent, 2 21
836 FML293 Familial Isolated Restrictive Cardiomyopathy 21
837 c PRV016 Periventricular Nodular Heterotopia 6 21
838 P RCR026 Recurrent Hydatidiform Mole 21
839 c SYS040 Systemic Lupus Erythematosus 10 20
840 c SYS038 Systemic Lupus Erythematosus 2 20
841 RHZ008 Rhizomelic Syndrome 20
842 CLV014 Calvarial Doughnut Lesions with Bone Fragility 20
843 c THY110 Thyroid Dyshormonogenesis 6 20
844 c PRV021 Periventricular Nodular Heterotopia 8 20
845 c WLM017 Wilms Tumor 4 19
846 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 19
847 c ACQ004 Acquired Hemangioma 19
848 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 19
849 c VSC025 Vesicoureteral Reflux 3 18
850 c THY062 Thyroid Dyshormonogenesis 5 18
851 c VSC046 Vesicoureteral Reflux 8 18
852 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
853 c MGR036 Migraine with or Without Aura 2 18
854 c FBR075 Febrile Seizures, Familial, 2 17
855 c SYS069 Systemic Lupus Erythematosus 6 17
856 c SYS053 Systemic Lupus Erythematosus 5 17
857 c SYS065 Systemic Lupus Erythematosus 11 17
858 c OTS012 Otosclerosis 10 16
859 c MYG006 Myoglobinuria, Autosomal Dominant 16
860 c MGR023 Migraine Without Aura 4 16
861 c OTS007 Otosclerosis 3 16
862 c PLM044 Pulmonary Fibrosis, Familial 16
863 c MGR024 Migraine with or Without Aura 5 16
864 FML325 Familial Cervical Artery Dissection 16
865 c MGR038 Migraine with or Without Aura 10 16
866 c SYS041 Systemic Lupus Erythematosus 9 16
867 c VSC020 Vesicoureteral Reflux 2 16
868 c WLM015 Wilms Tumor 3 16
869 c EPL124 Epilepsy, Familial Temporal Lobe, 6 15
870 ANG063 Angiolipomatosis, Familial 15
871 c OTS006 Otosclerosis 2 15
872 c SYS046 Systemic Lupus Erythematosus 3 15
873 c MGR040 Migraine with or Without Aura 12 15
874 c FBR074 Febrile Seizures, Familial, 6 15
875 c OTS010 Otosclerosis 7 15
876 P SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 15
877 c OTS011 Otosclerosis 8 14
878 c FBR068 Febrile Seizures, Familial, 10 14
879 c SYS055 Systemic Lupus Erythematosus 12 14
880 c MGR022 Migraine with or Without Aura 3 14
881 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 14
882 c FBR071 Febrile Seizures, Familial, 5 14
883 c MGR042 Migraine with or Without Aura 13 14
884 c OTS008 Otosclerosis 4 14
885 c SYS051 Systemic Lupus Erythematosus 4 14
886 c SYS047 Systemic Lupus Erythematosus 7 14
887 c MGR039 Migraine with or Without Aura 11 14
888 c BCT018 Bacterial Myositis 14
889 c PRV013 Periventricular Nodular Heterotopia 3 13
890 c VRL025 Viral Myositis 13
891 c OTS009 Otosclerosis 5 13
892 CMD004 Comedones, Familial Dyskeratotic 12
893 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 12
894 c VSC043 Vesicoureteral Reflux 6 12
895 ERY057 Erythema Nodosum, Familial 12
896 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 12
897 c ART151 Aortic Aneurysm, Familial Abdominal, 2 12
898 c SYS052 Systemic Lupus Erythematosus 13 12
899 c SYS045 Systemic Lupus Erythematosus 14 12
900 c SYS048 Systemic Lupus Erythematosus 8 12
901 c SYS067 Systemic Lupus Erythematosus 15 12
902 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 12
903 TNG006 Tunglang Savage Bellman Syndrome 12
904 c RNL016 Renal Infectious Disease 11
905 c VSC042 Vesicoureteral Reflux 5 11
906 c MGR037 Migraine with or Without Aura 8 11
907 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
908 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 10
909 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 10
910 c VSC040 Vesicoureteral Reflux 4 10
911 c VSC041 Vesicoureteral Reflux 7 10
912 c RNR002 Ren-Related Kidney Disease 10
913 c CNG346 Congenital Aortic Valve Insufficiency 10
914 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 9
915 c ADV008 Advanced Sleep Phase Syndrome 2 9
916 NGY001 Nguyen Syndrome 9
917 IMM016 Immune Deficiency, Familial Variable 9
918 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 9
919 c HYD067 Hydatidiform Mole, Recurrent, 3 9
920 c HYD068 Hydatidiform Mole, Recurrent, 4 9
921 NFK002 Nf-Kappa B Essential Modulator Deficiency 9
922 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 9
923 P STT036 Stuttering, Familial Persistent, 3 8
924 c STT039 Stuttering, Familial Persistent, 4 8
925 c KDN012 Kidney Carcinoma in Situ 8
926 c LCL003 Localized Pulmonary Fibrosis 7
927 FML329 Familial Caudal Dysgenesis 6
928 c OTS004 Otosclerosis, Familial 6
929 c FML158 Familial Hemangioma 6
930 c RNL033 Renal Carcinoma, Familial 5
931 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
932 c MYG002 Myoglobinuria Dominant Form 5
933 c OVR071 Ovarian Insufficiency, Familial 4
934 c SZR003 Seizures Benign Familial Neonatal Recessive Form 3
935 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
936 HYP197 Hypofibrinogenemia, Familial 3
937 FML082 Familial Partial Paralysis 3
938 NPH022 Nephropathy Familial with Hyperuricemia 2
939 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 2
940 EPL014 Epilepsy, Partial, Familial 2
941 PLM055 Pulmonary Artery Familial Dilatation 2
942 DST014 Distal Primary Acidosis, Familial 2
943 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 2
944 NSL012 Nasal Polyposis, Familial 2
945 PLM063 Pulmonary Hypoplasia Familial Primary 2
946 RGH002 Right Atrium Familial Dilatation 2
947 P HYP750 Hypertriglyceridemia, Familial 58
948 ACT164 Actinic Prurigo 49
949 c HYP555 Hypertriglyceridemia, Transient Infantile 34
950 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
951 c EPL187 Epilepsy, Familial Focal, with Variable Foci 2 19
952 c EPL192 Epilepsy, Familial Focal, with Variable Foci 3 19
953 c EPS027 Episodic Pain Syndrome, Familial, 2 17
954 UPN001 Upington Disease 16
955 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 16
956 P GLL022 Guillain-Barre Syndrome 66
957 P LNG028 Long Qt Syndrome 66
958 c LNG044 Long Qt Syndrome 1 64
959 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 62
960 P BRG001 Brugada Syndrome 61
961 c LNG047 Long Qt Syndrome 2 56
962 HYP052 Hyperkalemic Periodic Paralysis 54
963 P PRC019 Precocious Puberty 52
964 CYC008 Cyclic Vomiting Syndrome 52
965 c CNT075 Central Precocious Puberty 52
966 P ACQ022 Acquired Generalized Lipodystrophy 51
967 c LNG048 Long Qt Syndrome 3 50
968 MTY001 Mutyh-Associated Polyposis 49
969 c BRG005 Brugada Syndrome 1 45
970 c LNG050 Long Qt Syndrome 5 44
971 c LNG051 Long Qt Syndrome 6 43
972 LCR013 Lacrimal Duct Defect 41
973 c LNG053 Long Qt Syndrome 9 41
974 c LNG057 Long Qt Syndrome 13 40
975 c GLL037 Guillain-Barre Syndrome, Familial 39
976 c LNG096 Long Qt Syndrome 15 38
977 P VRT013 Vertigo, Benign Recurrent 37
978 c LNG056 Long Qt Syndrome 12 35
979 FML091 Familial Tumoral Calcinosis 33
980 ATS009 Autosomal Genetic Disease 33
981 PPL052 Papillomatosis, Confluent and Reticulated 33
982 c BRG007 Brugada Syndrome 5 31
983 c ERY065 Erythrocytosis, Familial, 7 31
984 CNG064 Congenital Chloride Diarrhea 31
985 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 28
986 c LNG098 Long Qt Syndrome 14 27
987 c BRG006 Brugada Syndrome 2 25
988 c ART134 Aortic Aneurysm, Familial Thoracic 10 23
989 c PRC047 Precocious Puberty, Central, 1 23
990 c BRG012 Brugada Syndrome 9 22
991 c LNG045 Long Qt Syndrome 10 22
992 c BRG009 Brugada Syndrome 7 21
993 c PRC046 Precocious Puberty, Central, 2 21
994 P XLN230 X-Linked Monogenic Disease 20
995 c EPL220 Epilepsy, Familial Focal, with Variable Foci 4 20
996 FLR003 Florid Cemento-Osseous Dysplasia 20
997 c BRG003 Brugada Syndrome 3 19
998 c BRG010 Brugada Syndrome 8 19
999 ANR043 Aniridia and Absent Patella 19
1000 c BRG004 Brugada Syndrome 4 18
1001 c LNG046 Long Qt Syndrome 11 18
1002 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 17
1003 c BRG008 Brugada Syndrome 6 17
1004 HRS037 Hirschsprung Disease with Type D Brachydactyly 17
1005 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 15
1006 c HYP563 Hyperpigmentation, Familial Progressive, 1 14
1007 VST008 Vestibulocochlear Dysfunction, Progressive 14
1008 c SCN039 Secondary Central Precocious Puberty 9
1009 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 7
1010 c VRT008 Vertigo, Benign Recurrent, 2 7
1011 c YLN002 Y-Linked Monogenic Disease 3
1012 c HYP595 Hypertension, Essential 81
1013 P RTN024 Retinoblastoma 72
1014 c THR092 Thrombophilia Due to Thrombin Defect 69
1015 OVR029 Ovarian Hyperstimulation Syndrome 64
1016 P KLL001 Kallmann Syndrome 63
1017 c THR082 Thrombophilia Due to Activated Protein C Resistance 61
1018 P PTN014 Patent Ductus Arteriosus 1 61
1019 WLF001 Wolff-Parkinson-White Syndrome 61
1020 c SPN294 Spinocerebellar Ataxia 1 59
1021 P SPN301 Spinocerebellar Ataxia 2 59
1022 P LCH002 Lichen Planus 58
1023 P HYP083 Hypopituitarism 58
1024 P SHR029 Short Syndrome 57
1025 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1026 P THR015 Thrombophilia 56
1027 P ACT008 Actinic Keratosis 55
1028 P LFT003 Left Ventricular Noncompaction 55
1029 TTH002 Tooth Agenesis 54
1030 MLT163 Multiple Pterygium Syndrome, Escobar Variant 54
1031 P NLD001 Nail Disease 54
1032 HYP732 Hyperalphalipoproteinemia 1 53
1033 P OBS001 Obstructive Jaundice 53
1034 P DPY001 Dupuytren Contracture 53
1035 IDP024 Idiopathic Inflammatory Myopathy 52
1036 c SPN314 Spinocerebellar Ataxia 10 51
1037 c SPN293 Spinocerebellar Ataxia 12 51
1038 DYS022 Dyschromatosis Symmetrica Hereditaria 51
1039 P BND018 Band Heterotopia 50
1040 P RNL017 Renal Oncocytoma 50
1041 MCL027 Macular Dystrophy, Dominant Cystoid 50
1042 P ISL078 Isolated Ectopia Lentis 50
1043 c MLG069 Malignant Hypertension 50
1044 c SPN309 Spinocerebellar Ataxia 6 49
1045 BNG009 Benign Epilepsy with Centrotemporal Spikes 49
1046 c SPN296 Spinocerebellar Ataxia 17 48
1047 c SPN312 Spinocerebellar Ataxia 14 48
1048 HMZ003 Homozygous Familial Hypercholesterolemia 48
1049 P KRT005 Keratoacanthoma 48
1050 P ERY008 Erythromelalgia 48
1051 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
1052 c OPT051 Opitz Gbbb Syndrome, Type I 47
1053 c SPN100 Spinocerebellar Ataxia 27 46
1054 c SPN311 Spinocerebellar Ataxia 13 46
1055 c SPN097 Spinocerebellar Ataxia 23 45
1056 P CLS010 Cluster Headache 45
1057 P HRD086 Hereditary Hypophosphatemic Rickets 45
1058 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
1059 c SHR030 Short Qt Syndrome 44
1060 c SPN103 Spinocerebellar Ataxia 31 44
1061 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1062 c SPN308 Spinocerebellar Ataxia 28 44
1063 P ANT088 Anterior Segment Dysgenesis 43
1064 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 43
1065 c ANT077 Anterior Segment Dysgenesis 1 43
1066 P HMF004 Hemifacial Spasm 43
1067 P ORF002 Orofacial Cleft 43
1068 c SPN290 Spinocerebellar Ataxia 15 43
1069 c SPN305 Spinocerebellar Ataxia 11 42
1070 P FML187 Familial Hypertension 42
1071 c SPN265 Spinocerebellar Ataxia 36 42
1072 c CHL140 Chilblain Lupus 1 42
1073 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 42
1074 P OPT048 Opitz-Gbbb Syndrome 42
1075 c SPN283 Spinocerebellar Ataxia 37 41
1076 c SPN304 Spinocerebellar Ataxia 8 41
1077 c SPN106 Spinocerebellar Ataxia 5 41
1078 c CLR085 Colorectal Cancer 1 40
1079 P HYP120 Hypoaldosteronism 40
1080 DFF021 Diffuse Mesangial Sclerosis 40
1081 c ALZ063 Alzheimer's Disease 1 40
1082 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
1083 c ANT086 Anterior Segment Dysgenesis 2 39
1084 NND010 Nondisjunction 39
1085 c ANT071 Anterior Segment Dysgenesis 4 39
1086 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
1087 PDT014 Pediatric Ependymoma 38
1088 SPN354 Spinal Arachnoiditis 38
1089 c FML311 Familial Colorectal Cancer Type X 38
1090 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1091 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
1092 TRN030 Transient Erythroblastopenia of Childhood 37
1093 c MNS014 Monosomy 22 37
1094 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
1095 c SPN094 Spinocerebellar Ataxia 18 37
1096 BRR012 Berardinelli-Seip Congenital Lipodystrophy 36
1097 VRT007 Vertical Talus, Congenital 36
1098 c SPR083 Sporadic Hemiplegic Migraine 36
1099 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
1100 c SPN101 Spinocerebellar Ataxia 29 35
1101 c SPN299 Spinocerebellar Ataxia 20 35
1102 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1103 c SPN095 Spinocerebellar Ataxia 19 35
1104 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
1105 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 35
1106 c SPN247 Spinocerebellar Ataxia Type 19/22 34
1107 c FML008 Familial Retinoblastoma 34
1108 c FML294 Familial Short Qt Syndrome 34
1109 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 34
1110 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
1111 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
1112 c SPN266 Spinocerebellar Ataxia 35 34
1113 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
1114 c SPN096 Spinocerebellar Ataxia 21 33
1115 P GLM006 Glomangioma 33
1116 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
1117 c SPN105 Spinocerebellar Ataxia 4 33
1118 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
1119 c SPN099 Spinocerebellar Ataxia 26 33
1120 c HRD198 Hereditary Dystonia 32
1121 c SPN383 Spinocerebellar Ataxia 42 32
1122 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
1123 c ART068 Aortic Aneurysm, Familial Thoracic 2 31
1124 c SPS091 Spastic Paraplegia 4 31
1125 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 31
1126 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 31
1127 c SPN284 Spinocerebellar Ataxia 38 31
1128 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
1129 c CLR077 Colorectal Cancer 10 30
1130 P ACT232 Acute Necrotizing Encephalopathy 30
1131 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
1132 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
1133 c ATS270 Autosomal Dominant Café Au Lait Spots 30
1134 c SPN098 Spinocerebellar Ataxia 25 30
1135 5LP001 5-Alpha Reductase Deficiency 30
1136 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1137 c LFT021 Left Ventricular Noncompaction 1 30
1138 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
1139 P CRY006 Cryofibrinogenemia 29
1140 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1141 c ANT084 Anterior Segment Dysgenesis 3 29
1142 c MLG039 Malignant Essential Hypertension 29
1143 FML292 Familial Drusen 29
1144 IDP085 Idiopathic Infantile Hypercalcemia 28
1145 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
1146 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1147 c CLR080 Colorectal Cancer 5 28
1148 c SPN286 Spinocerebellar Ataxia 40 28
1149 c ANT083 Anterior Segment Dysgenesis 7 28
1150 c FML306 Familial or Sporadic Hemiplegic Migraine 27
1151 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 27
1152 c SPN372 Spinocerebellar Ataxia 43 27
1153 CSN001 Cousin Syndrome 27
1154 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 27
1155 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
1156 c ORF027 Orofacial Cleft 11 27
1157 c ORF048 Orofacial Cleft 1 27
1158 c BNG021 Benign Essential Hypertension 26
1159 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1160 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
1161 c PRK091 Parkinson Disease 4, Autosomal Dominant 26
1162 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 26
1163 HYP782 Hypoglycemia, Leucine-Induced 26
1164 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1165 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 25
1166 LPM007 Lipomyelomeningocele 25
1167 c SPN418 Spinocerebellar Ataxia 44 25
1168 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
1169 c HYP311 Hyperparathyroidism 3 25
1170 c SPN420 Spinocerebellar Ataxia 46 25
1171 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
1172 c MLG080 Malignant Secondary Hypertension 25
1173 c SPS041 Spastic Paraplegia 6 25
1174 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
1175 c SPN421 Spinocerebellar Ataxia 47 25
1176 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1177 c SPN102 Spinocerebellar Ataxia 30 24
1178 ACR034 Acrogeria, Gottron Type 24
1179 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
1180 c SHR032 Short Qt Syndrome 2 24
1181 c CLR087 Colorectal Cancer 12 24
1182 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
1183 c ANT085 Anterior Segment Dysgenesis 5 24
1184 c SHR031 Short Qt Syndrome 1 24
1185 c SPN323 Spinocerebellar Ataxia 41 24
1186 P FML305 Familial Abdominal Aortic Aneurysm 24
1187 c SPN427 Spinocerebellar Ataxia 48 24
1188 c HMF011 Hemifacial Spasm, Familial 24
1189 c FML223 Familial Keratoacanthoma 23
1190 P CFL005 Cafe-Au-Lait Spots, Multiple 23
1191 AMN009 Amniotic Band Syndrome 23
1192 c SPN259 Spinocerebellar Ataxia 32 23
1193 c MNS008 Monosomy 21 23
1194 c FML258 Familial Acute Necrotizing Encephalopathy 23
1195 c ORF028 Orofacial Cleft 10 23
1196 PTR030 Pterygium of Conjunctiva and Cornea 22
1197 c SPN419 Spinocerebellar Ataxia 45 22
1198 c HYP163 Hyperlipidemia Type 3 22
1199 c HYP376 Hypouricemia, Renal, 2 22
1200 P FML337 Familial Chilblain Lupus 22
1201 DRM041 Dermoid Cysts, Familial Frontonasal 22
1202 c LFT017 Left Ventricular Noncompaction 8 22
1203 c SPN107 Spinocerebellar Ataxia 9 22
1204 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 22
1205 P MNS011 Monosomy 9q22.3 21
1206 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
1207 c SHR033 Short Qt Syndrome 3 21
1208 c ERY067 Erythrocytosis, Familial, 8 21
1209 c LFT018 Left Ventricular Noncompaction 10 21
1210 c SCN048 Secondary Syringomyelia 21
1211 c CLR075 Colorectal Cancer 3 21
1212 c GNS004 Geniospasm 1 20
1213 c CHL114 Chilblain Lupus 2 20
1214 c ATR026 Atrial Fibrillation, Familial, 1 20
1215 LRY046 Laryngeal Web, Familial 20
1216 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 20
1217 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
1218 c ORF050 Orofacial Cleft 2 20
1219 c FLN007 Flna-Related Periventricular Nodular Heterotopia 20
1220 c ORF049 Orofacial Cleft 3 20
1221 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
1222 c CLR079 Colorectal Cancer 2 20
1223 P CNG070 Congenital Dislocation of the Patella 19
1224 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
1225 HYP187 Hypertryptophanemia 19
1226 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1227 c THR023 Thrombophilia Due to Thrombomodulin Defect 19
1228 c ORF047 Orofacial Cleft 15 19
1229 CRT064 Corticosterone Methyloxidase Deficiency 19
1230 c GLM014 Glomerulopathy with Fibronectin Deposits 1 18
1231 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 18
1232 c ANT067 Anterior Segment Dysgenesis 8 18
1233 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 18
1234 c FML028 Familial Renal Oncocytoma 18
1235 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
1236 c ORF014 Orofacial Cleft 5 17
1237 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 17
1238 RTN078 Retinoschisis of Fovea 17
1239 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 17
1240 WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 17
1241 c ANT087 Anterior Segment Dysgenesis 6 17
1242 SPS047 Spastic Paraplegia with Precocious Puberty 17
1243 MND005 Mondini Dysplasia 17
1244 c ANR027 Aneurysm, Intracranial Berry, 1 17
1245 c ACT229 Acute Necrotizing Encephalopathy Type 1 17
1246 c ORF031 Orofacial Cleft 14 17
1247 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 16
1248 c LFT020 Left Ventricular Noncompaction 7 16
1249 ZNC006 Zinc, Elevated Plasma 16
1250 c PRT045 Prothrombin-Related Thrombophilia 16
1251 c ALZ058 Alzheimer Disease 11 16
1252 c PTN012 Patent Ductus Arteriosus 3 16
1253 HND005 Hand and Foot Deformity with Flat Facies 16
1254 c PTN013 Patent Ductus Arteriosus 2 16
1255 c MGR033 Migraine with or Without Aura 6 16
1256 FLT007 Flotch Syndrome 16
1257 c ORF020 Orofacial Cleft 12 16
1258 c ORF016 Orofacial Cleft 8 16
1259 c ORF023 Orofacial Cleft 4 15
1260 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 15
1261 c ORF025 Orofacial Cleft 6 15
1262 c CLS053 Cluster Headache, Familial 14
1263 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 14
1264 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 14
1265 c CLR083 Colorectal Cancer 8 14
1266 c ATR027 Atrial Fibrillation, Familial, 5 14
1267 c CLR082 Colorectal Cancer 7 14
1268 c CLR081 Colorectal Cancer 6 14
1269 PRP095 Priapism, Familial Idiopathic 14
1270 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 13
1271 c ATR025 Atrial Fibrillation, Familial, 2 13
1272 CHR648 Chorea, Remitting, with Nystagmus and Cataract 13
1273 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 13
1274 c ORF029 Orofacial Cleft 13 13
1275 c ORF024 Orofacial Cleft 9 13
1276 c LFT011 Left Ventricular Noncompaction 2 13
1277 c KLL008 Kallmann Syndrome 6 13
1278 c ATR028 Atrial Fibrillation, Familial, 8 13
1279 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 12
1280 c SCN066 Secondary Erythromelalgia 12
1281 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 12
1282 P HRD194 Hereditary Geniospasm 12
1283 PLM045 Palmer Pagon Syndrome 12
1284 c FML275 Familial Hypoaldosteronism 12
1285 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
1286 c LCH017 Lichen Planus, Familial 12
1287 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
1288 c CLR084 Colorectal Cancer 9 11
1289 c CLR078 Colorectal Cancer 11 11
1290 c KLL005 Kallmann Syndrome 3 11
1291 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 11
1292 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 11
1293 c HYP452 Hypertension, Essential 6 11
1294 ECT009 Ectopia Pupillae 11
1295 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 11
1296 P CHR636 Chorea, Benign Familial 11
1297 c PRM168 Primary Syringomyelia 11
1298 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
1299 c HYP449 Hypertension, Essential 3 11
1300 c HYP450 Hypertension, Essential 4 11
1301 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 11
1302 FML202 Familial Alzheimer-Like Prion Disease 11
1303 c KRT070 Keratosis, Familial Actinic 10
1304 c HYP451 Hypertension, Essential 5 10
1305 c FML255 Familial Syringomyelia 10
1306 c MYC090 Myoclonus, Familial, 2 10
1307 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
1308 CMP022 Camptodactyly Taurinuria 10
1309 TTR009 Tetralogy of Fallot and Glaucoma 10
1310 c KLL007 Kallmann Syndrome 5 10
1311 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 10
1312 EPL008 Epilepsy Occipital Calcifications 10
1313 c HYP448 Hypertension, Essential 2 10
1314 c HYP453 Hypertension, Essential 7 10
1315 c HYP454 Hypertension, Essential 8 10
1316 c HYP447 Hypertension, Essential 1 10
1317 c FML025 Familial Glomangioma 10
1318 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
1319 CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 10
1320 FML079 Familial Nasal Acilia 10
1321 CHR631 Choreoathetosis, Familial Inverted 10
1322 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 10
1323 FML336 Familial Patent Arterial Duct 10
1324 c MRL006 Meralgia Paraesthetica, Familial 10
1325 EDM003 Edema, Familial Idiopathic, Prepubertal 9
1326 OPH016 Ophthalmoplegia, Familial Static 9
1327 c KLL006 Kallmann Syndrome 4 9
1328 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 9
1329 CRD227 Cardiac Lipidosis, Familial 9
1330 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1331 P FML050 Familial Bilateral Striatal Necrosis 9
1332 c PTL011 Patella, Familial Recurrent Dislocation of 9
1333 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1334 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
1335 HST021 Histiocytosis, Familial Lipochrome 9
1336 CNC019 Cancer, Familial, with in Vitro Radioresistance 9
1337 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 9
1338 ALP096 Alopecia, Familial Focal 9
1339 c CRY033 Cryofibrinogenemia, Familial Primary 8
1340 LGL002 Leg Ulcers, Familial, of Juvenile Onset 8
1341 c FML072 Familial Hypopituitarism 8
1342 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 8
1343 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
1344 LMB070 Lumbar Stenosis, Familial 8
1345 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 7
1346 MSC143 Muscle Cramps, Familial 7
1347 STT047 Setting-Sun Phenomenon, Familial Benign 7
1348 c FML094 Familial Wilms Tumor 2 7
1349 MLN068 Melanoma, Malignant Familial Intraocular 7
1350 c JND003 Jaundice, Familial Obstructive, of Infancy 7
1351 c BNG034 Benign Secondary Hypertension 7
1352 NSL026 Nasal Hyperpigmentation, Familial Transverse 7
1353 STR098 Striae Distensae, Familial 7
1354 AZT005 Azotemia, Familial 7
1355 MCR339 Macrocytosis, Familial 7
1356 NSL025 Nasal Groove, Familial Transverse 7
1357 MCG001 Mcgillivray Syndrome 6
1358 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1359 PCH021 Pachydermodactyly, Familial 6
1360 INS028 Insulin Receptors, Familial Increase in 6
1361 MYK001 Myokymia with Neonatal Epilepsy 6
1362 URT053 Urticaria, Familial Localized Heat 6
1363 CRM011 Cramps, Familial Adolescent 6
1364 BND019 Bundle Branch Block, Familial Isolated Complete Right 6
1365 FVR001 Fever, Familial Lifelong Persistent 6
1366 BRD052 Broad Terminal Phalanges, Familial 6
1367 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 6
1368 CRY034 Cryptotia, Familial 6
1369 BLN022 Blue Nevi, Familial Multiple 6
1370 OST166 Osteoma of Cranial Vault, Familial 6
1371 c RRL001 Rare Lichen Planus 6
1372 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 6
1373 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 6
1374 PNC125 Pancreatic Lymphoma, Familial 6
1375 BDH001 Boudhina Yedes Khiari Syndrome 5
1376 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1377 ZRS001 Zori Stalker Williams Syndrome 5
1378 c FML317 Familial Monosomy 7 Syndrome 5
1379 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 5
1380 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 5
1381 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1382 ALS004 Alsing Syndrome 5
1383 FML216 Familial Isolated Clinodactyly of Fingers 4
1384 c FML049 Familial Band Heterotopia 4
1385 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
1386 BRC118 Brachial Palsy, Familial Congenital 4
1387 FRC004 Fara Chlupackova Syndrome 4
1388 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
1389 RGN002 Reginato Shiapachasse Syndrome 4
1390 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
1391 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 3
1392 c SCN010 Scn9a-Related Inherited Erythromelalgia 3
1393 c FML226 Familial Dupuytren Contracture 3
1394 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
1395 STL002 Stalker Chitayat Syndrome 3
1396 FML349 Familial Creutzfeld-Jakob Disease 3
1397 FML074 Familial Interstitial Fibrosis 2
1398 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 2
1399 P PRS040 Prostate Cancer 93
1400 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 92
1401 MYL069 Myeloma, Multiple 85
1402 P ATX030 Ataxia-Telangiectasia 82
1403 CYS001 Cystic Fibrosis 82
1404 ESP021 Esophageal Cancer 82
1405 SQM013 Squamous Cell Carcinoma, Head and Neck 82
1406 c LKM061 Leukemia, Acute Myeloid 81
1407 P FNC027 Fanconi Anemia, Complementation Group a 81
1408 PFF001 Pfeiffer Syndrome 80
1409 NRL016 Neural Tube Defects 79
1410 P NNN008 Noonan Syndrome 1 78
1411 KPS004 Kaposi Sarcoma 77
1412 P SRC025 Sarcoidosis 1 76
1413 PLY001 Polycythemia Vera 75
1414 P NRF023 Neurofibromatosis, Type Ii 75
1415 P MLT020 Multiple Sclerosis 75
1416 MRF001 Marfan Syndrome 75
1417 c HMC039 Hemochromatosis, Type 1 74
1418 PHN003 Phenylketonuria 74
1419 NRF026 Neurofibromatosis, Type Iv, of Riccardi 74
1420 APL001 Aplastic Anemia 74
1421 c LKM063 Leukemia, Chronic Myeloid 73
1422 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
1423 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 72
1424 c HPT073 Hepatitis C Virus 72
1425 VNH007 Von Hippel-Lindau Syndrome 72
1426 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
1427 ADR007 Adrenoleukodystrophy 71
1428 KWS002 Kawasaki Disease 71
1429 P TRN020 Turner Syndrome 71
1430 P AGM001 Agammaglobulinemia 71
1431 FBR012 Fabry Disease 71
1432 P ALG028 Alagille Syndrome 1 70
1433 P DMN001 Diamond-Blackfan Anemia 70
1434 P SPR120 Supranuclear Palsy, Progressive, 1 70
1435 c HPT016 Hepatitis B 70
1436 MYL009 Myelodysplastic Syndrome 70
1437 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
1438 MYL005 Myelofibrosis 69
1439 BRK010 Burkitt Lymphoma 69
1440 APR006 Apert Syndrome 69
1441 P TYS001 Tay-Sachs Disease 69
1442 c HPT001 Hepatitis C 69
1443 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 69
1444 P FRG001 Fragile X Syndrome 69
1445 P ORT004 Orthostatic Intolerance 69
1446 P LKM062 Leukemia, Acute Lymphoblastic 68
1447 P ALC004 Alcohol Abuse 68
1448 c PRM196 Premature Ovarian Failure 1 68
1449 SMT004 Smith-Lemli-Opitz Syndrome 68
1450 P PSD087 Pseudoxanthoma Elasticum 68
1451 c ATS007 Autism Spectrum Disorder 67
1452 P HYD006 Hydrocephalus 67
1453 P KRB001 Krabbe Disease 67
1454 c DNG003 Dengue Disease 67
1455 P ATS364 Autism 67
1456 P DYS007 Dyskeratosis Congenita 67
1457 DMN031 Dementia, Lewy Body 67
1458 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1459 P ASP006 Aspergillosis 66
1460 c TBR026 Tuberous Sclerosis 2 66
1461 LWC002 Lowe Oculocerebrorenal Syndrome 66
1462 P LYN001 Lynch Syndrome 66
1463 c MCP050 Mucopolysaccharidosis, Type Ii 66
1464 P GCH001 Gaucher's Disease 66
1465 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
1466 c CHR417 Chronic Graft Versus Host Disease 66
1467 c GLY008 Glycogen Storage Disease Ii 66
1468 P KBK002 Kabuki Syndrome 1 66
1469 P SPN046 Spinal Muscular Atrophy 66
1470 INC021 Incontinentia Pigmenti 66
1471 c NNN010 Noonan Syndrome 3 65
1472 P CCK001 Cockayne Syndrome 65
1473 c GCH015 Gaucher Disease, Type I 65
1474 STH001 Saethre-Chotzen Syndrome 65
1475 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
1476 P THL005 Thalassemia 65
1477 c MCL062 Mucolipidosis Ii Alpha/beta 64
1478 NRR002 Norrie Disease 64
1479 P HML033 Hemolytic Uremic Syndrome, Atypical 1 64
1480 CST001 Costello Syndrome 64
1481 P CRD224 Cardiofaciocutaneous Syndrome 1 64
1482 CRB011 Cerebrotendinous Xanthomatosis 64
1483 P MSC007 Muscle Hypertrophy 64
1484 c CNG411 Congenital Disorder of Glycosylation, Type in 64
1485 c MCP049 Mucopolysaccharidosis, Type Vii 64
1486 TBC004 Tobacco Addiction 64
1487 P LPR021 Leprosy 3 63
1488 WLL001 Williams-Beuren Syndrome 63
1489 P SHW006 Shwachman-Diamond Syndrome 1 63
1490 TNG002 Tangier Disease 63
1491 PRP083 Porphyria, Acute Intermittent 63
1492 P CRN015 Cornelia De Lange Syndrome 63
1493 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1494 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 62
1495 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
1496 LSC001 Lesch-Nyhan Syndrome 62
1497 SDD001 Sudden Infant Death Syndrome 62
1498 P MCK013 Meckel Syndrome, Type 1 62
1499 P DNG005 Dengue Virus 62
1500 RFS006 Refsum Disease, Classic 62
1501 P GLY013 Glycogen Storage Disease 61
1502 P NMN002 Niemann-Pick Disease 61
1503 P HYP055 Hypoplastic Left Heart Syndrome 61
1504 P CRN300 Coronary Heart Disease 1 61
1505 ALP103 Alpha-1-Antitrypsin Deficiency 61
1506 P MTR004 Maturity-Onset Diabetes of the Young 61
1507 DRR014 Darier-White Disease 61
1508 c GCH016 Gaucher Disease, Type Ii 61
1509 KLP010 Klippel-Trenaunay-Weber Syndrome 61
1510 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1511 HYP810 Hypereosinophilic Syndrome, Idiopathic 61
1512 P VNT002 Ventricular Septal Defect 61
1513 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
1514 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
1515 P MLG056 Malignant Hyperthermia 60
1516 DNH001 Donohue Syndrome 60
1517 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
1518 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
1519 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
1520 P WLF004 Wolfram Syndrome 60
1521 LYS012 Lysosomal Acid Lipase Deficiency 60
1522 CNT061 Conotruncal Heart Malformations 60
1523 P SPN052 Spondyloarthropathy 59
1524 ARG002 Argininosuccinic Aciduria 59
1525 PTR032 Peters-Plus Syndrome 59
1526 NTH001 Netherton Syndrome 59
1527 P CHL002 Childhood Absence Epilepsy 59
1528 CFF002 Coffin-Lowry Syndrome 59
1529 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 59
1530 c GLC097 Glaucoma 3, Primary Congenital, a 59
1531 P NRC002 Narcolepsy 59
1532 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 58
1533 c ANG068 Angioedema, Hereditary, Type I 58
1534 P OCL013 Oculodentodigital Dysplasia 58
1535 P PRM002 Primary Hyperoxaluria 58
1536 c PRT132 Protoporphyria, Erythropoietic, 1 58
1537 c FNC042 Fanconi Anemia, Complementation Group D2 58
1538 c MYT020 Myotonic Dystrophy 2 58
1539 c NMN016 Niemann-Pick Disease, Type B 58
1540 c PRX045 Peroxisome Biogenesis Disorder 1b 58
1541 P ATR010 Atrial Heart Septal Defect 58
1542 c CRP023 Carpenter Syndrome 1 58
1543 STR039 Sturge-Weber Syndrome 58
1544 c GCH017 Gaucher Disease, Type Iii 58
1545 HYP730 Hypogonadotropic Hypogonadism 58
1546 c ACT135 Acute Graft Versus Host Disease 58
1547 GRN051 Granulomatous Disease, Chronic, X-Linked 57
1548 P ANG015 Angioedema 57
1549 P AXN002 Axenfeld-Rieger Syndrome 57
1550 EXF001 Exfoliation Syndrome 57
1551 c RHB024 Rhabdomyosarcoma 2 57
1552 P ICH004 Ichthyosis 57
1553 P SLV001 Silver-Russell Syndrome 57
1554 ANN002 Anencephaly 57
1555 CTR172 Citrullinemia, Classic 57
1556 c CRN139 Cornelia De Lange Syndrome 1 57
1557 PRP082 Porphyria, Congenital Erythropoietic 57
1558 STS003 Sitosterolemia 57
1559 c ACT075 Acute Myocardial Infarction 57
1560 SMT008 Smith-Magenis Syndrome 57
1561 LCR014 Lacrimoauriculodentodigital Syndrome 57
1562 PRP032 Porphyria Variegata 57
1563 P VND007 Van Der Woude Syndrome 1 57
1564 CPR004 Coproporphyria, Hereditary 56
1565 FCT001 Factor Viii Deficiency 56
1566 FCT003 Factor X Deficiency 56
1567 OST024 Osteoporosis-Pseudoglioma Syndrome 56
1568 MTC097 Mitochondrial Complex Iv Deficiency 56
1569 CHN055 Chanarin-Dorfman Syndrome 56
1570 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 56
1571 P STC001 Stickler Syndrome 56
1572 P ATR001 Atrioventricular Septal Defect 56
1573 GRG001 Greig Cephalopolysyndactyly Syndrome 56
1574 PRT082 Preterm Premature Rupture of the Membranes 55
1575 P AGG001 Aggressive Periodontitis 55
1576 ASP002 Aspartylglucosaminuria 55
1577 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 55
1578 c HPT007 Hepatitis E 55
1579 c WLF013 Wolfram Syndrome 1 55
1580 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1581 ART002 Arts Syndrome 55
1582 P HLL001 Hallermann-Streiff Syndrome 55
1583 P ATS308 Autosomal Dominant Cerebellar Ataxia 55
1584 P HYD033 Hydrolethalus Syndrome 1 55
1585 c NNN012 Noonan Syndrome 5 55
1586 P CRN108 Cranioectodermal Dysplasia 1 55
1587 HRL003 Hurler Syndrome 55
1588 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 55
1589 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 54
1590 c ANM036 Anemia, Sideroblastic, 1 54
1591 P FNC044 Fanconi Anemia, Complementation Group C 54
1592 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
1593 c BRC078 Brachydactyly, Type A1 54
1594 P HYP726 Hypercalcemia, Infantile, 1 54
1595 GNR004 Generalized Anxiety Disorder 54
1596 c CRG004 Crigler-Najjar Syndrome, Type Ii 54
1597 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
1598 BRL010 Buruli Ulcer 54
1599 c LBR014 Leber Congenital Amaurosis 4 54
1600 P SCK004 Seckel Syndrome 54
1601 MLT135 Multiple Sulfatase Deficiency 54
1602 c BRC051 Brachydactyly, Type B1 54
1603 ABL002 Ablepharon-Macrostomia Syndrome 53
1604 c NNN009 Noonan Syndrome 2 53
1605 MCK005 Mckusick-Kaufman Syndrome 53
1606 P CNG010 Congenital Stationary Night Blindness 53
1607 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
1608 RNP003 Renpenning Syndrome 1 53
1609 c ART144 Arthrogryposis, Distal, Type 1a 53
1610 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 53
1611 ENH001 Enhanced S-Cone Syndrome 53
1612 P OPN001 Open-Angle Glaucoma 53
1613 c SCN036 Secondary Progressive Multiple Sclerosis 53
1614 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
1615 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 53
1616 c OST163 Osteopetrosis, Autosomal Recessive 3 52
1617 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 52
1618 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 52
1619 c HPT015 Hepatitis D 52
1620 c WRD033 Waardenburg Syndrome, Type 2e 52
1621 c INV001 Invasive Aspergillosis 52
1622 P ACT010 Acth-Secreting Pituitary Adenoma 52
1623 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 52
1624 RGH009 Right Atrial Isomerism 52
1625 c ART120 Arthrogryposis, Distal, Type 3 52
1626 c PRD039 Periodontitis, Aggressive, 1 52
1627 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1628 P MYP087 Myopathy, Tubular Aggregate, 1 52
1629 DYS192 Dystonia, Dopa-Responsive 52
1630 P MYT002 Myotonic Dystrophy 52
1631 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1632 P VSC013 Visceral Heterotaxy 52
1633 P MYM013 Moyamoya Disease 1 52
1634 P EPL116 Epileptic Encephalopathy, Childhood-Onset 52
1635 ALP097 Alopecia Universalis Congenita 52
1636 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
1637 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 52
1638 GLC012 Galactosialidosis 52
1639 P PSD015 Pseudohypoparathyroidism 51
1640 CCH002 Coach Syndrome 51
1641 P ALT001 Alternating Hemiplegia of Childhood 51
1642 BRT005 Barth Syndrome 51
1643 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 51
1644 c BRD012 Bardet-Biedl Syndrome 11 51
1645 c CLR131 Ciliary Dyskinesia, Primary, 1 51
1646 c PRM108 Primary Progressive Multiple Sclerosis 51
1647 c AXN009 Axenfeld-Rieger Syndrome, Type 1 51
1648 P NRB010 Neuroblastoma 1 51
1649 CMP028 Complement Component 2 Deficiency 51
1650 c PRX059 Peroxisome Biogenesis Disorder 1a 50
1651 P VNB005 Van Buchem Disease 50
1652 MTC020 Mitochondrial Complex Ii Deficiency 50
1653 GLC004 Galactokinase Deficiency 50
1654 P BRS053 Breast Fibroadenoma 50
1655 c ACR116 Aicardi-Goutieres Syndrome 1 50
1656 P BRC006 Brachydactyly 50
1657 P INF049 Infantile Myofibromatosis 50
1658 DYG001 Dyggve-Melchior-Clausen Disease 50
1659 P WLL002 Weill-Marchesani Syndrome 50
1660 FSH001 Fish-Eye Disease 50
1661 c VNW008 Von Willebrand Disease, Type 3 50
1662 c CCK007 Cockayne Syndrome B 50
1663 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
1664 P HYP087 Hypotrichosis 50
1665 c NML002 Nemaline Myopathy 1 50
1666 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
1667 P GNG025 Gingival Fibromatosis 50
1668 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
1669 CTY001 Cat Eye Syndrome 50
1670 RST011 Restrictive Dermopathy, Lethal 50
1671 c BRC109 Brachydactyly, Type E1 50
1672 P AFB001 Afibrinogenemia 50
1673 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
1674 CHR101 Char Syndrome 50
1675 DNN001 Danon Disease 50
1676 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 50
1677 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 49
1678 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
1679 P CLS054 Classic Ehlers-Danlos Syndrome 49
1680 DRR008 Diarrhea 1, Secretory Chloride, Congenital 49
1681 HYP025 Hyperphosphatemia 49
1682 HYP081 Hypolipoproteinemia 49
1683 P PRX021 Proximal Symphalangism 49
1684 c ACH041 Achondrogenesis, Type Ii 49
1685 c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 49
1686 ALL001 Allan-Herndon-Dudley Syndrome 49
1687 BTY001 Butyrylcholinesterase Deficiency 49
1688 PHL006 Phelan-Mcdermid Syndrome 49
1689 c NRC009 Narcolepsy 1 49
1690 P NLX004 Neu-Laxova Syndrome 1 49
1691 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1692 c AXN010 Axenfeld-Rieger Syndrome, Type 3 49
1693 c PSR017 Psoriasis 2 49
1694 HYP088 Hyper-Igd Syndrome 49
1695 FRB001 Farber Lipogranulomatosis 49
1696 c NML003 Nemaline Myopathy 2 49
1697 ORT008 Orotic Aciduria 49
1698 c GM2006 Gm2 Gangliosidosis 49
1699 c GRS014 Griscelli Syndrome, Type 2 48
1700 P NML001 Nemaline Myopathy 48
1701 RVS001 Revesz Syndrome 48
1702 c WRD032 Waardenburg Syndrome, Type 2a 48
1703 c BRD044 Bardet-Biedl Syndrome 17 48
1704 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
1705 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 48
1706 c 3MT015 3-Methylglutaconic Aciduria, Type I 48
1707 NNC002 Nance-Horan Syndrome 48
1708 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
1709 ACR058 Acrofacial Dysostosis 1, Nager Type 48
1710 HYP741 Hyperparathyroidism 2 with Jaw Tumors 48
1711 c RTN177 Retinitis Pigmentosa 73 48
1712 c FRS014 Fraser Syndrome 1 48
1713 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
1714 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
1715 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
1716 P TYR004 Tyrosinemia 48
1717 JHN001 Johanson-Blizzard Syndrome 48
1718 c FNC032 Fanconi Anemia, Complementation Group B 48
1719 SGW002 Segawa Syndrome, Autosomal Recessive 48
1720 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 48
1721 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 48
1722 KRT010 Kartagener Syndrome 48
1723 ATS010 Autosomal Recessive Disease 48
1724 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 48
1725 MYD002 Myd88 Deficiency 48
1726 c HMC010 Hemochromatosis, Type 3 47
1727 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 47
1728 MCR165 Microphthalmia with Limb Anomalies 47
1729 P NNT009 Neonatal Diabetes Mellitus 47
1730 P MYF003 Myofibrillar Myopathy 47
1731 c SCK009 Seckel Syndrome 1 47
1732 c HNT004 Huntington Disease-Like 2 47
1733 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 47
1734 P CNR007 Cone-Rod Dystrophy 6 47
1735 DWR001 Dwarfism 47
1736 P MTH007 Methemoglobinemia 47
1737 c HMC035 Hemochromatosis, Type 4 47
1738 c ALB019 Albinism, Oculocutaneous, Type Iv 47
1739 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
1740 c MYP072 Myopathy, Myofibrillar, 1 47
1741 TRN022 Transcobalamin Ii Deficiency 47
1742 NRL018 Neural Tube Defects, Folate-Sensitive 47
1743 HYP231 Hypothalamic Hamartomas 47
1744 c RTN142 Retinitis Pigmentosa 38 47
1745 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 47
1746 c SCH079 Schizophrenia 1 47
1747 c BRD032 Bardet-Biedl Syndrome 14 47
1748 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 47
1749 P GNG009 Gangliosidosis 47
1750 P MRD002 Marden-Walker Syndrome 47
1751 c ART155 Arthrogryposis, Distal, Type 2b1 47
1752 P FNG006 Feingold Syndrome 1 46
1753 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
1754 PHS021 Phosphoglycerate Dehydrogenase Deficiency 46
1755 c BRC079 Brachydactyly, Type A2 46
1756 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
1757 c FNC028 Fanconi Anemia, Complementation Group L 46
1758 CHR594 Chromosome 3q29 Deletion Syndrome 46
1759 HRT031 Hartnup Disorder 46
1760 P PRK001 Porokeratosis 46
1761 ATS008 Autosomal Dominant Disease 46
1762 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 46
1763 c USH035 Usher Syndrome Type 2 46
1764 c SPH013 Spherocytosis, Type 1 46
1765 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1766 MYP136 Myopathy, Centronuclear, X-Linked 46
1767 SND002 Sneddon Syndrome 46
1768 c WRD020 Waardenburg Syndrome, Type 4a 46
1769 c 3MT014 3-Methylglutaconic Aciduria, Type V 46
1770 CRD002 Cri-Du-Chat Syndrome 46
1771 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
1772 c WRD019 Waardenburg Syndrome, Type 4b 46
1773 c LTN004 Late-Onset Retinal Degeneration 46
1774 P CRN276 Corneal Endothelial Dystrophy 46
1775 c RTN172 Retinitis Pigmentosa 1 46
1776 c HMC009 Hemochromatosis Type 2 46
1777 c ALB015 Albinism, Oculocutaneous, Type V 46
1778 c USH021 Usher Syndrome, Type Iid 46
1779 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
1780 KBG001 Kbg Syndrome 46
1781 P DNR001 Duane Retraction Syndrome 46
1782 CHR492 Chromosome 13q14 Deletion Syndrome 45
1783 P MCL001 Mucolipidosis 45
1784 c NNN013 Noonan Syndrome 6 45
1785 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 45
1786 c CRN243 Carney Complex, Type 1 45
1787 c BRC081 Brachydactyly, Type C 45
1788 P WHT013 White Sponge Nevus 1 45
1789 MNL001 Monilethrix 45
1790 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
1791 c FNC029 Fanconi Anemia, Complementation Group I 45
1792 STT007 Steatocystoma Multiplex 45
1793 c FNC045 Fanconi Anemia, Complementation Group F 45
1794 c BRD020 Bardet-Biedl Syndrome 8 45
1795 GLC106 Glucocorticoid Resistance, Generalized 45
1796 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
1797 P TRM004 Trimethylaminuria 45
1798 LPP002 Lipoprotein Glomerulopathy 45
1799 c ATR066 Atrial Septal Defect 2 45
1800 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
1801 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 45
1802 c BRD033 Bardet-Biedl Syndrome 13 45
1803 c ACH021 Achromatopsia 3 45
1804 c BRC060 Brachydactyly, Type E2 45
1805 MRG013 Mirage Syndrome 45
1806 c MCL066 Macular Dystrophy, Vitelliform, 2 44
1807 MLB001 Mulibrey Nanism 44
1808 c WRD031 Waardenburg Syndrome, Type 3 44
1809 P CHN044 Chondrodysplasia Punctata Syndrome 44
1810 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 44
1811 P JVN024 Juvenile Hereditary Hemochromatosis 44
1812 c HYP507 Hypotrichosis 1 44
1813 c BRD011 Bardet-Biedl Syndrome 10 44
1814 c MCK032 Meckel Syndrome, Type 3 44
1815 c BRT050 Bartter Syndrome, Type 2, Antenatal 44
1816 MHR001 Mohr-Tranebjaerg Syndrome 44
1817 ACD008 Acid-Labile Subunit Deficiency 44
1818 c HYP543 Hypoplastic Left Heart Syndrome 1 44
1819 MWT001 Mowat-Wilson Syndrome 44
1820 c FNC057 Fanconi Anemia, Complementation Group U 44
1821 c AMY069 Amyotrophic Lateral Sclerosis 21 44
1822 NTR018 Neutrophilia, Hereditary 44
1823 c NML004 Nemaline Myopathy 3 44
1824 RST023 Resting Heart Rate, Variation in 44
1825 c BRC052 Brachydactyly, Type B2 44
1826 c MCK012 Meckel Syndrome, Type 6 44
1827 P SYN012 Synpolydactyly 44
1828 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 44
1829 MYL013 Myeloperoxidase Deficiency 44
1830 c BRD018 Bardet-Biedl Syndrome 6 44
1831 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
1832 c TRN032 Transient Neonatal Diabetes Mellitus 44
1833 P ANL018 Analbuminemia 44
1834 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
1835 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 43
1836 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 43
1837 c JBR024 Joubert Syndrome 14 43
1838 c TYR011 Tyrosinemia, Type Iii 43
1839 c RTN160 Retinitis Pigmentosa 60 43
1840 c PSR028 Psoriasis 7 43
1841 c PSR032 Psoriasis 11 43
1842 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
1843 NNK001 Nonaka Myopathy 43
1844 RBF001 Riboflavin Deficiency 43
1845 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
1846 FRG010 Fragile X Tremor/ataxia Syndrome 43
1847 c FNC025 Fanconi Anemia, Complementation Group J 43
1848 PRM057 Paramyotonia Congenita of Von Eulenburg 43
1849 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
1850 ATR013 Atrichia with Papular Lesions 43
1851 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
1852 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 43
1853 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43
1854 PKL001 Poikiloderma with Neutropenia 43
1855 P BNG032 Benign Mesothelioma 43
1856 c MYP123 Myopathy, Centronuclear, 1 43
1857 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
1858 P OCY003 Oocyte Maturation Defect 1 42
1859 GLC084 Glaucoma, Normal Tension 42
1860 c NNN011 Noonan Syndrome 4 42
1861 P CNG003 Congenital Dyserythropoietic Anemia 42
1862 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42
1863 ATN014 Autoinflammation with Arthritis and Dyskeratosis 42
1864 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 42
1865 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 42
1866 c SPN330 Spondylocostal Dysostosis 5 42
1867 c MCL016 Mucolipidosis Iii Gamma 42
1868 c PSR018 Psoriasis 13 42
1869 c BRC062 Brachydactyly, Type D 42
1870 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
1871 P DYS005 Dyslexia 42
1872 c BRD048 Bardet-Biedl Syndrome 18 42
1873 c SPL034 Split-Hand/foot Malformation 4 42
1874 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
1875 c RTN143 Retinitis Pigmentosa 47 42
1876 NVS015 Nevus Comedonicus 42
1877 P CHR084 Chromosomal Disease 42
1878 c EPP014 Epiphyseal Dysplasia, Multiple, 4 42
1879 c FNC023 Fanconi Anemia, Complementation Group N 42
1880 HND004 Hand-Foot-Genital Syndrome 42
1881 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
1882 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 42
1883 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
1884 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
1885 c SPH014 Spherocytosis, Type 2 42
1886 c BRD035 Bardet-Biedl Syndrome 15 42
1887 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
1888 MYP151 Myopathy, Congenital, Bailey-Bloch 42
1889 c RTN043 Retinitis Pigmentosa 13 42
1890 ATX038 Ataxia and Polyneuropathy, Adult-Onset 42
1891 c JBR015 Joubert Syndrome 6 42
1892 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 42
1893 P PST059 Pustular Psoriasis 42
1894 HYL004 Hyaline Fibromatosis Syndrome 42
1895 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 42
1896 c ACQ012 Acquired Angioedema 42
1897 P CHR637 Choroidal Dystrophy, Central Areolar, 1 41
1898 P DYS023 Dyschromatosis Universalis Hereditaria 41
1899 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 41
1900 CRR002 Currarino Syndrome 41
1901 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
1902 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
1903 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
1904 c HYP575 Hypotrichosis 7 41
1905 CHR178 Chromosomal Triplication 41
1906 c CTR130 Cataract 9, Multiple Types 41
1907 c PRM212 Primary Microcephaly 41
1908 c HMC021 Hemochromatosis, Type 2a 41
1909 c LRS002 Larsen-Like Syndrome 41
1910 SPN331 Spondyloocular Syndrome 41
1911 c RTS003 Ritscher-Schinzel Syndrome 1 41
1912 c ALB016 Albinism, Oculocutaneous, Type Vii 41
1913 MYP139 Myopathy, Proximal, and Ophthalmoplegia 41
1914 CHR211 Chromosome 18p Deletion Syndrome 41
1915 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
1916 c GLY023 Glycogen Storage Disease Type 0 41
1917 MYH012 Myhre Syndrome 41
1918 c CTR098 Cataract 1, Multiple Types 41
1919 TRS021 Triosephosphate Isomerase Deficiency 41
1920 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
1921 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
1922 HYP110 Hyperproinsulinemia 41
1923 P ATL001 Atelosteogenesis 41
1924 c GLY098 Glycogen Storage Disease, Type Ixd 41
1925 P MTC010 Mitochondrial Dna Depletion Syndrome 41
1926 c SCK015 Seckel Syndrome 2 41
1927 HYP801 Hyperferritinemia with or Without Cataract 41
1928 c PRC031 Preeclampsia/eclampsia 1 41
1929 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1930 SCR035 Sacral Agenesis with Vertebral Anomalies 41
1931 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
1932 P DNT009 Dentin Dysplasia 40
1933 P MCR364 Macrodactyly 40
1934 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 40
1935 c GLC083 Glaucoma 3, Primary Infantile, B 40
1936 PTC002 Potocki-Lupski Syndrome 40
1937 c MCR263 Microphthalmia, Syndromic 1 40
1938 CHR382 Chromosome 18q Deletion Syndrome 40
1939 SNL007 Senile Cataract 40
1940 P UVS001 Uv-Sensitive Syndrome 40
1941 c L2H001 L-2-Hydroxyglutaric Aciduria 40
1942 P PRT042 Parietal Foramina 40
1943 c ERL020 Early-Onset Schizophrenia 40
1944 ATM052 Autoimmune Disease 1 40
1945 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 40
1946 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 40
1947 MYP094 Myopathy, Spheroid Body 40
1948 GNT031 Genitopatellar Syndrome 40
1949 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 40
1950 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 40
1951 DHY011 Dihydropyrimidinase Deficiency 40
1952 ALR002 Al-Raqad Syndrome 40
1953 LRN006 Laurin-Sandrow Syndrome 40
1954 P SPL061 Split Hand-Foot Malformation 40
1955 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
1956 c OTP007 Otopalatodigital Syndrome, Type Ii 40
1957 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
1958 P JVN007 Juvenile Absence Epilepsy 40
1959 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
1960 c GLL038 Galloway-Mowat Syndrome 1 40
1961 P XNT004 Xanthinuria 40
1962 c HYP559 Hypotrichosis 8 40
1963 c NML005 Nemaline Myopathy 4 40
1964 SCR020 Sacral Defect with Anterior Meningocele 40
1965 c APL023 Aplasia Cutis Congenita, Nonsyndromic 40
1966 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 40
1967 HYP236 Hyperbilirubinemia, Rotor Type 40
1968 c BRD017 Bardet-Biedl Syndrome 5 39
1969 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
1970 BRB006 Barber-Say Syndrome 39
1971 CMP089 Complement Component 6 Deficiency 39
1972 c HYD064 Hydrocephalus, Congenital, 1 39
1973 PLY068 Polysubstance Abuse 39
1974 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 39
1975 c KNB006 Knobloch Syndrome 1 39
1976 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 39
1977 c NNN021 Noonan Syndrome 8 39
1978 EPL131 Epilepsy, Pyridoxine-Dependent 39
1979 c MCK033 Meckel Syndrome, Type 4 39
1980 LYM029 Lymphedema-Distichiasis Syndrome 39
1981 c MYP131 Myopathy, Centronuclear, 2 39
1982 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 39
1983 HRL004 Hurler-Scheie Syndrome 39
1984 P LSS024 Lissencephaly with Cerebellar Hypoplasia 39
1985 c NNN024 Noonan Syndrome 9 39
1986 c VNM003 Van Maldergem Syndrome 1 39
1987 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
1988 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
1989 c SPH016 Spherocytosis, Type 4 39
1990 CRN247 Corneal Dystrophy, Thiel-Behnke Type 39
1991 c MCK031 Meckel Syndrome, Type 2 39
1992 C1Q001 C1q Deficiency 39
1993 c HMN027 Hemangioma, Capillary Infantile 39
1994 FNT005 Fontaine Progeroid Syndrome 39
1995 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
1996 XFP001 Xfe Progeroid Syndrome 39
1997 PTT045 Pituitary Hormone Deficiency, Combined, 1 39
1998 OVR093 Overhydrated Hereditary Stomatocytosis 39
1999 GLS018 Glass Syndrome 39
2000 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
2001 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 38
2002 SLF014 Sulfite Oxidase Deficiency, Isolated 38
2003 CHR386 Chromosome 6pter-P24 Deletion Syndrome 38
2004 c SPL024 Split-Hand/foot Malformation 3 38
2005 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
2006 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
2007 c MCP051 Mucopolysaccharidosis, Type Ix 38
2008 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 38
2009 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
2010 c RTN090 Retinitis Pigmentosa 55 38
2011 HTR014 Heterotaxy, Visceral, 1, X-Linked 38
2012 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 38
2013 c SPH015 Spherocytosis, Type 3 38
2014 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 38
2015 HYP550 Hypomagnesemia 1, Intestinal 38
2016 c RTN048 Retinitis Pigmentosa 19 38
2017 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38
2018 DBT007 Diabetic Cataract 38
2019 CHR667 Chromosome 3pter-P25 Deletion Syndrome 38
2020 P PRD037 Periodontal Ehlers-Danlos Syndrome 38
2021 HNZ004 Heinz Body Anemias 38
2022 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 38
2023 c BRT038 Baraitser-Winter Syndrome 1 38
2024 CRD245 Cardiac-Urogenital Syndrome 38
2025 P BRN042 Branchiootic Syndrome 38
2026 c AML020 Amelogenesis Imperfecta, Type Iv 38
2027 P KLN006 Koolen-De Vries Syndrome 38
2028 c FNC048 Fanconi Anemia, Complementation Group O 38
2029 c CNR023 Cone-Rod Dystrophy 8 38
2030 c FNC062 Fanconi Anemia, Complementation Group S 38
2031 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
2032 c SCP001 Sc Phocomelia Syndrome 38
2033 c LSS006 Lissencephaly 2 38
2034 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
2035 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 38
2036 c WRB005 Warburg Micro Syndrome 4 38
2037 NTR007 Neutral Lipid Storage Disease with Myopathy 37
2038 c OST126 Osteopetrosis, Autosomal Recessive 1 37
2039 P ANT061 Antenatal Bartter Syndrome 37
2040 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
2041 c SPL070 Split-Hand/foot Malformation 2 37
2042 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
2043 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
2044 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
2045 c HYP581 Hypotrichosis 6 37
2046 DPH019 Diaphanospondylodysostosis 37
2047 c NNN025 Noonan Syndrome 10 37
2048 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
2049 c PRM032 Primary Congenital Glaucoma 37
2050 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
2051 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
2052 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
2053 c CNR003 Cone-Rod Dystrophy 1 37
2054 SLT014 Salt and Pepper Developmental Regression Syndrome 37
2055 c CNR017 Cone-Rod Dystrophy 9 37
2056 c USH041 Usher Syndrome, Type if 37
2057 P JVN008 Juvenile Glaucoma 37
2058 GLY032 Glycosylphosphatidylinositol Deficiency 37
2059 c RTN136 Retinitis Pigmentosa 44 37
2060 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
2061 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 37
2062 EPT021 Epithelial Recurrent Erosion Dystrophy 37
2063 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
2064 c MCK014 Meckel Syndrome, Type 5 37
2065 DSN001 De Sanctis-Cacchione Syndrome 37
2066 MND025 Mandibulofacial Dysostosis with Alopecia 37
2067 c MCR124 Microphthalmia, Isolated 1 37
2068 c INF092 Inflammatory Bowel Disease 9 37
2069 CRY032 Carey-Fineman-Ziter Syndrome 37
2070 LGN006 Legionnaire Disease 37
2071 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
2072 c CTR103 Cataract 4, Multiple Types 37
2073 INT258 Interstitial Nephritis, Karyomegalic 37
2074 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 37
2075 P SPS008 Spastic Ataxia 37
2076 OHD005 Ohdo Syndrome, Sbbys Variant 37
2077 FNC030 Fanconi Anemia, Complementation Group G 37
2078 c SPL033 Split-Hand/foot Malformation 6 37
2079 c GLY016 Glycogen Storage Disease Ib 37
2080 PRL047 Prolonged Electroretinal Response Suppression 37
2081 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
2082 c RTN044 Retinitis Pigmentosa 14 37
2083 CHR518 Chromosome 9p Deletion Syndrome 37
2084 MGL003 Megalocornea 37
2085 P CRB154 Cerebrocostomandibular Syndrome 37
2086 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 36
2087 c LBR007 Leber Congenital Amaurosis 12 36
2088 c BRD045 Bardet-Biedl Syndrome 19 36
2089 CRY019 Cryohydrocytosis 36
2090 c RTN149 Retinitis Pigmentosa 42 36
2091 c ATR031 Atrial Septal Defect 4 36
2092 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 36
2093 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
2094 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 36
2095 c RTN131 Retinitis Pigmentosa 27 36
2096 PRM087 Premature Chromatid Separation Trait 36
2097 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 36
2098 TRS002 Tarsal-Carpal Coalition Syndrome 36
2099 P SPC019 Specific Language Impairment 36
2100 TRN012 Transient Global Amnesia 36
2101 c CNR016 Cone-Rod Dystrophy 7 36
2102 CHR387 Chromosome Xp21 Deletion Syndrome 36
2103 LMB008 Limb-Mammary Syndrome 36
2104 BNB002 Bainbridge-Ropers Syndrome 36
2105 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
2106 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 36
2107 c USH042 Usher Syndrome, Type Ig 36
2108 P GLP001 Geleophysic Dysplasia 36
2109 c CTR118 Cataract 14, Multiple Types 36
2110 c WRD024 Waardenburg Syndrome, Type 4c 36
2111 EPP011 Epiphyseal Chondrodysplasia, Miura Type 36
2112 c ZMM002 Zimmermann-Laband Syndrome 1 36
2113 NCT003 N-Acetylglutamate Synthase Deficiency 36
2114 CRD220 Cardiac Valvular Defect, Developmental 36
2115 MNC019 Monocarboxylate Transporter 1 Deficiency 36
2116 c LBR011 Leber Congenital Amaurosis 16 36
2117 c CNG379 Congenital Disorder of Glycosylation, Type It 36
2118 c NRC010 Narcolepsy 2 36
2119 c WRB003 Warburg Micro Syndrome 2 36
2120 SNG007 Sengers Syndrome 36
2121 c NML006 Nemaline Myopathy 5 36
2122 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
2123 c ATS076 Autosomal Recessive Stickler Syndrome 36
2124 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 36
2125 c CTR170 Cataract 30, Multiple Types 36
2126 c SPR094 Sporadic Pheochromocytoma 36
2127 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
2128 PYR040 Pyropoikilocytosis, Hereditary 36
2129 c RTN066 Retinitis Pigmentosa 4 36
2130 CLC008 Colchicine Resistance 36
2131 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
2132 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
2133 c CTR115 Cataract 16, Multiple Types 35
2134 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
2135 c FNC047 Fanconi Anemia, Complementation Group Q 35
2136 c INF087 Inflammatory Bowel Disease 4 35
2137 c CTR141 Cataract 21, Multiple Types 35
2138 c RTN186 Retinitis Pigmentosa 75 35
2139 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
2140 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
2141 c BRD047 Bardet-Biedl Syndrome 16 35
2142 c RTN054 Retinitis Pigmentosa 25 35
2143 WRS002 Warsaw Breakage Syndrome 35
2144 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 35
2145 c NNN020 Noonan Syndrome 7 35
2146 GPS001 Gapo Syndrome 35
2147 OGD001 Ogden Syndrome 35
2148 c SVR040 Severe Congenital Nemaline Myopathy 35
2149 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35
2150 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
2151 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 35
2152 TKN001 Takenouchi-Kosaki Syndrome 35
2153 c SPH017 Spherocytosis, Type 5 35
2154 c FNC058 Fanconi Anemia, Complementation Group R 35
2155 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 35
2156 c MYP079 Myopathy, Myofibrillar, 5 35
2157 ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 35
2158 CHR501 Chromosome 17q12 Deletion Syndrome 35
2159 c CTR122 Cataract 5, Multiple Types 35
2160 c MLG157 Malignant Pheochromocytoma 35
2161 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 35
2162 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
2163 CYT004 Cytomegalic Inclusion Disease 35
2164 CLD003 Cold-Induced Sweating Syndrome 35
2165 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 35
2166 c TRC078 Trichohepatoenteric Syndrome 2 35
2167 PRM056 Primrose Syndrome 35
2168 P HYP111 Hyperprolinemia 35
2169 MNC011 Minicore Myopathy with External Ophthalmoplegia 35
2170 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 35
2171 c JBR025 Joubert Syndrome 17 35
2172 c JBR041 Joubert Syndrome 3 34
2173 c RTN047 Retinitis Pigmentosa 18 34
2174 c RTN134 Retinitis Pigmentosa 40 34
2175 P OMD003 Omodysplasia 34
2176 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
2177 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 34
2178 c CNR013 Cone-Rod Dystrophy 12 34
2179 CLR133 Colorblindness, Partial, Protan Series 34
2180 c DYS067 Dystonia 6, Torsion 34
2181 c HRD142 Hereditary Xanthinuria 34
2182 KNZ001 Kanzaki Disease 34
2183 c FNC052 Fanconi Anemia, Complementation Group T 34
2184 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 34
2185 SCH071 Schaaf-Yang Syndrome 34
2186 c RTN050 Retinitis Pigmentosa 20 34
2187 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
2188 CMP040 Complement Component 4, Partial Deficiency of 34
2189 CRN141 Corneal Dystrophy, Reis-Bucklers Type 34
2190 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
2191 CHR659 Chromosome 22q11.2 Duplication Syndrome 34
2192 P MYS032 Myosin Storage Myopathy 34
2193 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
2194 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 34
2195 c RTN042 Retinitis Pigmentosa 12 34
2196 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
2197 FLT009 Folate Malabsorption, Hereditary 34
2198 P SYN059 Syndactyly, Type V 34
2199 PHS022 Phosphoserine Phosphatase Deficiency 34
2200 c SPL025 Split-Hand/foot Malformation 5 34
2201 c RTN165 Retinitis Pigmentosa 68 34
2202 c OVR075 Ovarian Dysgenesis 1 34
2203 c RTN051 Retinitis Pigmentosa 22 34
2204 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
2205 ACR043 Acromicric Dysplasia 34
2206 CRB081 Cerebellar Ataxia, Cayman Type 34
2207 P AST055 Asthma-Related Traits 1 34
2208 TRP006 Tarp Syndrome 34
2209 KLL014 Kelley-Seegmiller Syndrome 34
2210 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34
2211 c SYN061 Syndactyly, Type Iv 34
2212 P ATR022 Atrial Septal Defect 3 34
2213 c RTN055 Retinitis Pigmentosa 26 33
2214 INF159 Infantile Sialic Acid Storage Disease 33
2215 c THY084 Thyrotoxic Periodic Paralysis 1 33
2216 c WRD010 Waardenburg Syndrome Type 4 33
2217 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
2218 c GLY057 Glycogen Storage Disease X 33
2219 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 33
2220 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 33
2221 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 33
2222 P 3MT007 3-Methylglutaconic Aciduria 33
2223 c FNC056 Fanconi Anemia, Complementation Group V 33
2224 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 33
2225 c CTR125 Cataract 7 33
2226 c MYT027 Myotonia Congenita, Autosomal Dominant 33
2227 BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 33
2228 TRM011 Terminal Osseous Dysplasia 33
2229 SRC015 Sarcosinemia 33
2230 c DMN021 Diamond-Blackfan Anemia 6 33
2231 c ICH023 Ichthyosis, Acquired 33
2232 c ORT011 Orthostatic Hypotension 1 33
2233 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 33
2234 c CRN109 Cranioectodermal Dysplasia 2 33
2235 P RTS001 Ritscher-Schinzel Syndrome 33
2236 c BRD019 Bardet-Biedl Syndrome 7 33
2237 c MCK034 Meckel Syndrome, Type 8 33
2238 c HTR021 Heterotaxy, Visceral, 5, Autosomal 33
2239 PHS014 Phosphoglycerate Kinase 1 Deficiency 33
2240 c NNS043 Nonsyndromic Retinitis Pigmentosa 33
2241 c KLF004 Kleefstra Syndrome 1 33
2242 c BST008 Bestrophinopathy, Autosomal Recessive 33
2243 P UNC017 Uncombable Hair Syndrome 1 33
2244 c CTR145 Cataract 44 33
2245 CHR377 Chromosome 10q26 Deletion Syndrome 33
2246 BRC004 Brachydactyly-Syndactyly Syndrome 33
2247 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
2248 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
2249 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
2250 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
2251 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 33
2252 HYD007 Hydrophthalmos 33
2253 HYP540 Hypertension, Diastolic 33
2254 c PRX055 Peroxisome Biogenesis Disorder 11a 33
2255 c GLP003 Geleophysic Dysplasia 1 33
2256 c AML057 Amelogenesis Imperfecta, Type Iiia 33
2257 c CTR096 Cataract 6, Multiple Types 33
2258 GBT001 Gaba-Transaminase Deficiency 33
2259 P WRB001 Warburg Micro Syndrome 32
2260 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
2261 c JBR012 Joubert Syndrome 5 32
2262 c RTN067 Retinitis Pigmentosa 41 32
2263 c RTN062 Retinitis Pigmentosa 33 32
2264 c LPR022 Leprosy 2 32
2265 CHR247 Chromosome 4p Deletion 32
2266 BSL037 Basal Laminar Drusen 32
2267 c HYP515 Hypotrichosis 3 32
2268 CHR582 Chromosome 3q29 Duplication Syndrome 32
2269 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 32
2270 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
2271 c EPL133 Epilepsy, Juvenile Absence 1 32
2272 MCR096 Macrocephaly/autism Syndrome 32
2273 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
2274 OLV004 Oliver-Mcfarlane Syndrome 32
2275 c CND011 Cone Dystrophy 3 32
2276 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
2277 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
2278 CMB020 Combined Saposin Deficiency 32
2279 WDH003 Woodhouse-Sakati Syndrome 32
2280 P HYP700 Hypomyelinating Leukodystrophy 32
2281 c RBN008 Rubinstein-Taybi Syndrome 2 32
2282 CRN285 Corneal Dystrophy, Fleck 32
2283 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 32
2284 HSD004 Hsd10 Mitochondrial Disease 32
2285 c SYN084 Synpolydactyly 1 32
2286 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
2287 c WLL036 Weill-Marchesani Syndrome 1 32
2288 c HYP716 Hypermanganesemia with Dystonia 1 32
2289 c RTN133 Retinitis Pigmentosa 43 32
2290 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 32
2291 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
2292 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
2293 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
2294 CRT045 Creatine Phosphokinase, Elevated Serum 32
2295 c JBR022 Joubert Syndrome 20 32
2296 c HYP525 Hypotrichosis 2 32
2297 c PRX060 Peroxisome Biogenesis Disorder 5a 32
2298 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
2299 P PLY148 Polydactyly, Preaxial Ii 32
2300 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
2301 ARL004 Aural Atresia, Congenital 32
2302 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
2303 P BCT020 Bacteremia 2 32
2304 P NNS031 Non-Syndromic Intellectual Disability 32
2305 c NGH007 Night Blindness, Congenital Stationary, Type 1b 32
2306 c HMC034 Hemochromatosis, Type 5 32
2307 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 31
2308 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
2309 c RTN046 Retinitis Pigmentosa 17 31
2310 c MCR329 Microcephaly, Autosomal Dominant 31
2311 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 31
2312 ESN009 Eosinophil Peroxidase Deficiency 31
2313 c GLP004 Geleophysic Dysplasia 2 31
2314 c RTN068 Retinitis Pigmentosa 6 31
2315 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
2316 P LTH003 Lethal Congenital Contracture Syndrome 31
2317 PRT130 Protein Z Deficiency 31
2318 P CRN249 Cornea Plana 31
2319 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 31
2320 c INT274 Intermediate Congenital Nemaline Myopathy 31
2321 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
2322 c RTN059 Retinitis Pigmentosa 30 31
2323 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 31
2324 SVN002 Sveinsson Chorioretinal Atrophy 31
2325 c RTN064 Retinitis Pigmentosa 35 31
2326 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
2327 c CNG188 Congenital Disorder of Glycosylation, Type if 31
2328 c CCK002 Cockayne Syndrome Type I 31
2329 P HRD144 Hereditary Mixed Polyposis Syndrome 31
2330 P MTP005 Metaphyseal Anadysplasia 31
2331 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
2332 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
2333 MTP028 Metaphyseal Dysplasia, Spahr Type 31
2334 c RTN056 Retinitis Pigmentosa 28 31
2335 c RTN116 Retinitis Pigmentosa 56 31
2336 ALG027 Al-Gazali-Bakalinova Syndrome 31
2337 P INV008 Invasive Pneumococcal Disease, Recurrent Isolated, 1 31
2338 c AML017 Amelogenesis Imperfecta, Type Ib 31
2339 c RTN129 Retinitis Pigmentosa 49 31
2340 c ATR062 Atrial Septal Defect 1 31
2341 c ACQ027 Acquired Cutis Laxa 31
2342 c ACR081 Aicardi-Goutieres Syndrome 6 31
2343 c INF086 Inflammatory Bowel Disease 3 31
2344 LRY022 Laryngoonychocutaneous Syndrome 31
2345 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
2346 c CNR006 Cone-Rod Dystrophy 5 31
2347 c AMY089 Amyotrophic Lateral Sclerosis 7 31
2348 c MYC058 Myocardial Infarction 2 31
2349 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
2350 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 31
2351 PRP038 Properdin Deficiency, X-Linked 31
2352 c RTN152 Retinitis Pigmentosa 66 31
2353 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
2354 ALZ030 Alazami Syndrome 31
2355 c RTN169 Retinitis Pigmentosa 70 31
2356 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 31
2357 MYP120 Myopathy, Distal, with Rimmed Vacuoles 31
2358 MYC071 Myoclonic-Atonic Epilepsy 31
2359 c CTR158 Cataract 37 31
2360 RHM034 Rahman Syndrome 31
2361 c SCK010 Seckel Syndrome 4 31
2362 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
2363 c INF089 Inflammatory Bowel Disease 6 30
2364 c PLZ002 Pelizaeus-Merzbacher-Like Disease 30
2365 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 30
2366 P DSB002 Desbuquois Dysplasia 30
2367 c MYP080 Myopathy, Myofibrillar, 4 30
2368 c PRX056 Peroxisome Biogenesis Disorder 11b 30
2369 c THY083 Thyrotoxic Periodic Paralysis 2 30
2370 c SCK011 Seckel Syndrome 5 30
2371 c SCH082 Schizophrenia 5 30
2372 c CTR129 Cataract 31, Multiple Types 30
2373 c RTN114 Retinitis Pigmentosa 58 30
2374 c CTR095 Cataract 8, Multiple Types 30
2375 c CNR005 Cone-Rod Dystrophy 3 30
2376 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
2377 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 30
2378 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
2379 c LBR013 Leber Congenital Amaurosis 3 30
2380 MTH077 Methylmalonic Aciduria, Cbla Type 30
2381 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 30
2382 P VNM004 Van Maldergem Syndrome 30
2383 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 30
2384 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
2385 c ELL005 Elliptocytosis 2 30
2386 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 30
2387 CYN002 Cyanosis, Transient Neonatal 30
2388 c CTR174 Cataract 40 30
2389 MYP097 Myopathy with Lactic Acidosis, Hereditary 30
2390 c RTN210 Retinitis Pigmentosa 50 30
2391 PHS023 Phosphoserine Aminotransferase Deficiency 30
2392 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
2393 c DYS139 Dyschromatosis Universalis Hereditaria 3 30
2394 c USH031 Usher Syndrome, Type Ij 30
2395 c HRM020 Hermansky-Pudlak Syndrome 10 30
2396 c RTN057 Retinitis Pigmentosa 29 30
2397 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 30
2398 c STC013 Stickler Syndrome, Type Ii 30
2399 BMB001 Bombay Phenotype 30
2400 STR099 Striatonigral Degeneration, Infantile, Mitochondrial 30
2401 IMM002 Immature Cataract 30
2402 24D001 2,4-Dienoyl-Coa Reductase Deficiency 30
2403 HYP823 Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 30
2404 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
2405 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 30
2406 c RTN171 Retinitis Pigmentosa 59 30
2407 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 30
2408 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 30
2409 c DSB005 Desbuquois Dysplasia 2 30
2410 c GLY017 Glycogen Storage Disease Ic 30
2411 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
2412 c OST120 Osteopetrosis, Autosomal Recessive 5 30
2413 c HYP577 Hypotrichosis 13 30
2414 DRR013 Diarrhea 8, Secretory Sodium, Congenital 30
2415 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 30
2416 c WLL037 Weill-Marchesani Syndrome 2 30
2417 c ATS210 Autosomal Recessive Sideroblastic Anemia 30
2418 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
2419 RBS005 Ribose 5-Phosphate Isomerase Deficiency 29
2420 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29
2421 c MCL043 Macular Degeneration, Age-Related, 2 29
2422 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29
2423 KYS001 Kyasanur Forest Disease 29
2424 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 29
2425 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
2426 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 29
2427 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
2428 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 29
2429 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
2430 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 29
2431 c JBR014 Joubert Syndrome 9 29
2432 ANH003 Anhaptoglobinemia 29
2433 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
2434 P TRG016 Trigonocephaly 1 29
2435 GLT028 Glutaric Aciduria Iii 29
2436 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
2437 c TYP035 Type 1 Diabetes Mellitus 11 29
2438 c PRX063 Peroxisome Biogenesis Disorder 2a 29
2439 STL007 Steel Syndrome 29
2440 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
2441 MCR183 Microcephaly-Capillary Malformation Syndrome 29
2442 c PRX050 Peroxisome Biogenesis Disorder 9b 29
2443 ACR004 Acrokeratosis Verruciformis 29
2444 HYP682 Hypertelorism, Teebi Type 29
2445 CDL005 Caudal Duplication Anomaly 29
2446 c PRX048 Peroxisome Biogenesis Disorder 10a 29
2447 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
2448 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 29
2449 PRP093 Pierpont Syndrome 29
2450 c USH030 Usher Syndrome, Type Ik 29
2451 c MCL059 Macular Dystrophy, Patterned, 1 29
2452 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
2453 GLT005 Glutamate Formiminotransferase Deficiency 29
2454 c INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 29
2455 TTT001 Tatton-Brown-Rahman Syndrome 29
2456 RNG003 Ring Dermoid of Cornea 29
2457 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 29
2458 CMP087 Complement Component 7 Deficiency 29
2459 c PLY149 Polydactyly, Preaxial Iv 29
2460 P ATX039 Ataxia-Pancytopenia Syndrome 29
2461 c OMD001 Omodysplasia 1 29
2462 c PLY136 Polydactyly, Preaxial I 29
2463 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
2464 HST022 Histiocytoma, Angiomatoid Fibrous 29
2465 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 29
2466 c LBR009 Leber Congenital Amaurosis 14 29
2467 c RTN036 Retinal Cone Dystrophy 4 29
2468 c ERL012 Early-Onset Glaucoma 29
2469 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 29
2470 CRB147 Cerebellofaciodental Syndrome 29
2471 c PRX051 Peroxisome Biogenesis Disorder 6a 29
2472 HYP267 Hyperchlorhidrosis, Isolated 29
2473 P OVR076 Ovarian Dysgenesis 2 29
2474 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 28
2475 c INF088 Inflammatory Bowel Disease 5 28
2476 PRK066 Parkinsonism with Spasticity, X-Linked 28
2477 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
2478 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 28
2479 c GLY043 Glycogen Storage Disease Xii 28
2480 c BRT039 Baraitser-Winter Syndrome 2 28
2481 c MCR252 Microphthalmia, Syndromic 5 28
2482 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
2483 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28
2484 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 28
2485 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 28
2486 c RTN032 Retinal Cone Dystrophy 1 28
2487 c PRX053 Peroxisome Biogenesis Disorder 14b 28
2488 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 28
2489 SPC026 Specific Granule Deficiency 1 28
2490 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
2491 c ANR046 Aniridia 3 28
2492 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 28
2493 c GLL040 Galloway-Mowat Syndrome 3 28
2494 c RTN106 Retinitis Pigmentosa 51 28
2495 c STS007 Sotos Syndrome 2 28
2496 HGH020 High Molecular Weight Kininogen Deficiency 28
2497 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
2498 c JVN047 Juvenile Spondyloarthropathy 28
2499 LSC003 Luscan-Lumish Syndrome 28
2500 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 28
2501 c ACQ047 Acquired Methemoglobinemia 28
2502 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
2503 c PRX054 Peroxisome Biogenesis Disorder 12a 28
2504 c RTN146 Retinitis Pigmentosa 62 28
2505 c FRN033 Frontonasal Dysplasia 2 28
2506 c ELL010 Elliptocytosis 1 28
2507 c RTN052 Retinitis Pigmentosa 23 28
2508 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 28
2509 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
2510 c RTN190 Retinitis Pigmentosa 76 28
2511 c TYP037 Type 1 Diabetes Mellitus 13 28
2512 c 46X049 46,xy Sex Reversal 2 28
2513 SLT005 Solitary Median Maxillary Central Incisor 28
2514 c SCH080 Schizophrenia 3 28
2515 P STR092 Striatal Degeneration, Autosomal Dominant 2 28
2516 c DMN017 Diamond-Blackfan Anemia 10 28
2517 LCT017 Lactate Dehydrogenase B Deficiency 28
2518 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 28
2519 c ATS307 Autosomal Recessive Cerebellar Ataxia 28
2520 CRD017 Cardiac Valvular Dysplasia, X-Linked 28
2521 WTT002 Witteveen-Kolk Syndrome