Genetic Diseases Category (7175 diseases)


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

# Family MCID Name MIFTS
1 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
2 P ERY058 Erythrocytosis, Familial, 1 55
3 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 50
4 AMY082 Amyloidosis, Familial Visceral 46
5 FML026 Familial Lipoprotein Lipase Deficiency 46
6 P FML018 Familial Mediterranean Fever 73
7 FML089 Familial Thoracic Aortic Aneurysm and Dissection 50
8 P MLT048 Multiple Familial Trichoepithelioma 30
9 P FML011 Familial Adenomatous Polyposis 71
10 P AMY004 Amyloidosis 68
11 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57
12 P SZR006 Seizure Disorder 56
13 c AMY009 Amyloidosis Aa 53
14 c SZR007 Seizures, Benign Familial Infantile, 3 46
15 c PRM150 Primary Localized Amyloidosis 19
16 c AHM002 Ah Amyloidosis 15
17 c SCN009 Scn1a-Related Seizure Disorders 8
18 c PRG126 Progressive Familial Heart Block 47
19 P HRT035 Heart Block, Congenital 46
20 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 43
21 P HYP607 Hypercholesterolemia, Familial 79
22 P CND004 Candidiasis 60
23 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59
24 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
25 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
26 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
27 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
28 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
29 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
30 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
31 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
32 c CND037 Candidiasis, Familial, 6 18
33 HYP190 Hypoalphalipoproteinemia, Primary 58
34 c SZR014 Seizures, Benign Familial Infantile, 1 24
35 c PRG042 Progressive Familial Heart Block, Type Ia 58
36 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
37 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
38 BNG006 Benign Familial Neonatal Epilepsy 36
39 P PLY018 Polycythemia 58
40 c PRM012 Primary Polycythemia 52
41 c ACQ010 Acquired Polycythemia 39
42 HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 23
43 c ATS209 Autosomal Dominant Secondary Polycythemia 16
44 c PLY005 Polycythemia Due to Hypoxia 6
45 c LPD015 Lipodystrophy, Familial Partial, Type 2 59
46 P PRT078 Partial Lipodystrophy 46
47 c LPD019 Lipodystrophy, Partial, Acquired 43
48 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
49 P BNG026 Benign Neonatal Seizures 37
50 FTL002 Fatal Familial Insomnia 49
51 P FML052 Familial Cold Autoinflammatory Syndrome 53
52 c MYC068 Myoclonic Epilepsy of Infancy 38
53 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 33
54 P EPS030 Episodic Kinesigenic Dyskinesia 1 33
55 P EPL198 Epilepsy, Myoclonic Juvenile 28
56 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 24
57 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
58 c EPL210 Epilepsy, Progressive Myoclonic, 6 24
59 c EPL155 Epilepsy, Progressive Myoclonic, 8 24
60 c EPL134 Epilepsy, Progressive Myoclonic 7 23
61 c EPS013 Episodic Kinesigenic Dyskinesia 2 23
62 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
63 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
64 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 19
65 c MYC086 Myoclonic Epilepsy, Juvenile 4 17
66 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
67 c PRG133 Progressive Myoclonic Epilepsy Type 5 14
68 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
69 c EPL217 Epilepsy, Juvenile Myoclonic 10 14
70 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
71 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 50
72 P ATT003 Attenuated Familial Adenomatous Polyposis 45
73 c HYP768 Hyperlipoproteinemia, Type I 36
74 c CND034 Candidiasis, Familial, 2 29
75 FML157 Familial Male-Limited Precocious Puberty 28
76 c HYP819 Hyperlipoproteinemia, Type Id 19
77 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
78 P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33
79 MTR030 Mitral Valve Prolapse, Familial, X-Linked 18
80 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 14
81 c HYP731 Hyperaldosteronism, Familial, Type I 56
82 P PTT006 Pituitary Adenoma 52
83 c PTT056 Pituitary Adenoma 1, Multiple Types 44
84 c PRG043 Progressive Familial Heart Block, Type Ib 41
85 c PTT060 Pituitary Adenoma 5, Multiple Types 16
86 c PTT061 Pituitary Adenoma 3, Multiple Types 14
87 c FML346 Familial Adenomatous Polyposis 1 62
88 PRD013 Periodic Fever, Familial, Autosomal Dominant 59
89 P HYP724 Hyperlipoproteinemia, Type Iii 58
90 c ALZ056 Alzheimer Disease 3 47
91 CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 34
92 c ALZ062 Alzheimer Disease 19 28
93 c ALZ015 Alzheimer Disease 6 23
94 c ALZ045 Alzheimer Disease 9 21
95 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
96 c ALZ060 Alzheimer Disease 14 19
97 c ALZ059 Alzheimer Disease 13 17
98 c ALZ032 Alzheimer Disease 18 17
99 c ALZ061 Alzheimer Disease 15 16
100 c ALZ031 Alzheimer Disease 17 15
101 c ALZ014 Alzheimer Disease 16 15
102 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
103 c FML012 Familial Partial Lipodystrophy 52
104 c FML023 Familial Hemiplegic Migraine 51
105 P HMP006 Hemiplegic Migraine 48
106 LRY047 Laryngeal Abductor Paralysis 23
107 CNV009 Convulsions Benign Familial Neonatal Dominant Form 17
108 P HYP069 Hyperparathyroidism 58
109 c HYP311 Hyperparathyroidism 3 40
110 c PRG101 Progressive Familial Heart Block, Type Ii 23
111 c HYP720 Hyperparathyroidism 4 16
112 P FML156 Familial Hyperaldosteronism 35
113 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
114 CYL004 Cylindromatosis, Familial 31
115 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
116 P NTR004 Neutropenia 60
117 c SVR003 Severe Congenital Neutropenia 58
118 EWN002 Ewing's Family of Tumors 56
119 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
120 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
121 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 31
122 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
123 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
124 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
125 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
126 TMP005 Temporal Epilepsy, Familial 18
127 c NTR045 Neutropenia, Chronic Familial 18
128 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
129 GNV002 Genu Valgum, St. Helena Familial 13
130 c ELN001 Elane-Related Neutropenia 7
131 PRC038 Precocious Puberty, Male-Limited 42
132 c MGR032 Migraine, Familial Hemiplegic, 1 37
133 FML063 Familial Glucocorticoid Deficiency 34
134 BKS003 Beukes Hip Dysplasia 30
135 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
136 c LPD034 Lipodystrophy, Familial Partial, Type 4 25
137 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 20
138 c SZR023 Seizures, Benign Familial Neonatal, 2 20
139 P EPL164 Epilepsy 69
140 P ATR011 Atrial Fibrillation 68
141 c FML001 Familial Atrial Fibrillation 54
142 P PRN026 Porencephaly 49
143 c BNG023 Benign Familial Infantile Epilepsy 42
144 c HYP243 Hyperparathyroidism 1 41
145 P FML043 Familial Idiopathic Basal Ganglia Calcification 41
146 c FML084 Familial Porencephaly 36
147 c ART028 Aortic Aneurysm, Familial Thoracic 4 27
148 c CND036 Candidiasis, Familial, 4 25
149 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 22
150 ACN018 Acne Inversa, Familial, 1 22
151 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
152 c PRN047 Porencephaly 2 19
153 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
154 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 14
155 c ACQ029 Acquired Porencephaly 13
156 c DPD002 Depdc5-Related Epilepsy 5
157 P ADV001 Advanced Sleep Phase Syndrome 36
158 IMM153 Immunodeficiency 51 20
159 MCR031 Macrocephaly, Benign Familial 15
160 P HYP818 Hypobetalipoproteinemia, Familial, 1 54
161 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
162 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 24
163 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 21
164 c HYP290 Hypobetalipoproteinemia, Familial, 2 20
165 c SZR016 Seizures, Benign Familial Infantile, 2 20
166 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 58
167 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 43
168 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
169 DYS182 Dysphasia, Familial Developmental 30
170 P FML168 Familial Isolated Pituitary Adenoma 27
171 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
172 c BRS088 Breast-Ovarian Cancer, Familial 3 21
173 c BRS098 Breast-Ovarian Cancer, Familial 4 17
174 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
175 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55
176 P TRT019 Torticollis 46
177 CPL013 Capillary Malformations, Congenital 39
178 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 35
179 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
180 c MTR080 Mitral Valve Prolapse 1 31
181 c HYP804 Hyperlipidemia, Combined, 1 31
182 c BNG079 Benign Adult Familial Myoclonic Epilepsy 30
183 P PRS124 Presynaptic Congenital Myasthenic Syndromes 28
184 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
185 c CNG129 Congenital Torticollis 22
186 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 22
187 c MTR083 Mitral Valve Prolapse 3 20
188 THM023 Thiemann Disease 20
189 CPP001 Copper Deficiency, Familial Benign 18
190 c MTR077 Mitral Valve Prolapse 2 18
191 CRN069 Corneal Hypesthesia, Familial 16
192 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
193 OSS006 Ossicular Malformations, Familial 11
194 FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
195 c TRT007 Torticollis, Familial 7
196 P HYP599 Hypoparathyroidism, Familial Isolated 37
197 c MGR030 Migraine, Familial Hemiplegic, 2 32
198 EXD009 Exudative Vitreoretinopathy 2, X-Linked 31
199 c SZR022 Seizures, Benign Familial Neonatal, 1 31
200 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
201 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
202 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 20
203 P PLR004 Pleuropulmonary Blastoma 59
204 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 59
205 P HYP614 Hyperlipidemia, Familial Combined 56
206 c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 56
207 P HYP050 Hyperinsulinemic Hypoglycemia 54
208 VTM028 Vitamin E, Familial Isolated Deficiency of 52
209 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 47
210 c BRS110 Breast-Ovarian Cancer, Familial 1 37
211 c MYC083 Myoclonic Epilepsy, Familial Infantile 30
212 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 29
213 c FML334 Familial Candidiasis 24
214 c BRS111 Breast-Ovarian Cancer, Familial 2 19
215 c PLR018 Pleuropulmonary Blastoma Type 1 10
216 c PLR019 Pleuropulmonary Blastoma Type 2 8
217 c PLR020 Pleuropulmonary Blastoma Type 3 8
218 P ART067 Aortic Aneurysm, Familial Thoracic 1 66
219 P EXD001 Exudative Vitreoretinopathy 50
220 P PSD003 Pseudohypoaldosteronism 47
221 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 46
222 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 44
223 P AMY084 Amyloidosis, Finnish Type 43
224 c PSD092 Pseudohypoaldosteronism, Type Iie 36
225 c FML117 Familial Cold Autoinflammatory Syndrome 2 34
226 EPL128 Epilepsy, Familial Temporal Lobe, 3 31
227 VNT032 Ventricular Tachycardia, Familial 26
228 c EXD004 Exudative Vitreoretinopathy 4 23
229 c EXD006 Exudative Vitreoretinopathy 5 19
230 c EXD010 Exudative Vitreoretinopathy 6 19
231 c PSD068 Pseudohypoaldosteronism, Type Iic 18
232 c EXD007 Exudative Vitreoretinopathy 3 18
233 c PSD094 Pseudohypoaldosteronism, Type Iib 18
234 c EXD012 Exudative Vitreoretinopathy 7 17
235 IMM172 Immunodeficiency 34 17
236 c TRN053 Transient Pseudohypoaldosteronism 16
237 DWR023 Dwarfism, Familial, with Muscle Spasms 15
238 c HRD010 Hereditary Spastic Paraplegia 67
239 c ART138 Aortic Aneurysm, Familial Abdominal, 1 64
240 c MNN043 Meningioma, Familial 60
241 P FBR031 Febrile Seizures 53
242 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
243 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
244 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
245 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
246 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
247 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 39
248 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
249 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
250 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
251 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
252 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 37
253 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
254 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
255 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
256 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 37
257 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
258 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
259 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36
260 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36
261 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
262 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
263 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
264 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 34
265 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 34
266 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
267 P BNG002 Benign Meningioma 34
268 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
269 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 33
270 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33
271 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
272 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33
273 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
274 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 33
275 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
276 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 32
277 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
278 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
279 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
280 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
281 c SPS031 Spastic Paraplegia 23 31
282 P SPS012 Spastic Paraplegia 3a 30
283 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
284 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
285 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
286 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
287 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
288 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
289 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
290 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 27
291 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
292 c HRD186 Hereditary Spastic Paraplegia 51 27
293 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 26
294 c SPS021 Spastic Paraplegia 10 26
295 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
296 c SPS092 Spastic Paraplegia 11 26
297 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 26
298 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
299 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
300 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 26
301 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
302 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
303 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
304 c SPS039 Spastic Paraplegia 5a 25
305 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 25
306 c SPS036 Spastic Paraplegia 3 23
307 c SPS025 Spastic Paraplegia 15 23
308 c FBR072 Febrile Seizures, Familial, 11 23
309 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
310 c CND025 Candidiasis, Familial, 8 22
311 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
312 c TRC095 Trichoepithelioma, Multiple Familial, 1 21
313 c SPS013 Spastic Paraplegia 8 20
314 c SPS020 Spastic Paraplegia 1 20
315 ACN016 Acne Inversa, Familial, 3 19
316 c HRD188 Hereditary Spastic Paraplegia 72 19
317 c SPS042 Spastic Paraplegia 9 19
318 c SPS037 Spastic Paraplegia 31 19
319 c SPS034 Spastic Paraplegia 26 18
320 c SPS027 Spastic Paraplegia 17 18
321 c SPS028 Spastic Paraplegia 18 17
322 c SPS023 Spastic Paraplegia 13 17
323 c SZR020 Seizures, Benign Familial Infantile, 5 17
324 c SPS080 Spastic Paraplegia 51 16
325 c SPS032 Spastic Paraplegia 24 15
326 c SPS033 Spastic Paraplegia 25 15
327 c SPS035 Spastic Paraplegia 29 15
328 c SPS022 Spastic Paraplegia 12 15
329 c SPS026 Spastic Paraplegia 16 14
330 c SPS161 Spastic Paraplegia 32 14
331 c SPS038 Spastic Paraplegia 39 14
332 c SPS029 Spastic Paraplegia 19 14
333 c SPS024 Spastic Paraplegia 14 12
334 c SPS040 Spastic Paraplegia 5b 11
335 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
336 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
337 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
338 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
339 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
340 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
341 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
342 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
343 P HYP040 Hypospadias 59
344 P PTY003 Pityriasis Rubra Pilaris 50
345 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 48
346 EPL115 Epilepsy, Familial Temporal Lobe, 2 34
347 P GLM015 Glomerulopathy with Fibronectin Deposits 2 30
348 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 28
349 ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 22
350 c FML347 Familial Adenomatous Polyposis 2 22
351 c CRD176 Cardiomyopathy, Familial Restrictive, 1 21
352 c ART105 Aortic Aneurysm, Familial Thoracic 7 19
353 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
354 c CRD098 Cardiomyopathy, Familial Restrictive, 3 16
355 c FML348 Familial Pityriasis Rubra Pilaris 13
356 c PST093 Posterior Hypospadias 12
357 c HYP545 Hypospadias 3, Autosomal 11
358 c PRM005 Primary Hyperparathyroidism 59
359 P SCK002 Sick Sinus Syndrome 53
360 c MYS051 Myasthenic Syndrome, Congenital, 5 47
361 P PLM025 Pulmonary Venoocclusive Disease 43
362 P OPT070 Optic Nerve Hypoplasia, Bilateral 43
363 c MYS078 Myasthenic Syndrome, Congenital, 14 40
364 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 39
365 c MYS052 Myasthenic Syndrome, Congenital, 10 37
366 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 35
367 FML307 Familial Calcium Pyrophosphate Deposition 33
368 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 33
369 c MYS075 Myasthenic Syndrome, Congenital, 13 32
370 c CRB051 Cerebral Cavernous Malformation, Familial 29
371 MYX012 Myxoma, Intracardiac 29
372 FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 26
373 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 25
374 c MYS067 Myasthenic Syndrome, Congenital, 22 24
375 c MYS076 Myasthenic Syndrome, Congenital, 8 23
376 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
377 c MYS074 Myasthenic Syndrome, Congenital, 12 23
378 c SCK017 Sick Sinus Syndrome 1 22
379 c MYS056 Myasthenic Syndrome, Congenital, 17 22
380 c MYS064 Myasthenic Syndrome, Congenital, 16 22
381 P HYD015 Hydroa Vacciniforme 22
382 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
383 c MYS070 Myasthenic Syndrome, Congenital, 19 21
384 IMM099 Immunodeficiency 33 21
385 c MYS065 Myasthenic Syndrome, Congenital, 18 21
386 c MYS077 Myasthenic Syndrome, Congenital, 15 19
387 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
388 OST150 Osteodysplasia, Familial, Anderson Type 17
389 c SCK022 Sick Sinus Syndrome 3 17
390 SHL003 Shoulder Girdle Defect Mental Retardation Familial 14
391 c FML309 Familial Infantile Bilateral Striatal Necrosis 13
392 c HYD016 Hydroa Vacciniforme, Familial 10
393 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 9
394 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 8
395 UMB003 Umbilicus, Familial Flat 8
396 P CSH002 Cushing Syndrome, Familial 7
397 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
398 c HMR010 Hemeralopia, Congenital Essential 4
399 P HMR011 Hemeralopia, Familial 3
400 c EXD008 Exudative Vitreoretinopathy 1 69
401 c LPM012 Lipomatosis, Multiple 58
402 P LPM005 Lipomatosis 50
403 c ERY048 Erythrocytosis, Familial, 2 47
404 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 46
405 FML036 Familial Periodic Paralysis 41
406 DSM003 Desmoid Disease, Hereditary 39
407 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 38
408 c CHR630 Chorea, Benign Hereditary 34
409 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33
410 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 29
411 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
412 c FML339 Familial Adenomatous Polyposis 4 21
413 c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21
414 ESN023 Eosinophilia, Familial 20
415 c EPS039 Episodic Pain Syndrome, Familial, 1 20
416 EPL150 Epilepsy, Familial Temporal Lobe, 7 19
417 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 19
418 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16
419 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13
420 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13
421 c ALZ049 Alzheimer Disease 2 59
422 STT041 Stuttering 53
423 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 45
424 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
425 ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 38
426 EPL114 Epilepsy, Familial Temporal Lobe, 1 38
427 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 37
428 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 35
429 c ART071 Aortic Aneurysm, Familial Thoracic 6 32
430 INT304 Interstitial Pneumonitis, Desquamative, Familial 31
431 CHR525 Chromosome Xq26.3 Duplication Syndrome 31
432 P PRD017 Periodic Paralyses 29
433 P FML313 Familial Progressive Hyperpigmentation 28
434 DCR009 Dicer1-Related Disorders 22
435 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22
436 c CND033 Candidiasis, Familial, 1 21
437 ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 19
438 c FML344 Familial Mediterranean Fever, Autosomal Dominant 19
439 EPL081 Epilepsy, Familial Temporal Lobe, 5 18
440 c FBR069 Febrile Seizures, Familial, 4 18
441 c ANT041 Antiphospholipid Syndrome, Familial 18
442 P FML048 Familial Avascular Necrosis of the Femoral Head 17
443 DSC014 Discoid Fibromas, Familial Multiple 17
444 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
445 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 16
446 EPL152 Epilepsy, Familial Temporal Lobe, 8 16
447 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
448 P XNC004 X Inactivation, Familial Skewed, 1 14
449 c FML159 Familial Periodic Paralyses 13
450 MLT051 Multiple Fibrofolliculoma Familial 6
451 P HLP001 Holoprosencephaly 66
452 P HYP802 Hypocalcemia, Autosomal Dominant 1 62
453 c HYP739 Hyperlipoproteinemia, Type Iv 50
454 c HRD039 Hereditary Amyloidosis 48
455 P FML035 Familial Hyperlipidemia 47
456 LYS019 Loeys-Dietz Syndrome 1 45
457 c HLP023 Holoprosencephaly 1 44
458 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
459 c HLP026 Holoprosencephaly 3 39
460 c HLP024 Holoprosencephaly 2 39
461 c HLP029 Holoprosencephaly 4 38
462 c ALZ050 Alzheimer Disease 5 37
463 LYS018 Loeys-Dietz Syndrome 2 35
464 c HYP396 Hypercholesterolemia, Autosomal Recessive 33
465 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 32
466 c HLP028 Holoprosencephaly 5 32
467 c HLP027 Holoprosencephaly 7 30
468 P HYP733 Hypercalciuria, Absorptive, 2 30
469 ASP026 Asplenia, Isolated Congenital 30
470 FML206 Familial Cerebral Saccular Aneurysm 26
471 c HLP025 Holoprosencephaly 9 25
472 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 24
473 P INT260 Intracranial Berry Aneurysm 24
474 c HLP016 Holoprosencephaly 11 24
475 c SCK014 Sick Sinus Syndrome 2 23
476 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
477 c HLP022 Holoprosencephaly 8 21
478 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
479 LNT008 Lentiginosis, Inherited Patterned 18
480 c CND027 Candidiasis, Familial, 3 16
481 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
482 GGN006 Gigantiform Cementoma, Familial 14
483 c FCL065 Facial Palsy, Familial Recurrent Peripheral 14
484 c SZR025 Seizures, Benign Familial Neonatal, 3 14
485 c NNS019 Nonsyndromic Holoprosencephaly 14
486 c FBR067 Febrile Seizures, Familial, 9 14
487 c HLP021 Holoprosencephaly 6 13
488 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13
489 c ANR011 Aneurysm, Intracranial Berry, 2 12
490 c SZR011 Seizures, Benign Familial Infantile, 4 12
491 c ANR028 Aneurysm, Intracranial Berry, 3 12
492 c ANR022 Aneurysm, Intracranial Berry, 4 12
493 c HYP809 Hypercalciuria, Absorptive, 1 12
494 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 11
495 c ART152 Aortic Aneurysm, Familial Abdominal, 3 10
496 c ANR029 Aneurysm, Intracranial Berry, 6 10
497 c ANR023 Aneurysm, Intracranial Berry, 7 10
498 c ANR030 Aneurysm, Intracranial Berry, 8 10
499 c ANR024 Aneurysm, Intracranial Berry, 9 10
500 c ANR026 Aneurysm, Intracranial Berry, 5 10
501 c ANR025 Aneurysm, Intracranial Berry, 10 10
502 c ANR039 Aneurysm, Intracranial Berry, 11 10
503 c FBR076 Febrile Seizures, Familial, 7 9
504 P RCR003 Recurrent Peripheral Facial Palsy 9
505 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 8
506 THR043 Thrombomodulin Anomalies, Familial 7
507 FML088 Familial Streblodactyly 6
508 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 4
509 c DYS165 Dysfibrinogenemia, Congenital 33
510 DYS140 Dyskinesia, Familial, with Facial Myokymia 25
511 DGT005 Digital Arthropathy-Brachydactyly, Familial 24
512 c FML299 Familial Adenomatous Polyposis 3 24
513 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 23
514 MYC066 Myoclonus, Familial Cortical 21
515 c ATR072 Atrial Fibrillation, Familial, 13 20
516 c FML270 Familial Cold Autoinflammatory Syndrome 4 19
517 c ATR059 Atrial Fibrillation, Familial, 11 18
518 c ATR069 Atrial Fibrillation, Familial, 12 18
519 c ATR068 Atrial Fibrillation, Familial, 14 17
520 c EPS028 Episodic Pain Syndrome, Familial, 3 16
521 c ERY032 Erythrocytosis, Familial, 4 15
522 P PRK057 Parkinson Disease, Late-Onset 76
523 P CRY007 Cryoglobulinemia, Familial Mixed 54
524 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 52
525 c ALZ054 Alzheimer Disease 4 41
526 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 41
527 c ERL056 Early-Onset Parkinson's Disease 40
528 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 39
529 c TYP024 Type Ii Mixed Cryoglobulinemia 35
530 ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 35
531 c PRK025 Parkinson Disease 10 35
532 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 33
533 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 32
534 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
535 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
536 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 28
537 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
538 P HYP078 Hypertrophy of Breast 27
539 c PRK093 Parkinson Disease 8, Autosomal Dominant 27
540 CD8002 Cd8 Deficiency, Familial 25
541 c PRK065 Parkinson Disease 20, Early-Onset 25
542 c HRD173 Hereditary Late-Onset Parkinson Disease 25
543 c PSD093 Pseudohypoaldosteronism, Type Iid 24
544 P TTH010 Tooth Agenesis, Selective, 1 24
545 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
546 HYP344 Hyperthyroidism, Familial Gestational 23
547 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
548 c PRK052 Parkinson Disease 17 22
549 c PRK070 Parkinson Disease 21 22
550 c TTH013 Tooth Agenesis, Selective, 4 22
551 c JVN058 Juvenile-Onset Parkinson's Disease 21
552 HYP279 Hypercholanemia, Familial 21
553 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
554 EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 21
555 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
556 CLL041 Collagenoma, Familial Cutaneous 21
557 GLC043 Glucocorticoid Deficiency 2 21
558 c PRK008 Parkinson Disease Type 9 20
559 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
560 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
561 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
562 c ART118 Aortic Aneurysm, Familial Thoracic 9 19
563 c ATR035 Atrial Fibrillation, Familial, 6 19
564 c CND031 Candidiasis, Familial, 9 19
565 c ATR061 Atrial Fibrillation, Familial, 10 19
566 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
567 c ATR037 Atrial Fibrillation, Familial, 7 18
568 c ATR092 Atrial Fibrillation, Familial, 15 18
569 c HYP678 Hypertrophy of the Breast, Juvenile 18
570 c PRK022 Parkinson Disease 12 17
571 c ART133 Aortic Aneurysm, Familial Thoracic 11 17
572 c ATR039 Atrial Fibrillation, Familial, 4 17
573 c ATR085 Atrial Fibrillation, Familial, 18 17
574 c ATR038 Atrial Fibrillation, Familial, 3 17
575 c TTH012 Tooth Agenesis, Selective, 3 17
576 c ART107 Aortic Aneurysm, Familial Thoracic 8 17
577 c ERY031 Erythrocytosis, Familial, 3 17
578 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 17
579 GLC053 Glucocorticoid Deficiency 3 16
580 c PRK083 Parkinson Disease 22, Autosomal Dominant 16
581 c TTH011 Tooth Agenesis, Selective, 2 16
582 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
583 c LRR001 Lrrk2-Related Parkinson Disease 16
584 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
585 c TTH027 Tooth Agenesis, Selective, 8 15
586 c ATR070 Atrial Fibrillation, Familial, 9 15
587 c TTH025 Tooth Agenesis, Selective, 9 14
588 c TTH026 Tooth Agenesis, Selective, 7 14
589 c TTH017 Tooth Agenesis, Selective, 5 14
590 c ERY063 Erythrocytosis, Familial, 5 13
591 c PRK058 Parkinson Disease 16 13
592 c MXD037 Mixed Cryoglobulinemia Type Iii 12
593 c HYP333 Hyperlipidemia, Combined, 2 11
594 c XNC002 X Inactivation, Familial Skewed, 2 11
595 c VPS003 Vps35-Related Parkinson Disease 8
596 FML160 Familial Spastic Paralysis 6
597 c SYS001 Systemic Lupus Erythematosus 86
598 c CHR089 Chronic Kidney Failure 72
599 P PLM036 Pulmonary Fibrosis 69
600 P LPS004 Lupus Erythematosus 68
601 P KDN018 Kidney Disease 68
602 c MLT160 Multiple Endocrine Neoplasia, Type Iia 65
603 c WLM013 Wilms Tumor 1 64
604 P MYS005 Myositis 63
605 HYP020 Hyperprolactinemia 63
606 P HMN010 Hemangioma 60
607 c AFB002 Afibrinogenemia, Congenital 60
608 c WLM018 Wilms Tumor 5 60
609 P OVR049 Ovarian Disease 59
610 c MLT159 Multiple Endocrine Neoplasia, Type Iib 58
611 P KDN017 Kidney Cancer 58
612 c VSC019 Vesicoureteral Reflux 1 57
613 P MLT074 Multiple Endocrine Neoplasia 55
614 c ACT071 Acute Kidney Failure 54
615 c MLT086 Multiple Endocrine Neoplasia, Type Iv 52
616 P OTS001 Otosclerosis 52
617 P AFB001 Afibrinogenemia 49
618 HRT015 Heritable Pulmonary Arterial Hypertension 48
619 ACH015 Achalasia, Familial Esophageal 39
620 PRM237 Primary Hypomagnesemia 39
621 c WLM011 Wilms Tumor 6 38
622 DSQ001 Desquamative Interstitial Pneumonia 38
623 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 38
624 c MYG007 Myoglobinuria, Recurrent 38
625 P MYG005 Myoglobinuria 37
626 c FML297 Familial Thyroid Dyshormonogenesis 37
627 P HRD009 Hereditary Wilms' Tumor 36
628 P LTT001 Lattice Corneal Dystrophy 35
629 c SYS061 Systemic Lupus Erythematosus 16 35
630 FML304 Familial Isolated Dilated Cardiomyopathy 35
631 FBR089 Fibrosclerosis, Multifocal 34
632 PSD021 Pseudovaginal Perineoscrotal Hypospadias 34
633 c PRP091 Porphyria Cutanea Tarda, Type I 33
634 c CRN236 Corneal Dystrophy, Lattice Type I 33
635 c PSD090 Pseudohypoaldosteronism, Type Iia 32
636 FML264 Familial Bicuspid Aortic Valve 32
637 c KDN016 Kidney Benign Neoplasm 31
638 c PRV019 Periventricular Nodular Heterotopia 1 30
639 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 30
640 HYP249 Hyperthyroidism, Nonautoimmune 29
641 P FML284 Familial Vesicoureteral Reflux 29
642 c PMP006 Pemphigus Vulgaris, Familial 28
643 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 27
644 c HYP699 Hyperekplexia 1 26
645 P HRD084 Hereditary Cerebral Amyloid Angiopathy 26
646 c OTS005 Otosclerosis 1 26
647 c FML272 Familial Sick Sinus Syndrome 25
648 c SYS043 Systemic Lupus Erythematosus 1 25
649 SHR108 Short Stature, Idiopathic, X-Linked 25
650 HYP677 Hyperthyroxinemia, Familial Dysalbuminemic 25
651 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 25
652 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 25
653 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
654 P THY061 Thyroid Dyshormonogenesis 2a 24
655 EDC001 Edict Syndrome 24
656 c ALZ016 Alzheimer Disease 8 23
657 c THY071 Thyroid Dyshormonogenesis 1 23
658 CRT040 Corticosterone Methyloxidase Type Ii Deficiency 23
659 c FML324 Familial Porphyria Cutanea Tarda 22
660 FLR007 Failure of Tooth Eruption, Primary 22
661 FCT029 Factor V and Factor Viii, Combined Deficiency of, 1 22
662 c LTT008 Lattice Corneal Dystrophy Type Ii 22
663 VLV047 Volvulus of Midgut 21
664 c THY063 Thyroid Dyshormonogenesis 4 21
665 c SYS038 Systemic Lupus Erythematosus 2 21
666 FML293 Familial Isolated Restrictive Cardiomyopathy 21
667 c PRV018 Periventricular Nodular Heterotopia 7 21
668 c ALZ057 Alzheimer Disease 10 20
669 c THY056 Thyroid Dyshormonogenesis 3 20
670 c ALZ012 Alzheimer Disease 12 20
671 c FBR073 Febrile Seizures, Familial, 1 20
672 c ALZ053 Alzheimer Disease 7 20
673 c HYP510 Hyperekplexia 2 20
674 c WLM005 Wilms Tumor 2 19
675 c PRV016 Periventricular Nodular Heterotopia 6 19
676 EPL113 Epilepsy, Familial Temporal Lobe, 4 19
677 c VSC046 Vesicoureteral Reflux 8 19
678 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
679 c THY062 Thyroid Dyshormonogenesis 5 18
680 c THY110 Thyroid Dyshormonogenesis 6 18
681 c HYP519 Hyperekplexia 3 18
682 c SYS046 Systemic Lupus Erythematosus 3 18
683 P FML340 Familial Episodic Pain Syndrome 18
684 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
685 c WLM017 Wilms Tumor 4 17
686 ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 17
687 c SYS069 Systemic Lupus Erythematosus 6 17
688 c SYS053 Systemic Lupus Erythematosus 5 17
689 FML325 Familial Cervical Artery Dissection 17
690 c VSC025 Vesicoureteral Reflux 3 17
691 MGR036 Migraine with or Without Aura 2 16
692 ANG063 Angiolipomatosis, Familial 16
693 c PLM044 Pulmonary Fibrosis, Familial 16
694 c ACQ004 Acquired Hemangioma 15
695 c WLM015 Wilms Tumor 3 15
696 ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 15
697 c HYP825 Hyperekplexia 4 15
698 c SYS041 Systemic Lupus Erythematosus 9 15
699 c SYS040 Systemic Lupus Erythematosus 10 15
700 c OTS007 Otosclerosis 3 15
701 c VSC020 Vesicoureteral Reflux 2 14
702 c OTS012 Otosclerosis 10 14
703 c SYS065 Systemic Lupus Erythematosus 11 14
704 c MYG006 Myoglobinuria, Autosomal Dominant 14
705 c FBR074 Febrile Seizures, Familial, 6 14
706 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
707 c FBR071 Febrile Seizures, Familial, 5 14
708 c FBR075 Febrile Seizures, Familial, 2 14
709 c SYS055 Systemic Lupus Erythematosus 12 13
710 c OTS010 Otosclerosis 7 13
711 c MLG144 Malignant Hemangioma 13
712 c SPR097 Sporadic Hyperekplexia 13
713 c SYS051 Systemic Lupus Erythematosus 4 13
714 c SYS047 Systemic Lupus Erythematosus 7 13
715 c FBR068 Febrile Seizures, Familial, 10 13
716 STL002 Stalker Chitayat Syndrome 13
717 ERY057 Erythema Nodosum, Familial 13
718 c BCT018 Bacterial Myositis 13
719 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 13
720 DGH001 Doughnut Lesions of Skull, Familial 13
721 c OTS011 Otosclerosis 8 13
722 c VRL025 Viral Myositis 12
723 c OTS008 Otosclerosis 4 12
724 c ART151 Aortic Aneurysm, Familial Abdominal, 2 12
725 CMD004 Comedones, Familial Dyskeratotic 12
726 c RNL016 Renal Infectious Disease 11
727 c SYS048 Systemic Lupus Erythematosus 8 11
728 c SYS052 Systemic Lupus Erythematosus 13 11
729 c SYS045 Systemic Lupus Erythematosus 14 11
730 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 11
731 EPL124 Epilepsy, Familial Temporal Lobe, 6 11
732 c SYS067 Systemic Lupus Erythematosus 15 10
733 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
734 NGY001 Nguyen Syndrome 10
735 IMM016 Immune Deficiency, Familial Variable 10
736 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 10
737 c OTS006 Otosclerosis 2 10
738 c OTS009 Otosclerosis 5 10
739 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 10
740 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 9
741 c VSC040 Vesicoureteral Reflux 4 9
742 c VSC042 Vesicoureteral Reflux 5 9
743 c VSC043 Vesicoureteral Reflux 6 9
744 c VSC041 Vesicoureteral Reflux 7 9
745 c ADV008 Advanced Sleep Phase Syndrome 2 9
746 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 9
747 c RNR002 Ren-Related Kidney Disease 9
748 P STT036 Stuttering, Familial Persistent, 3 8
749 c STT039 Stuttering, Familial Persistent, 4 8
750 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 8
751 c KDN012 Kidney Carcinoma in Situ 7
752 c OTS004 Otosclerosis, Familial 6
753 c RNL033 Renal Carcinoma, Familial 5
754 c FML158 Familial Hemangioma 5
755 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
756 c OVR071 Ovarian Insufficiency, Familial 5
757 c LCL003 Localized Pulmonary Fibrosis 5
758 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
759 c SZR003 Seizures Benign Familial Neonatal Recessive Form 3
760 c MYG002 Myoglobinuria Dominant Form 3
761 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
762 ANT031 Anterior Pituitary Insufficiency, Familial 3
763 HYP197 Hypofibrinogenemia, Familial 3
764 FML082 Familial Partial Paralysis 3
765 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
766 NPH022 Nephropathy Familial with Hyperuricemia 3
767 EPL014 Epilepsy, Partial, Familial 2
768 DST014 Distal Primary Acidosis, Familial 2
769 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 2
770 HYP177 Hypertensive Hypokalemia Familial 2
771 PLM055 Pulmonary Artery Familial Dilatation 2
772 PLM063 Pulmonary Hypoplasia Familial Primary 2
773 RGH002 Right Atrium Familial Dilatation 2
774 NSL012 Nasal Polyposis, Familial 2
775 ACT164 Actinic Prurigo 48
776 P HYP750 Hypertriglyceridemia, Familial 44
777 c HYP555 Hypertriglyceridemia, Transient Infantile 31
778 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 20
779 c EPS027 Episodic Pain Syndrome, Familial, 2 17
780 c EPL187 Epilepsy, Familial Focal, with Variable Foci 2 17
781 c EPL192 Epilepsy, Familial Focal, with Variable Foci 3 16
782 P GLL022 Guillain-Barre Syndrome 60
783 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
784 P BRG001 Brugada Syndrome 60
785 c BRG005 Brugada Syndrome 1 46
786 FML091 Familial Tumoral Calcinosis 46
787 P ACQ022 Acquired Generalized Lipodystrophy 44
788 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 35
789 P VRT013 Vertigo, Benign Recurrent 33
790 c BRG007 Brugada Syndrome 5 32
791 LCR013 Lacrimal Duct Defect 32
792 ATS009 Autosomal Genetic Disease 30
793 c BRG006 Brugada Syndrome 2 26
794 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 25
795 c GLL037 Guillain-Barre Syndrome, Familial 25
796 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 22
797 c BRG010 Brugada Syndrome 8 22
798 c ART134 Aortic Aneurysm, Familial Thoracic 10 22
799 c BRG012 Brugada Syndrome 9 21
800 c BRG003 Brugada Syndrome 3 21
801 c BRG009 Brugada Syndrome 7 20
802 PPL052 Papillomatosis, Confluent and Reticulated 19
803 c BRG004 Brugada Syndrome 4 18
804 c BRG008 Brugada Syndrome 6 17
805 c HYP563 Hyperpigmentation, Familial Progressive, 1 15
806 CRR016 Cirrhosis, Familial 14
807 GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 13
808 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 11
809 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 11
810 c ERY064 Erythrocytosis, Familial, 6 11
811 c ERY065 Erythrocytosis, Familial, 7 11
812 c VRT008 Vertigo, Benign Recurrent, 2 7
813 c FML226 Familial Dupuytren Contracture 3
814 P CLR023 Colorectal Cancer 97
815 c HYP595 Hypertension, Essential 76
816 P RTN024 Retinoblastoma 70
817 P MYL005 Myelofibrosis 70
818 P CRN037 Craniosynostosis 67
819 c THR092 Thrombophilia Due to Thrombin Defect 67
820 P DYS154 Dystonia 64
821 OVR029 Ovarian Hyperstimulation Syndrome 64
822 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
823 P HYP083 Hypopituitarism 58
824 P THR015 Thrombophilia 57
825 P LCH002 Lichen Planus 57
826 P ACT008 Actinic Keratosis 54
827 HMZ003 Homozygous Familial Hypercholesterolemia 54
828 TTH002 Tooth Agenesis 53
829 P LFT003 Left Ventricular Noncompaction 52
830 P OBS001 Obstructive Jaundice 52
831 P DPY001 Dupuytren Contracture 51
832 VTM027 Vitamin D-Dependent Rickets, Type 2a 51
833 P SHR029 Short Syndrome 51
834 HYP732 Hyperalphalipoproteinemia 1 50
835 P SYR001 Syringomyelia 50
836 MCL027 Macular Dystrophy, Dominant Cystoid 50
837 P KRT005 Keratoacanthoma 49
838 P RNL017 Renal Oncocytoma 48
839 c MLG069 Malignant Hypertension 48
840 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
841 P BND018 Band Heterotopia 46
842 c THR082 Thrombophilia Due to Activated Protein C Resistance 46
843 P CLS010 Cluster Headache 46
844 BNG009 Benign Epilepsy with Centrotemporal Spikes 45
845 c CHL140 Chilblain Lupus 1 44
846 c SHR030 Short Qt Syndrome 43
847 c ANT077 Anterior Segment Dysgenesis 1 42
848 P HMF004 Hemifacial Spasm 41
849 P ORF002 Orofacial Cleft 41
850 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
851 c PRN053 Porencephaly 1 41
852 BRR012 Berardinelli-Seip Congenital Lipodystrophy 40
853 c DYS146 Dystonia 24 40
854 P HYP120 Hypoaldosteronism 40
855 P INT080 Intraocular Melanoma 40
856 P HRD086 Hereditary Hypophosphatemic Rickets 39
857 c CRN278 Craniosynostosis 1 39
858 P GLM006 Glomangioma 38
859 c ERL006 Early-Onset Familial Alzheimer Disease 38
860 c MNS014 Monosomy 22 37
861 c ANT071 Anterior Segment Dysgenesis 4 37
862 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 36
863 PDT014 Pediatric Ependymoma 36
864 c SPR083 Sporadic Hemiplegic Migraine 36
865 c CLR085 Colorectal Cancer 1 35
866 SPN354 Spinal Arachnoiditis 35
867 c ANT086 Anterior Segment Dysgenesis 2 34
868 c FML008 Familial Retinoblastoma 34
869 NND010 Nondisjunction 34
870 c FML294 Familial Short Qt Syndrome 33
871 c DYS119 Dystonia 9 33
872 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 32
873 P FML187 Familial Hypertension 31
874 c FML311 Familial Colorectal Cancer Type X 31
875 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 29
876 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 29
877 P MDL008 Medullary Cystic Kidney Disease 1 29
878 c HRD198 Hereditary Dystonia 29
879 c CRN277 Craniosynostosis 2 28
880 FML292 Familial Drusen 28
881 P CRY006 Cryofibrinogenemia 28
882 c FML306 Familial or Sporadic Hemiplegic Migraine 27
883 c MLG039 Malignant Essential Hypertension 27
884 IDP085 Idiopathic Infantile Hypercalcemia 27
885 c CLR080 Colorectal Cancer 5 27
886 c LFT021 Left Ventricular Noncompaction 1 27
887 c ANT084 Anterior Segment Dysgenesis 3 27
888 c DYS162 Dystonia, Juvenile-Onset 27
889 c BNG021 Benign Essential Hypertension 27
890 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 26
891 c DYS059 Dystonia 16 26
892 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 26
893 c CLR077 Colorectal Cancer 10 26
894 c CRN217 Craniosynostosis 3 25
895 c ALZ002 Alzheimer Disease Type 1 25
896 c CRN281 Craniosynostosis 7 25
897 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 25
898 c MLG080 Malignant Secondary Hypertension 24
899 c ANT085 Anterior Segment Dysgenesis 5 24
900 c ANT083 Anterior Segment Dysgenesis 7 24
901 PTR030 Pterygium of Conjunctiva and Cornea 24
902 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 24
903 LRY046 Laryngeal Web, Familial 23
904 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 23
905 P FML305 Familial Abdominal Aortic Aneurysm 23
906 c DYS145 Dystonia 23 22
907 c CRN221 Craniosynostosis 4 22
908 c SHR032 Short Qt Syndrome 2 22
909 c CRN216 Craniosynostosis 5 22
910 c ART068 Aortic Aneurysm, Familial Thoracic 2 22
911 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
912 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
913 c DYS151 Dystonia 25 22
914 c MNS008 Monosomy 21 22
915 c CLR087 Colorectal Cancer 12 21
916 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 21
917 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
918 c FML223 Familial Keratoacanthoma 21
919 c SCN048 Secondary Syringomyelia 21
920 P MNS011 Monosomy 9q22.3 21
921 c CLR075 Colorectal Cancer 3 21
922 c DYS138 Dystonia 21 21
923 c CRN256 Craniosynostosis 6 21
924 P ACT232 Acute Necrotizing Encephalopathy 21
925 c LFT017 Left Ventricular Noncompaction 8 21
926 DRM041 Dermoid Cysts, Familial Frontonasal 21
927 c ORF027 Orofacial Cleft 11 21
928 P FML337 Familial Chilblain Lupus 20
929 c MDL021 Medullary Cystic Kidney Disease 2 20
930 P CNG070 Congenital Dislocation of the Patella 20
931 c DYS172 Dystonia 27 20
932 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
933 c SHR031 Short Qt Syndrome 1 20
934 PRT112 Portal Hypertension, Noncirrhotic 20
935 c SHR033 Short Qt Syndrome 3 20
936 c GNS004 Geniospasm 1 19
937 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 19
938 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
939 c ATR026 Atrial Fibrillation, Familial, 1 19
940 c HYP376 Hypouricemia, Renal, 2 19
941 c CLR079 Colorectal Cancer 2 18
942 CRT064 Corticosterone Methyloxidase Deficiency 18
943 c LFT018 Left Ventricular Noncompaction 10 18
944 c ANT087 Anterior Segment Dysgenesis 6 18
945 c ANT067 Anterior Segment Dysgenesis 8 18
946 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
947 c ORF047 Orofacial Cleft 15 18
948 c HMF011 Hemifacial Spasm, Familial 18
949 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 17
950 c ORF048 Orofacial Cleft 1 17
951 c FML268 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 17
952 c FML028 Familial Renal Oncocytoma 17
953 c ORF049 Orofacial Cleft 3 17
954 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 17
955 c ALZ058 Alzheimer Disease 11 17
956 c CHL114 Chilblain Lupus 2 17
957 ZNC006 Zinc, Elevated Plasma 17
958 c FML267 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 16
959 c ORF050 Orofacial Cleft 2 16
960 c THR023 Thrombophilia Due to Thrombomodulin Defect 16
961 c ORF031 Orofacial Cleft 14 16
962 c LFT020 Left Ventricular Noncompaction 7 16
963 c ORF014 Orofacial Cleft 5 16
964 c ORF025 Orofacial Cleft 6 16
965 PRP095 Priapism, Familial Idiopathic 15
966 c ORF028 Orofacial Cleft 10 15
967 MGR033 Migraine with or Without Aura 6 15
968 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
969 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
970 c CLS053 Cluster Headache, Familial 14
971 c ATR027 Atrial Fibrillation, Familial, 5 14
972 c ORF020 Orofacial Cleft 12 14
973 c ACT229 Acute Necrotizing Encephalopathy Type 1 14
974 c CLR083 Colorectal Cancer 8 14
975 c ANR027 Aneurysm, Intracranial Berry, 1 14
976 c CLR082 Colorectal Cancer 7 13
977 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 13
978 c ORF023 Orofacial Cleft 4 13
979 c PRT045 Prothrombin-Related Thrombophilia 13
980 c ATR025 Atrial Fibrillation, Familial, 2 13
981 c CLR081 Colorectal Cancer 6 13
982 c FML275 Familial Hypoaldosteronism 13
983 P SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 13
984 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
985 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 12
986 c ATR028 Atrial Fibrillation, Familial, 8 12
987 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 12
988 c FML258 Familial Acute Necrotizing Encephalopathy 12
989 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
990 FML202 Familial Alzheimer-Like Prion Disease 12
991 c ORF029 Orofacial Cleft 13 11
992 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 11
993 c HYP452 Hypertension, Essential 6 11
994 c CLR084 Colorectal Cancer 9 11
995 c CLR078 Colorectal Cancer 11 11
996 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 11
997 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
998 c FML025 Familial Glomangioma 11
999 c FML255 Familial Syringomyelia 11
1000 c ORF024 Orofacial Cleft 9 11
1001 c EPL220 Epilepsy, Familial Focal, with Variable Foci 4 11
1002 P HRD194 Hereditary Geniospasm 11
1003 c KRT070 Keratosis, Familial Actinic 11
1004 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 11
1005 c PRM168 Primary Syringomyelia 11
1006 c HYP449 Hypertension, Essential 3 11
1007 c HYP450 Hypertension, Essential 4 11
1008 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
1009 c LCH017 Lichen Planus, Familial 11
1010 P CHR636 Chorea, Benign Familial 11
1011 FML079 Familial Nasal Acilia 11
1012 c FML230 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 10
1013 CHR631 Choreoathetosis, Familial Inverted 10
1014 c HYP451 Hypertension, Essential 5 10
1015 c LFT011 Left Ventricular Noncompaction 2 10
1016 CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 10
1017 OPH016 Ophthalmoplegia, Familial Static 10
1018 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 10
1019 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
1020 EDM003 Edema, Familial Idiopathic, Prepubertal 10
1021 c HYP447 Hypertension, Essential 1 10
1022 c HYP448 Hypertension, Essential 2 10
1023 c HYP453 Hypertension, Essential 7 10
1024 c HYP454 Hypertension, Essential 8 10
1025 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 10
1026 CRD227 Cardiac Lipidosis, Familial 10
1027 c PTL011 Patella, Familial Recurrent Dislocation of 10
1028 c CRY033 Cryofibrinogenemia, Familial Primary 9
1029 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
1030 c MRL006 Meralgia Paraesthetica, Familial 9
1031 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 9
1032 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1033 HST021 Histiocytosis, Familial Lipochrome 9
1034 CNC019 Cancer, Familial, with in Vitro Radioresistance 9
1035 ALP096 Alopecia, Familial Focal 9
1036 FML336 Familial Patent Arterial Duct 9
1037 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
1038 c JND003 Jaundice, Familial Obstructive, of Infancy 9
1039 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 9
1040 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1041 LGL002 Leg Ulcers, Familial, of Juvenile Onset 9
1042 c KMT002 Kmt2b-Related Dystonia 8
1043 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 8
1044 c FML072 Familial Hypopituitarism 8
1045 LMB070 Lumbar Stenosis, Familial 8
1046 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
1047 MSC143 Muscle Cramps, Familial 8
1048 c MLN068 Melanoma, Malignant Familial Intraocular 8
1049 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 8
1050 NSL026 Nasal Hyperpigmentation, Familial Transverse 8
1051 STT047 Setting-Sun Phenomenon, Familial Benign 8
1052 MCR339 Macrocytosis, Familial 7
1053 STR098 Striae Distensae, Familial 7
1054 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
1055 NSL025 Nasal Groove, Familial Transverse 7
1056 AZT005 Azotemia, Familial 7
1057 BND019 Bundle Branch Block, Familial Isolated Complete Right 7
1058 CRM011 Cramps, Familial Adolescent 7
1059 URT053 Urticaria, Familial Localized Heat 7
1060 FVR001 Fever, Familial Lifelong Persistent 7
1061 BRD052 Broad Terminal Phalanges, Familial 7
1062 c BNG034 Benign Secondary Hypertension 7
1063 c FML078 Familial Myelofibrosis 7
1064 CRY034 Cryptotia, Familial 6
1065 INS028 Insulin Receptors, Familial Increase in 6
1066 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1067 PCH021 Pachydermodactyly, Familial 6
1068 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 6
1069 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 6
1070 PNC125 Pancreatic Lymphoma, Familial 6
1071 c RRL001 Rare Lichen Planus 5
1072 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1073 OST166 Osteoma of Cranial Vault, Familial 5
1074 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 5
1075 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 5
1076 P SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
1077 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 5
1078 c CRN093 Craniosynostosis Autosomal Dominant 5
1079 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1080 FML216 Familial Isolated Clinodactyly of Fingers 4
1081 BLN022 Blue Nevi, Familial Multiple 4
1082 BRC118 Brachial Palsy, Familial Congenital 4
1083 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
1084 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
1085 P SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
1086 c FML317 Familial Monosomy 7 Syndrome 4
1087 c FML049 Familial Band Heterotopia 4
1088 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
1089 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
1090 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 2
1091 FML074 Familial Interstitial Fibrosis 2
1092 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
1093 STR067 Stroke, Ischemic 82
1094 P RTN008 Retinitis Pigmentosa 81
1095 P MYC007 Myocardial Infarction 79
1096 P HPT021 Hepatitis 76
1097 P INF038 Influenza 76
1098 P PLM037 Pulmonary Hypertension 75
1099 P HRT032 Heart Disease 74
1100 KPS004 Kaposi Sarcoma 73
1101 c HPT073 Hepatitis C Virus 72
1102 P GRF003 Graft-Versus-Host Disease 71
1103 c HPT001 Hepatitis C 71
1104 c PRM196 Premature Ovarian Failure 1 71
1105 P ATS364 Autism 70
1106 P AGM001 Agammaglobulinemia 69
1107 P DMN001 Diamond-Blackfan Anemia 69
1108 P HYD006 Hydrocephalus 69
1109 P CRN018 Coronary Artery Anomaly 68
1110 c DNG003 Dengue Disease 68
1111 P CWD001 Cowden Disease 67
1112 P DYS007 Dyskeratosis Congenita 67
1113 c HPT016 Hepatitis B 67
1114 P ATT013 Attention Deficit-Hyperactivity Disorder 66
1115 P PSR002 Psoriasis 65
1116 P DBT085 Diabetes Mellitus, Insulin-Dependent 65
1117 PSR001 Psoriatic Arthritis 65
1118 P LNG028 Long Qt Syndrome 65
1119 P CHR071 Charcot-Marie-Tooth Disease 65
1120 c CRN300 Coronary Heart Disease 1 64
1121 c CHR417 Chronic Graft Versus Host Disease 64
1122 P CRN015 Cornelia De Lange Syndrome 64
1123 P LBR001 Leber Congenital Amaurosis 64
1124 P GLL020 Gallbladder Disease 64
1125 P CCK001 Cockayne Syndrome 63
1126 HLC007 Helicobacter Pylori Infection 63
1127 P NRC002 Narcolepsy 63
1128 c DPH024 Diaphragmatic Hernia, Congenital 63
1129 P ENC018 Encephalopathy 62
1130 P CTS001 Cutis Laxa 62
1131 c ATM011 Autoimmune Hepatitis 62
1132 P BRD002 Bardet-Biedl Syndrome 62
1133 P HRM001 Hermansky-Pudlak Syndrome 62
1134 P HYP055 Hypoplastic Left Heart Syndrome 62
1135 P GLY013 Glycogen Storage Disease 61
1136 c ART115 Aortic Valve Disease 1 61
1137 P WLF004 Wolfram Syndrome 61
1138 c ATS007 Autism Spectrum Disorder 61
1139 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1140 VTR013 Vitreoretinopathy, Neovascular Inflammatory 61
1141 c HPT003 Hepatitis a 61
1142 TBC004 Tobacco Addiction 60
1143 P PLY014 Polycystic Kidney Disease 60
1144 P MTR004 Maturity-Onset Diabetes of the Young 60
1145 c ATS347 Autosomal Dominant Polycystic Kidney Disease 60
1146 c MCP001 Mucopolysaccharidosis Iii 60
1147 P CTR002 Cataract 60
1148 P FCL005 Focal Segmental Glomerulosclerosis 59
1149 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59
1150 P STR022 Stargardt Disease 59
1151 P CRD132 Cardiac Conduction Defect 59
1152 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 59
1153 c VRL010 Viral Hepatitis 59
1154 c MCP004 Mucopolysaccharidosis Iv 59
1155 P VNT002 Ventricular Septal Defect 58
1156 P OCL002 Oculocutaneous Albinism 58
1157 P USH001 Usher Syndrome 58
1158 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 58
1159 P CFF008 Coffin-Siris Syndrome 1 58
1160 P MSC007 Muscle Hypertrophy 58
1161 c ACT075 Acute Myocardial Infarction 58
1162 P TWN003 Townes-Brocks Syndrome 58
1163 P WRD001 Waardenburg's Syndrome 58
1164 c SPN294 Spinocerebellar Ataxia 1 58
1165 P HYP035 Hypophosphatasia 58
1166 HYP810 Hypereosinophilic Syndrome, Idiopathic 58
1167 P EPL140 Epilepsy, Idiopathic Generalized 57
1168 c ESS001 Essential Tremor 57
1169 c GNG001 Gangliosidosis Gm1 57
1170 P MCR010 Microcephaly 57
1171 c GLC092 Glaucoma, Primary Open Angle 57
1172 P ANG015 Angioedema 57
1173 c ACT135 Acute Graft Versus Host Disease 56
1174 P DRR001 Diarrhea 56
1175 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 56
1176 P HYP097 Hyperekplexia 56
1177 P EPS003 Episodic Ataxia 56
1178 P DST002 Distal Arthrogryposis 56
1179 P ATR001 Atrioventricular Septal Defect 56
1180 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 56
1181 P ACH003 Achromatopsia 56
1182 P STC001 Stickler Syndrome 56
1183 P PRG013 Paraganglioma 56
1184 P SPN301 Spinocerebellar Ataxia 2 56
1185 c HRD002 Hereditary Angioedema 56
1186 P ACR001 Aicardi-Goutieres Syndrome 56
1187 P MYP006 Myopia 56
1188 P CHL002 Childhood Absence Epilepsy 56
1189 P PTN014 Patent Ductus Arteriosus 1 55
1190 DGR001 Digeorge Syndrome 55
1191 EXF001 Exfoliation Syndrome 55
1192 P ACT010 Acth-Secreting Pituitary Adenoma 55
1193 P DNG005 Dengue Virus 55
1194 c CLR131 Ciliary Dyskinesia, Primary, 1 55
1195 P SNR003 Senior-Loken Syndrome 1 55
1196 P CNG010 Congenital Stationary Night Blindness 55
1197 P HRD011 Hereditary Spherocytosis 55
1198 P CNG001 Congenital Myasthenic Syndrome 55
1199 P SMP003 Simpson-Golabi-Behmel Syndrome 55
1200 c CWD006 Cowden Syndrome 1 55
1201 P AGG001 Aggressive Periodontitis 54
1202 P TRM003 Tremor 54
1203 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 54
1204 P ICH004 Ichthyosis 54
1205 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
1206 P SCK004 Seckel Syndrome 54
1207 P LPR002 Leopard Syndrome 54
1208 P INF016 Infantile Epileptic Encephalopathy 54
1209 c SPN291 Spinocerebellar Ataxia 7 53
1210 c INF071 Inflammatory Bowel Disease 1 53
1211 P THY054 Thyrotoxic Periodic Paralysis 53
1212 P INF037 Inflammatory Bowel Disease 53
1213 c HPT007 Hepatitis E 53
1214 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
1215 RTN209 Retinoschisis 1, X-Linked, Juvenile 53
1216 P MLT007 Multiple Epiphyseal Dysplasia 53
1217 P AXN002 Axenfeld-Rieger Syndrome 53
1218 FND001 Fundus Albipunctatus 53
1219 P PRM011 Primary Ciliary Dyskinesia 53
1220 P CPL006 Capillary Hemangioma 53
1221 P CNT004 Centronuclear Myopathy 53
1222 DBT084 Diabetes Mellitus, Ketosis-Prone 52
1223 PRT082 Preterm Premature Rupture of the Membranes 52
1224 c NGH026 Night Blindness, Congenital Stationary, Type 1a 52
1225 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
1226 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1227 P PRC019 Precocious Puberty 52
1228 c HPT015 Hepatitis D 52
1229 LG4001 Lig4 Syndrome 52
1230 c CCK007 Cockayne Syndrome B 51
1231 c ERL020 Early-Onset Schizophrenia 51
1232 P ADM011 Adams-Oliver Syndrome 51
1233 c FRS014 Fraser Syndrome 1 51
1234 c CNT075 Central Precocious Puberty 51
1235 FCT001 Factor Viii Deficiency 51
1236 P MYM013 Moyamoya Disease 1 51
1237 P OPN001 Open-Angle Glaucoma 51
1238 P FNC043 Fanconi Anemia, Complementation Group E 51
1239 c SCN036 Secondary Progressive Multiple Sclerosis 51
1240 P BRC006 Brachydactyly 50
1241 P LPR021 Leprosy 3 50
1242 ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 50
1243 P PRX021 Proximal Symphalangism 50
1244 P APL006 Aplasia Cutis Congenita 50
1245 P NLD001 Nail Disease 50
1246 c RTN162 Retinitis Pigmentosa 2 50
1247 c PRD039 Periodontitis, Aggressive, 1 50
1248 c PRM108 Primary Progressive Multiple Sclerosis 49
1249 c HYP292 Hypophosphatasia, Infantile 49
1250 c NNN010 Noonan Syndrome 3 49
1251 P FBR025 Fibrochondrogenesis 49
1252 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49
1253 DRR008 Diarrhea 1, Secretory Chloride, Congenital 49
1254 c CNG216 Congenital Hydrocephalus 49
1255 P PRS049 Persistent Mullerian Duct Syndrome 49
1256 c ANG068 Angioedema, Hereditary, Type I 49
1257 c LBR014 Leber Congenital Amaurosis 4 49
1258 c HYP293 Hypophosphatasia, Adult 49
1259 ALL001 Allan-Herndon-Dudley Syndrome 49
1260 c FNC042 Fanconi Anemia, Complementation Group D2 49
1261 P WLL002 Weill-Marchesani Syndrome 49
1262 P INF049 Infantile Myofibromatosis 49
1263 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1264 P HYP087 Hypotrichosis 48
1265 c SPN293 Spinocerebellar Ataxia 12 48
1266 P ALT001 Alternating Hemiplegia of Childhood 48
1267 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1268 P PRM001 Primary Cutaneous Amyloidosis 48
1269 P GNG025 Gingival Fibromatosis 48
1270 c DWL002 Dowling-Degos Disease 1 48
1271 c CCK008 Cockayne Syndrome a 48
1272 P LSS002 Lissencephaly 48
1273 P MYT023 Myotonia Congenita 48
1274 P BRS053 Breast Fibroadenoma 48
1275 P PRK001 Porokeratosis 48
1276 c HYP740 Hyperlipoproteinemia, Type V 48
1277 P KRT007 Keratoconus 48
1278 P NNT009 Neonatal Diabetes Mellitus 48
1279 c STR084 Stargardt Disease 1 48
1280 P LCT002 Lactose Intolerance 47
1281 P MTH007 Methemoglobinemia 47
1282 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
1283 P CRN013 Craniodiaphyseal Dysplasia 47
1284 P NML001 Nemaline Myopathy 47
1285 c SPN314 Spinocerebellar Ataxia 10 47
1286 P RBN002 Robinow Syndrome 47
1287 EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 47
1288 c CRN139 Cornelia De Lange Syndrome 1 47
1289 c PCH012 Pachyonychia Congenita 2 47
1290 SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
1291 c OPT051 Opitz Gbbb Syndrome, Type I 47
1292 CHN056 Chondrosarcoma, Extraskeletal Myxoid 47
1293 c LFR007 Li-Fraumeni Syndrome 2 47
1294 VNW005 Von Willebrand Disease, Type 1 46
1295 P OCL001 Ocular Albinism 46
1296 P HYP726 Hypercalcemia, Infantile, 1 46
1297 c LBR012 Leber Congenital Amaurosis 2 46
1298 c DMN023 Diamond-Blackfan Anemia 1 46
1299 c SCH079 Schizophrenia 1 46
1300 P KLF001 Kleefstra Syndrome 46
1301 P KLP003 Klippel-Feil Syndrome 46
1302 c AXN009 Axenfeld-Rieger Syndrome, Type 1 46
1303 TRN022 Transcobalamin Ii Deficiency 46
1304 c EHL033 Ehlers-Danlos Syndrome, Classic Type 46
1305 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 46
1306 P VSC013 Visceral Heterotaxy 46
1307 c SPN296 Spinocerebellar Ataxia 17 46
1308 ENH001 Enhanced S-Cone Syndrome 46
1309 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
1310 c LTH008 Lethal Congenital Contracture Syndrome 2 46
1311 c SPH013 Spherocytosis, Type 1 46
1312 P SCL048 Sclerosteosis 46
1313 P GLL032 Galloway-Mowat Syndrome 46
1314 c USH021 Usher Syndrome, Type Iid 46
1315 c BRD044 Bardet-Biedl Syndrome 17 45
1316 c WRD020 Waardenburg Syndrome, Type 4a 45
1317 P MLT072 Multiple Synostoses Syndrome 45
1318 c ATS082 Autosomal Dominant Robinow Syndrome 45
1319 c USH035 Usher Syndrome Type 2 45
1320 c PTT057 Pituitary Adenoma 4, Acth-Secreting 45
1321 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
1322 c SPL024 Split-Hand/foot Malformation 3 45
1323 P AML002 Amelogenesis Imperfecta 45
1324 c PSD106 Pseudo-Torch Syndrome 1 45
1325 VNW008 Von Willebrand Disease, Type 3 45
1326 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
1327 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
1328 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
1329 P FNC044 Fanconi Anemia, Complementation Group C 45
1330 VNW010 Von Willebrand Disease, Type 2 45
1331 MCR165 Microphthalmia with Limb Anomalies 45
1332 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 44
1333 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
1334 c ACQ012 Acquired Angioedema 44
1335 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 44
1336 NRL018 Neural Tube Defects, Folate-Sensitive 44
1337 LPP002 Lipoprotein Glomerulopathy 44
1338 TMR010 Tumor Predisposition Syndrome 44
1339 c RBN009 Robinow Syndrome, Autosomal Recessive 44
1340 P FRN012 Frontometaphyseal Dysplasia 44
1341 c MCP047 Mucopolysaccharidosis, Type Iva 44
1342 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 44
1343 c LKD015 Leukodystrophy, Hypomyelinating, 3 44
1344 P ATS366 Autism X-Linked 2 43
1345 MRG013 Mirage Syndrome 43
1346 ACD008 Acid-Labile Subunit Deficiency 43
1347 P PRV002 Periventricular Nodular Heterotopia 43
1348 P ANL018 Analbuminemia 43
1349 P SDR003 Sideroblastic Anemia 43
1350 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43
1351 c SPN305 Spinocerebellar Ataxia 11 43
1352 HRT030 Hartsfield Syndrome 43
1353 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 43
1354 ASP005 Asphyxiating Thoracic Dystrophy 43
1355 P DNR001 Duane Retraction Syndrome 43
1356 c PRK082 Porokeratosis 1, Multiple Types 43
1357 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 43
1358 WRS002 Warsaw Breakage Syndrome 43
1359 c HYP543 Hypoplastic Left Heart Syndrome 1 42
1360 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 42
1361 c HMC009 Hemochromatosis Type 2 42
1362 P VTL001 Vitelliform Macular Dystrophy 42
1363 c AMY090 Amyotrophic Lateral Sclerosis 8 42
1364 PRP056 Porphyria, Acute Hepatic 42
1365 P JVN007 Juvenile Absence Epilepsy 42
1366 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 42
1367 P OPT048 Opitz-Gbbb Syndrome 42
1368 P HRD012 Hereditary Elliptocytosis 42
1369 P ART018 Aortic Valve Insufficiency 42
1370 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
1371 c WRB002 Warburg Micro Syndrome 1 42
1372 P MYF003 Myofibrillar Myopathy 42
1373 c BRD048 Bardet-Biedl Syndrome 18 42
1374 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
1375 c SPN265 Spinocerebellar Ataxia 36 42
1376 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
1377 c ATS275 Autosomal Recessive Primary Microcephaly 42
1378 RST023 Resting Heart Rate, Variation in 42
1379 c MCL066 Macular Dystrophy, Vitelliform, 2 42
1380 c BRD033 Bardet-Biedl Syndrome 13 41
1381 SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 41
1382 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41
1383 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 41
1384 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 41
1385 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 41
1386 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 41
1387 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 41
1388 c SCL042 Sclerosteosis 2 41
1389 P SYN012 Synpolydactyly 41
1390 c FNC032 Fanconi Anemia, Complementation Group B 41
1391 P PNT019 Pontocerebellar Hypoplasia 41
1392 P CNG003 Congenital Dyserythropoietic Anemia 41
1393 CRN241 Corneal Dystrophy, Congenital Stromal 41
1394 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 41
1395 P DYS023 Dyschromatosis Universalis Hereditaria 41
1396 c OPT050 Opitz Gbbb Syndrome, Type Ii 41
1397 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
1398 RBF001 Riboflavin Deficiency 41
1399 c 3MT014 3-Methylglutaconic Aciduria, Type V 41
1400 P JVN008 Juvenile Glaucoma 41
1401 c CTR130 Cataract 9, Multiple Types 41
1402 c USH040 Usher Syndrome, Type Id 41
1403 c USH039 Usher Syndrome, Type Ic 41
1404 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
1405 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 41
1406 ART002 Arts Syndrome 41
1407 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
1408 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
1409 c BRD020 Bardet-Biedl Syndrome 8 40
1410 c SPN330 Spondylocostal Dysostosis 5 40
1411 P CHR637 Choroidal Dystrophy, Central Areolar, 1 40
1412 P PST059 Pustular Psoriasis 40
1413 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
1414 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
1415 P CHR084 Chromosomal Disease 40
1416 c MCR263 Microphthalmia, Syndromic 1 40
1417 c SPL034 Split-Hand/foot Malformation 4 40
1418 c RTN058 Retinitis Pigmentosa 3 40
1419 c ACT004 Acute Diarrhea 40
1420 c SPN103 Spinocerebellar Ataxia 31 40
1421 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
1422 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 40
1423 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1424 c RTN160 Retinitis Pigmentosa 60 40
1425 c BRD032 Bardet-Biedl Syndrome 14 40
1426 ATS010 Autosomal Recessive Disease 40
1427 c GLY098 Glycogen Storage Disease, Type Ixd 40
1428 CRN285 Corneal Dystrophy, Fleck 40
1429 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1430 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 40
1431 c USH020 Usher Syndrome, Type Iic 40
1432 c RTN143 Retinitis Pigmentosa 47 40
1433 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1434 P DWL001 Dowling-Degos Disease 40
1435 c HMC021 Hemochromatosis, Type 2a 40
1436 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
1437 c SCP001 Sc Phocomelia Syndrome 39
1438 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 39
1439 P DYS005 Dyslexia 39
1440 c LBR019 Leber Congenital Amaurosis 9 39
1441 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
1442 P WLL010 Woolly Hair Syndrome 39
1443 c LNG057 Long Qt Syndrome 13 39
1444 c RTN043 Retinitis Pigmentosa 13 39
1445 c PSR017 Psoriasis 2 39
1446 CRB148 Cerebral Creatine Deficiency Syndrome 3 39
1447 HYP110 Hyperproinsulinemia 39
1448 MHR001 Mohr-Tranebjaerg Syndrome 39
1449 P EPL116 Epileptic Encephalopathy, Childhood-Onset 39
1450 c HNT004 Huntington Disease-Like 2 39
1451 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 39
1452 c PRC031 Preeclampsia/eclampsia 1 39
1453 GLC084 Glaucoma, Normal Tension 39
1454 ATS008 Autosomal Dominant Disease 39
1455 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1456 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1457 c SPH014 Spherocytosis, Type 2 39
1458 NTR018 Neutrophilia, Hereditary 39
1459 c RTN172 Retinitis Pigmentosa 1 39
1460 P ATR031 Atrial Septal Defect 4 39
1461 SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 39
1462 P UVS001 Uv-Sensitive Syndrome 39
1463 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
1464 P MCR241 Microphthalmia, Syndromic 3 38
1465 c BRD035 Bardet-Biedl Syndrome 15 38
1466 c AMY067 Amyotrophic Lateral Sclerosis 18 38
1467 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
1468 c LNG096 Long Qt Syndrome 15 38
1469 c LBR004 Leber Congenital Amaurosis 1 38
1470 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
1471 c RTN177 Retinitis Pigmentosa 73 38
1472 P BRN042 Branchiootic Syndrome 38
1473 c ALB024 Albinism, Ocular, Type I 38
1474 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 38
1475 c SPL067 Split-Hand/foot Malformation 1 38
1476 c PSR028 Psoriasis 7 38
1477 c PSR032 Psoriasis 11 38
1478 c SPN304 Spinocerebellar Ataxia 8 38
1479 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 38
1480 c AMY069 Amyotrophic Lateral Sclerosis 21 38
1481 c GM2005 Gm2-Gangliosidosis, Ab Variant 38
1482 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1483 c RTN142 Retinitis Pigmentosa 38 38
1484 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
1485 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 38
1486 P ANT088 Anterior Segment Dysgenesis 38
1487 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
1488 c CTR115 Cataract 16, Multiple Types 38
1489 VNM003 Van Maldergem Syndrome 1 38
1490 c WRB005 Warburg Micro Syndrome 4 37
1491 P GNG010 Gangliosidosis Gm2 37
1492 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 37
1493 c RBN017 Robinow Syndrome, Autosomal Dominant 2 37
1494 P 3MT007 3-Methylglutaconic Aciduria 37
1495 c GLL038 Galloway-Mowat Syndrome 1 37
1496 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
1497 c RTN069 Retinitis Pigmentosa 7 37
1498 c PNT018 Pontocerebellar Hypoplasia, Type 1b 37
1499 P SPL061 Split Hand-Foot Malformation 37
1500 c SPH016 Spherocytosis, Type 4 37
1501 CHR667 Chromosome 3pter-P25 Deletion Syndrome 37
1502 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
1503 c BRC051 Brachydactyly, Type B1 37
1504 c HYP507 Hypotrichosis 1 37
1505 MYP139 Myopathy, Proximal, and Ophthalmoplegia 37
1506 c PSR023 Psoriasis 1 37
1507 P PRT042 Parietal Foramina 37
1508 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 37
1509 BTR002 Beta-Ureidopropionase Deficiency 37
1510 WNC001 Winchester Syndrome 37
1511 c PSR018 Psoriasis 13 37
1512 c EPS017 Episodic Ataxia, Type 6 37
1513 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
1514 c CTR118 Cataract 14, Multiple Types 37
1515 EST007 Estrogen Resistance 37
1516 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
1517 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 37
1518 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 36
1519 c MCR124 Microphthalmia, Isolated 1 36
1520 GLY032 Glycosylphosphatidylinositol Deficiency 36
1521 c AML020 Amelogenesis Imperfecta, Type Iv 36
1522 c RTN048 Retinitis Pigmentosa 19 36
1523 c SPL070 Split-Hand/foot Malformation 2 36
1524 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 36
1525 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 36
1526 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
1527 P ANX007 Anauxetic Dysplasia 1 36
1528 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1529 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
1530 c PRM032 Primary Congenital Glaucoma 36
1531 MND025 Mandibulofacial Dysostosis with Alopecia 36
1532 c FNC045 Fanconi Anemia, Complementation Group F 36
1533 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
1534 c RTS003 Ritscher-Schinzel Syndrome 1 36
1535 c RTN050 Retinitis Pigmentosa 20 36
1536 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
1537 c ADM005 Adams-Oliver Syndrome 1 36
1538 c USH042 Usher Syndrome, Type Ig 36
1539 c SPH015 Spherocytosis, Type 3 36
1540 c SPN299 Spinocerebellar Ataxia 20 36
1541 c CTR170 Cataract 30, Multiple Types 36
1542 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 36
1543 RTC008 Reticulate Acropigmentation of Kitamura 36
1544 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
1545 c MCP051 Mucopolysaccharidosis, Type Ix 36
1546 c USH041 Usher Syndrome, Type if 36
1547 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 36
1548 c KNB006 Knobloch Syndrome 1 36
1549 CMP089 Complement Component 6 Deficiency 36
1550 c SPN094 Spinocerebellar Ataxia 18 36
1551 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 35
1552 c LSS006 Lissencephaly 2 35
1553 OGD001 Ogden Syndrome 35
1554 SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1555 c WRD024 Waardenburg Syndrome, Type 4c 35
1556 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1557 c GLC083 Glaucoma 3, Primary Infantile, B 35
1558 ATR013 Atrichia with Papular Lesions 35
1559 c VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 35
1560 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 35
1561 c ATS076 Autosomal Recessive Stickler Syndrome 35
1562 c HYP559 Hypotrichosis 8 35
1563 P BRT040 Baraitser-Winter Syndrome 35
1564 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 35
1565 IND012 Indifference to Pain, Congenital, Autosomal Recessive 35
1566 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 35
1567 VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 35
1568 c LNG056 Long Qt Syndrome 12 35
1569 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
1570 c CTR098 Cataract 1, Multiple Types 35
1571 NNK001 Nonaka Myopathy 35
1572 PLY068 Polysubstance Abuse 35
1573 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
1574 c SPL033 Split-Hand/foot Malformation 6 35
1575 c LBR007 Leber Congenital Amaurosis 12 35
1576 c RTN186 Retinitis Pigmentosa 75 35
1577 EPT021 Epithelial Recurrent Erosion Dystrophy 35
1578 OHD005 Ohdo Syndrome, Sbbys Variant 34
1579 P VTR010 Vitreoretinochoroidopathy 34
1580 c TRC078 Trichohepatoenteric Syndrome 2 34
1581 PRM056 Primrose Syndrome 34
1582 c NNN012 Noonan Syndrome 5 34
1583 c HMN027 Hemangioma, Capillary Infantile 34
1584 c RTN055 Retinitis Pigmentosa 26 34
1585 c GLY023 Glycogen Storage Disease Type 0 34
1586 CLR133 Colorblindness, Partial, Protan Series 34
1587 c DNR003 Duane Retraction Syndrome 1 34
1588 c ATS013 Autosomal Recessive Congenital Ichthyosis 34
1589 c APL023 Aplasia Cutis Congenita, Nonsyndromic 34
1590 P HYP111 Hyperprolinemia 34
1591 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 34
1592 P ANT061 Antenatal Bartter Syndrome 34
1593 CHR387 Chromosome Xp21 Deletion Syndrome 34
1594 CRB081 Cerebellar Ataxia, Cayman Type 34
1595 c RTN165 Retinitis Pigmentosa 68 34
1596 OVR093 Overhydrated Hereditary Stomatocytosis 34
1597 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 34
1598 LGN006 Legionnaire Disease 34
1599 P GLP001 Geleophysic Dysplasia 34
1600 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 34
1601 c MCL016 Mucolipidosis Iii Gamma 34
1602 CHR501 Chromosome 17q12 Deletion Syndrome 34
1603 TRM011 Terminal Osseous Dysplasia 34
1604 c BRD045 Bardet-Biedl Syndrome 19 34
1605 MNC019 Monocarboxylate Transporter 1 Deficiency 34
1606 INF159 Infantile Sialic Acid Storage Disease 34
1607 c HYP581 Hypotrichosis 6 34
1608 c RTN149 Retinitis Pigmentosa 42 34
1609 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
1610 CHR382 Chromosome 18q Deletion Syndrome 34
1611 c CNG379 Congenital Disorder of Glycosylation, Type It 34
1612 c WLF009 Wolfram Syndrome 2 34
1613 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 34
1614 ATM052 Autoimmune Disease 1 34
1615 c AML017 Amelogenesis Imperfecta, Type Ib 34
1616 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
1617 c LBR011 Leber Congenital Amaurosis 16 34
1618 SPN331 Spondyloocular Syndrome 33
1619 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33
1620 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 33
1621 c RTN090 Retinitis Pigmentosa 55 33
1622 c PNT045 Pontocerebellar Hypoplasia, Type 1a 33
1623 P SPS008 Spastic Ataxia 33
1624 c NML004 Nemaline Myopathy 3 33
1625 c FML250 Familial Progressive Cardiac Conduction Defect 33
1626 c CTR141 Cataract 21, Multiple Types 33
1627 P PRR025 Perrault Syndrome 33
1628 c INF086 Inflammatory Bowel Disease 3 33
1629 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 33
1630 c RTN136 Retinitis Pigmentosa 44 33
1631 c WRB003 Warburg Micro Syndrome 2 33
1632 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
1633 c GLP003 Geleophysic Dysplasia 1 33
1634 c MYT027 Myotonia Congenita, Autosomal Dominant 33
1635 MST006 Mast Syndrome 33
1636 c BRD047 Bardet-Biedl Syndrome 16 33
1637 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
1638 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
1639 c AMY085 Amyotrophic Lateral Sclerosis 9 33
1640 GBT001 Gaba-Transaminase Deficiency 33
1641 BRC004 Brachydactyly-Syndactyly Syndrome 33
1642 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
1643 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
1644 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33
1645 KLL014 Kelley-Seegmiller Syndrome 33
1646 P MYS032 Myosin Storage Myopathy 33
1647 CHR377 Chromosome 10q26 Deletion Syndrome 33
1648 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
1649 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 33
1650 c RTN133 Retinitis Pigmentosa 43 33
1651 OCC002 Occult Macular Dystrophy 33
1652 GLY094 Glycine Encephalopathy with Normal Serum Glycine 33
1653 HYP540 Hypertension, Diastolic 33
1654 P BST001 Bestrophinopathy 33
1655 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
1656 c MYP078 Myopathy, Myofibrillar, 3 32
1657 c RTN131 Retinitis Pigmentosa 27 32
1658 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 32
1659 P FNC026 Fanconi Renotubular Syndrome 1 32
1660 c ACH023 Achromatopsia 4 32
1661 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 32
1662 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 32
1663 c AMY088 Amyotrophic Lateral Sclerosis 3 32
1664 c PRM038 Primary Agammaglobulinemia 32
1665 c CTR122 Cataract 5, Multiple Types 32
1666 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1667 c SPN266 Spinocerebellar Ataxia 35 32
1668 GRN051 Granulomatous Disease, Chronic, X-Linked 32
1669 c AMY059 Amyotrophic Lateral Sclerosis 19 32
1670 P KNB001 Knobloch Syndrome 32
1671 P MTP005 Metaphyseal Anadysplasia 32
1672 c RTN210 Retinitis Pigmentosa 50 32
1673 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 32
1674 c NNN011 Noonan Syndrome 4 32
1675 FRG010 Fragile X Tremor/ataxia Syndrome 32
1676 c SPL025 Split-Hand/foot Malformation 5 32
1677 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 32
1678 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
1679 P OCY003 Oocyte Maturation Defect 1 32
1680 P WRB001 Warburg Micro Syndrome 32
1681 c WRD010 Waardenburg Syndrome Type 4 32
1682 c PRX055 Peroxisome Biogenesis Disorder 11a 32
1683 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1684 c AMY083 Amyotrophic Lateral Sclerosis 11 32
1685 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32
1686 c RTN062 Retinitis Pigmentosa 33 32
1687 MTC060 Mitochondrial Dna Depletion Syndrome 9 32
1688 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 31
1689 c SPN105 Spinocerebellar Ataxia 4 31
1690 c HRD146 Hereditary Methemoglobinemia 31
1691 c SPN095 Spinocerebellar Ataxia 19 31
1692 GLT019 Glut1 Deficiency Syndrome 2 31
1693 ATN014 Autoinflammation with Arthritis and Dyskeratosis 31
1694 c RTN051 Retinitis Pigmentosa 22 31
1695 c CTR125 Cataract 7 31
1696 c GLP004 Geleophysic Dysplasia 2 31
1697 c NML003 Nemaline Myopathy 2 31
1698 c HMC034 Hemochromatosis, Type 5 31
1699 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 31
1700 c RTN134 Retinitis Pigmentosa 40 31
1701 c WLL036 Weill-Marchesani Syndrome 1 31
1702 c EPL133 Epilepsy, Juvenile Absence 1 31
1703 ALR002 Al-Raqad Syndrome 31
1704 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 31
1705 P SNG014 Singleton-Merten Syndrome 31
1706 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
1707 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
1708 PHS021 Phosphoglycerate Dehydrogenase Deficiency 31
1709 c CTR145 Cataract 44 31
1710 c RTN041 Retinitis Pigmentosa 11 31
1711 c OVR075 Ovarian Dysgenesis 1 31
1712 P HYP700 Hypomyelinating Leukodystrophy 31
1713 c AML057 Amelogenesis Imperfecta, Type Iiia 31
1714 c MYP079 Myopathy, Myofibrillar, 5 31
1715 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
1716 c MCK033 Meckel Syndrome, Type 4 31
1717 c RTN116 Retinitis Pigmentosa 56 31
1718 c NML002 Nemaline Myopathy 1 31
1719 P ENC056 Encephalopathy, Acute, Infection-Induced 4 31
1720 c NML005 Nemaline Myopathy 4 31
1721 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31
1722 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 31
1723 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
1724 P MCR122 Microphthalmia, Isolated 5 31
1725 CLC008 Colchicine Resistance 31
1726 c LBR005 Leber Congenital Amaurosis 10 31
1727 46X051 46,xy Sex Reversal 1 31
1728 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31
1729 c CTR103 Cataract 4, Multiple Types 31
1730 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
1731 c RTN044 Retinitis Pigmentosa 14 31
1732 c PCH010 Pachyonychia Congenita 3 31
1733 P SPC019 Specific Language Impairment 31
1734 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 31
1735 c MCR211 Microphthalmia, Isolated 6 31
1736 CLD003 Cold-Induced Sweating Syndrome 31
1737 c LBR013 Leber Congenital Amaurosis 3 31
1738 c RTN056 Retinitis Pigmentosa 28 31
1739 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1740 c NNS043 Nonsyndromic Retinitis Pigmentosa 31
1741 c CTR158 Cataract 37 31
1742 c ATR022 Atrial Septal Defect 3 30
1743 c MCK012 Meckel Syndrome, Type 6 30
1744 c RTN171 Retinitis Pigmentosa 59 30
1745 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 30
1746 ASP024 Asparagine Synthetase Deficiency 30
1747 c LSS010 Lissencephaly 4 30
1748 PHS022 Phosphoserine Phosphatase Deficiency 30
1749 c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 30
1750 OVL001 Ovalocytosis, Southeast Asian 30
1751 c HYP515 Hypotrichosis 3 30
1752 P CRN249 Cornea Plana 30
1753 c RTN150 Retinitis Pigmentosa 10 30
1754 c MCK030 Meckel Syndrome, Type 7 30
1755 c KLF004 Kleefstra Syndrome 1 30
1756 P OTF004 Otofaciocervical Syndrome 1 30
1757 c HNT011 Huntington Disease-Like 3 30
1758 c CHR135 Charcot-Marie-Tooth Disease Type 2a 30
1759 c ATR066 Atrial Septal Defect 2 30
1760 c LBR018 Leber Congenital Amaurosis 8 30
1761 P AST055 Asthma-Related Traits 1 30
1762 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1763 ALG027 Al-Gazali-Bakalinova Syndrome 30
1764 c GLL024 Gallbladder Disease 1 30
1765 c CCK002 Cockayne Syndrome Type I 30
1766 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
1767 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
1768 CRD220 Cardiac Valvular Defect, Developmental 30
1769 c CNG223 Congenital Methemoglobinemia 30
1770 c RTN047 Retinitis Pigmentosa 18 30
1771 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1772 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
1773 c NGH025 Night Blindness, Congenital Stationary, Type 2a 30
1774 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
1775 c EPS015 Episodic Ataxia, Type 7 30
1776 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1777 c THY084 Thyrotoxic Periodic Paralysis 1 30
1778 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 30
1779 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
1780 GLM012 Glomuvenous Malformations 30
1781 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1782 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 30
1783 c RTN068 Retinitis Pigmentosa 6 30
1784 P XLN007 X-Linked Disease 30
1785 c SCK009 Seckel Syndrome 1 30
1786 c EPS037 Episodic Ataxia, Type 4 30
1787 c CNG188 Congenital Disorder of Glycosylation, Type if 30
1788 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
1789 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 30
1790 CMB020 Combined Saposin Deficiency 30
1791 c RTN152 Retinitis Pigmentosa 66 29
1792 c RTN042 Retinitis Pigmentosa 12 29
1793 c SRC023 Sarcoidosis 2 29
1794 c GLY057 Glycogen Storage Disease X 29
1795 c ALB019 Albinism, Oculocutaneous, Type Iv 29
1796 c JVN015 Juvenile Huntington Disease 29
1797 c CTR095 Cataract 8, Multiple Types 29
1798 c WRD019 Waardenburg Syndrome, Type 4b 29
1799 TNP004 Tn Polyagglutination Syndrome 29
1800 c MYP080 Myopathy, Myofibrillar, 4 29
1801 CRT045 Creatine Phosphokinase, Elevated Serum 29
1802 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 29
1803 MCR183 Microcephaly-Capillary Malformation Syndrome 29
1804 c WLL037 Weill-Marchesani Syndrome 2 29
1805 BSL037 Basal Laminar Drusen 29
1806 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
1807 c FRN048 Frontometaphyseal Dysplasia 2 29
1808 RHN013 Rh-Null, Regulator Type 29
1809 c HRM020 Hermansky-Pudlak Syndrome 10 29
1810 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 29
1811 c CCK003 Cockayne Syndrome Type Ii 29
1812 c BST008 Bestrophinopathy, Autosomal Recessive 29
1813 c MCR329 Microcephaly, Autosomal Dominant 29
1814 MCR096 Macrocephaly/autism Syndrome 29
1815 c SCL045 Sclerosteosis 1 29
1816 c FNC062 Fanconi Anemia, Complementation Group S 29
1817 c JBR012 Joubert Syndrome 5 29
1818 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 29
1819 c ACQ027 Acquired Cutis Laxa 29
1820 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 29
1821 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 29
1822 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 29
1823 CRY019 Cryohydrocytosis 29
1824 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1825 c FNC023 Fanconi Anemia, Complementation Group N 29
1826 c PNT032 Pontocerebellar Hypoplasia, Type 9 29
1827 VND005 Van Den Ende-Gupta Syndrome 29
1828 GLS018 Glass Syndrome 29
1829 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
1830 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
1831 CND011 Cone Dystrophy 3 29
1832 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
1833 PRP093 Pierpont Syndrome 29
1834 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 29
1835 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 29
1836 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1837 PHS014 Phosphoglycerate Kinase 1 Deficiency 29
1838 c BRT039 Baraitser-Winter Syndrome 2 29
1839 c SCK011 Seckel Syndrome 5 29
1840 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 29
1841 c FNC028 Fanconi Anemia, Complementation Group L 29
1842 ACR095 Acrofacial Dysostosis, Cincinnati Type 29
1843 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 29
1844 c RBN008 Rubinstein-Taybi Syndrome 2 29
1845 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
1846 WTT002 Witteveen-Kolk Syndrome 29
1847 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 29
1848 c CRN243 Carney Complex, Type 1 29
1849 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 29
1850 PRK005 Prekallikrein Deficiency 29
1851 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1852 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1853 P XLN161 X-Linked Chondrodysplasia Punctata 29
1854 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 29
1855 SVN002 Sveinsson Chorioretinal Atrophy 29
1856 STR099 Striatonigral Degeneration, Infantile, Mitochondrial 28
1857 c INF087 Inflammatory Bowel Disease 4 28
1858 HYP267 Hyperchlorhidrosis, Isolated 28
1859 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 28
1860 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 28
1861 P ZMM001 Zimmermann-Laband Syndrome 28
1862 BCH003 Boucher-Neuhauser Syndrome 28
1863 CYN002 Cyanosis, Transient Neonatal 28
1864 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
1865 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
1866 P INV008 Invasive Pneumococcal Disease, Recurrent Isolated, 1 28
1867 P SCH077 Schwannomatosis 1 28
1868 c USH031 Usher Syndrome, Type Ij 28
1869 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1870 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
1871 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
1872 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 28
1873 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
1874 ATX038 Ataxia and Polyneuropathy, Adult-Onset 28
1875 c CTR175 Cataract 24 28
1876 HYP674 Hyperostosis Cranialis Interna 28
1877 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
1878 c ACR081 Aicardi-Goutieres Syndrome 6 28
1879 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 28
1880 c RTN066 Retinitis Pigmentosa 4 28
1881 c NGH029 Night Blindness, Congenital Stationary, Type 1e 28
1882 c TRM024 Tremor, Hereditary Essential, 1 28
1883 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1884 ACR004 Acrokeratosis Verruciformis 28
1885 c CTR132 Cataract 3, Multiple Types 28
1886 LRY022 Laryngoonychocutaneous Syndrome 28
1887 c ALB015 Albinism, Oculocutaneous, Type V 28
1888 c PRX060 Peroxisome Biogenesis Disorder 5a 28
1889 c CRN109 Cranioectodermal Dysplasia 2 28
1890 c RTN070 Retinitis Pigmentosa 9 28
1891 P DSB002 Desbuquois Dysplasia 28
1892 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
1893 c DYS067 Dystonia 6, Torsion 28
1894 c RTN052 Retinitis Pigmentosa 23 28
1895 c LBR016 Leber Congenital Amaurosis 6 28
1896 MTC059 Mitochondrial Dna Depletion Syndrome 5 28
1897 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
1898 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
1899 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 28
1900 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
1901 c CTR121 Cataract 25 28
1902 BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 28
1903 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 28
1904 c RTN064 Retinitis Pigmentosa 35 28
1905 c GLY017 Glycogen Storage Disease Ic 28
1906 BRW001 Brown-Vialetto-Van Laere Syndrome 28
1907 c MCL070 Macular Dystrophy, Patterned, 3 28
1908 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 28
1909 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
1910 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
1911 c DYS139 Dyschromatosis Universalis Hereditaria 3 28
1912 c SYN084 Synpolydactyly 1 28
1913 SCR035 Sacral Agenesis with Vertebral Anomalies 28
1914 c SCK010 Seckel Syndrome 4 28
1915 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
1916 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 28
1917 KPP002 Keppen-Lubinsky Syndrome 28
1918 DRR013 Diarrhea 8, Secretory Sodium, Congenital 28
1919 CMP040 Complement Component 4, Partial Deficiency of 28
1920 CNR014 Cone-Rod Dystrophy 16 28
1921 c USH030 Usher Syndrome, Type Ik 28
1922 c NNN021 Noonan Syndrome 8 28
1923 P RTS001 Ritscher-Schinzel Syndrome 28
1924 c THY083 Thyrotoxic Periodic Paralysis 2 27
1925 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 27
1926 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 27
1927 SPC026 Specific Granule Deficiency 1 27
1928 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
1929 c SPN383 Spinocerebellar Ataxia 42 27
1930 c RTN046 Retinitis Pigmentosa 17 27
1931 EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 27
1932 c ERL012 Early-Onset Glaucoma 27
1933 c ART112 Arthrogryposis, Distal, Type 10 27
1934 P LTH003 Lethal Congenital Contracture Syndrome 27
1935 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 27
1936 c WSK002 Wiskott-Aldrich Syndrome 2 27
1937 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1938 c CTR174 Cataract 40 27
1939 c HTR021 Heterotaxy, Visceral, 5, Autosomal 27
1940 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
1941 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1942 c MCR245 Microphthalmia, Syndromic 8 27
1943 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 27
1944 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
1945 ALZ030 Alazami Syndrome 27
1946 c RTN054 Retinitis Pigmentosa 25 27
1947 c NNN024 Noonan Syndrome 9 27
1948 c RTN057 Retinitis Pigmentosa 29 27
1949 GLT028 Glutaric Aciduria Iii 27
1950 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 27
1951 MLL011 Mullerian Aplasia and Hyperandrogenism 27
1952 c ACQ047 Acquired Methemoglobinemia 27
1953 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
1954 c SPN098 Spinocerebellar Ataxia 25 27
1955 c PRX056 Peroxisome Biogenesis Disorder 11b 27
1956 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 27
1957 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 27
1958 c ICH023 Ichthyosis, Acquired 27
1959 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 27
1960 LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 27
1961 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
1962 MYP097 Myopathy with Lactic Acidosis, Hereditary 27
1963 c PSD107 Pseudo-Torch Syndrome 2 27
1964 c RTN129 Retinitis Pigmentosa 49 27
1965 c CTR124 Cataract 10, Multiple Types 27
1966 c HYP248 Hyperprolinemia, Type I 27
1967 c RTN146 Retinitis Pigmentosa 62 27
1968 c RTN114 Retinitis Pigmentosa 58 27
1969 c ADM007 Adams-Oliver Syndrome 2 27
1970 RBS005 Ribose 5-Phosphate Isomerase Deficiency 27
1971 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
1972 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
1973 TTT001 Tatton-Brown-Rahman Syndrome 27
1974 CRB147 Cerebellofaciodental Syndrome 27
1975 c PST001 Posterior Myocardial Infarction 27
1976 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
1977 c SPN247 Spinocerebellar Ataxia Type 19/22 27
1978 c SPN283 Spinocerebellar Ataxia 37 27
1979 c LBR009 Leber Congenital Amaurosis 14 27
1980 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
1981 c RTN140 Retinitis Pigmentosa 67 27
1982 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
1983 c ANR047 Aniridia 2 27
1984 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
1985 PRM206 Premature Aging Syndrome, Penttinen Type 27
1986 c HYP577 Hypotrichosis 13 27
1987 c NNS018 Nonsyndromic Paraganglioma 27
1988 c SPN284 Spinocerebellar Ataxia 38 27
1989 c CRP022 Carpenter Syndrome 2 27
1990 c RBN020 Robinow Syndrome, Autosomal Dominant 3 27
1991 c SNG011 Singleton-Merten Syndrome 1 27
1992 c CLR091 Ciliary Dyskinesia, Primary, 14 27
1993 BMB001 Bombay Phenotype 27
1994 STL007 Steel Syndrome 26
1995 TKN001 Takenouchi-Kosaki Syndrome 26
1996 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
1997 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 26
1998 c ART104 Arthrogryposis, Distal, Type 5d 26
1999 CHR399 Chromosome 4q21 Deletion Syndrome 26
2000 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
2001 c INF089 Inflammatory Bowel Disease 6 26
2002 c INF092 Inflammatory Bowel Disease 9 26
2003 BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 26
2004 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
2005 c ACR084 Aicardi-Goutieres Syndrome 7 26
2006 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
2007 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
2008 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 26
2009 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
2010 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
2011 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 26
2012 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
2013 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
2014 c NNN025 Noonan Syndrome 10 26
2015 c MCR352 Microphthalmia, Isolated, with Coloboma 6 26
2016 c LNG098 Long Qt Syndrome 14 26
2017 MTC088 Mitochondrial Dna Depletion Syndrome 13 26
2018 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 26
2019 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
2020 c JBR014 Joubert Syndrome 9 26
2021 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
2022 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
2023 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 26
2024 c BRC062 Brachydactyly, Type D 26
2025 HRD073 Hereditary Myopathy with Early Respiratory Failure 26
2026 P ADP010 Adiponectin, Serum Level of, Quantitative Trait Locus 1 26
2027 KRT047 Keratosis Pilaris Atrophicans 26
2028 c USH044 Usher Syndrome, Type Iiib 26
2029 c PRX054 Peroxisome Biogenesis Disorder 12a 26
2030 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 26
2031 c DMN017 Diamond-Blackfan Anemia 10 26
2032 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
2033 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 26
2034 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26
2035 c AMY063 Amyotrophic Lateral Sclerosis 20 26
2036 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
2037 3MC002 3mc Syndrome 1 26
2038 c SPN372 Spinocerebellar Ataxia 43 26
2039 c NML006 Nemaline Myopathy 5 26
2040 c NNN013 Noonan Syndrome 6 26
2041 c LBR015 Leber Congenital Amaurosis 5 26
2042 c ADM010 Adams-Oliver Syndrome 5 26
2043 c PTT029 Pitt-Hopkins-Like Syndrome 1 26
2044 c AMY089 Amyotrophic Lateral Sclerosis 7 26
2045 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
2046 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
2047 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 26
2048 c LKD020 Leukodystrophy, Hypomyelinating, 10 26
2049 c SPH017 Spherocytosis, Type 5 26
2050 c RTN147 Retinitis Pigmentosa 48 26
2051 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
2052 P TRG016 Trigonocephaly 1 26
2053 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 26
2054 HST022 Histiocytoma, Angiomatoid Fibrous 26
2055 c NNN009 Noonan Syndrome 2 26
2056 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
2057 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
2058 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
2059 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
2060 c SCH082 Schizophrenia 5 26
2061 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
2062 CRN049 Craniolenticulosutural Dysplasia 25
2063 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
2064 c RTN053 Retinitis Pigmentosa 24 25
2065 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
2066 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
2067 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 25
2068 c FRN049 Frontometaphyseal Dysplasia 1 25
2069 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
2070 c LKD022 Leukodystrophy, Hypomyelinating, 13 25
2071 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 25
2072 c RTN176 Retinitis Pigmentosa 71 25
2073 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
2074 c ALB017 Albinism, Oculocutaneous, Type Vi 25
2075 c LPR022 Leprosy 2 25
2076 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
2077 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
2078 c ANG045 Angioedema, Hereditary, Type Iii 25
2079 PGM007 Pigmented Paravenous Chorioretinal Atrophy 25
2080 INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 25
2081 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 25
2082 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 25
2083 c RTN059 Retinitis Pigmentosa 30 25
2084 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
2085 c JBR031 Joubert Syndrome 21 25
2086 c PRR026 Perrault Syndrome 5 25
2087 c BRD050 Bardet-Biedl Syndrome 21 25
2088 DGT002 Digital Clubbing, Isolated Congenital 25
2089 c PLM121 Pulmonary Hypertension, Primary, 4 25
2090 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
2091 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
2092 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
2093 c INF002 Inflammatory Diarrhea 25
2094 c CCK004 Cockayne Syndrome Type Iii 25
2095 FZL002 Fazio-Londe Disease 25
2096 c MCL078 Macular Degeneration, Age-Related, 14 25
2097 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 25
2098 c RTN060 Retinitis Pigmentosa 31 25
2099 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
2100 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
2101 c RTN169 Retinitis Pigmentosa 70 25
2102 c PRT059 Parietal Foramina 1 25
2103 ANG049 Angioedema Induced by Ace Inhibitors 25
2104 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
2105 c PRR020 Perrault Syndrome 1 25
2106 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 25
2107 c MYC058 Myocardial Infarction 2 25
2108 DMT001 Dimethylglycine Dehydrogenase Deficiency 25
2109 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
2110 c STR092 Striatal Degeneration, Autosomal Dominant 2 25
2111 P FRN033 Frontonasal Dysplasia 2 25
2112 c DSB005 Desbuquois Dysplasia 2 25
2113 PSD078 Pseudofolliculitis Barbae 25
2114 c PCH011 Pachyonychia Congenita 4 25
2115 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 25
2116 c DMN022 Diamond-Blackfan Anemia 9 25
2117 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
2118 PRM087 Premature Chromatid Separation Trait 25
2119 SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 25
2120 c DMN021 Diamond-Blackfan Anemia 6 25
2121 CMP094 Complement Component 4b Deficiency 25
2122 PLY110 Polymicrogyria, Bilateral Temporooccipital 25
2123 HMX003 Heme Oxygenase 1 Deficiency 25
2124 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
2125 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 25
2126 c PRT060 Parietal Foramina 2 25
2127 c FNC048 Fanconi Anemia, Complementation Group O 25
2128 PRT130 Protein Z Deficiency 25
2129 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
2130 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
2131 CHR366 Chromosome 5p13 Duplication Syndrome 25
2132 c CTR169 Cataract 29 25
2133 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
2134 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25
2135 SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 24
2136 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 24
2137 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 24
2138 c RTN159 Retinitis Pigmentosa 45 24
2139 c SVR040 Severe Congenital Nemaline Myopathy 24
2140 c RTN178 Retinitis Pigmentosa 72 24
2141 c FNC029 Fanconi Anemia, Complementation Group I 24
2142 MTC062 Mitochondrial Dna Depletion Syndrome 2 24
2143 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 24
2144 ECT033 Ectopia Lentis Et Pupillae 24
2145 P BCT020 Bacteremia 2 24
2146 CHR379 Chromosome 15q26-Qter Deletion Syndrome 24
2147 c PNT048 Pontocerebellar Hypoplasia, Type 2c 24
2148 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
2149 c ERL003 Early Onset Absence Epilepsy 24
2150 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 24
2151 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24
2152 c CLR090 Ciliary Dyskinesia, Primary, 22 24
2153 c ART122 Arthrogryposis, Distal, Type 8 24
2154 HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 24
2155 SCH037 Schinzel-Giedion Midface Retraction Syndrome 24
2156 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 24
2157 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 24
2158 c LKD016 Leukodystrophy, Hypomyelinating, 9 24
2159 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
2160 CMP087 Complement Component 7 Deficiency 24
2161 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 24
2162 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 24
2163 ANH003 Anhaptoglobinemia 24
2164 c PRX065 Peroxisome Biogenesis Disorder 3a 24
2165 c MRG010 Meier-Gorlin Syndrome 3 24
2166 c PRX091 Peroxisome Biogenesis Disorder 8a 24
2167 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
2168 c CFF007 Coffin-Siris Syndrome 2 24
2169 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 24
2170 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 24
2171 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 24
2172 c GLL027 Gallbladder Disease 4 24
2173 c RTN106 Retinitis Pigmentosa 51 24
2174 c CWD008 Cowden Syndrome 6 24
2175 c LSS025 Lissencephaly 5 24
2176 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 24
2177 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 24
2178 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
2179 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 24
2180 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
2181 P HRD144 Hereditary Mixed Polyposis Syndrome 24
2182 c LTH042 Lethal Congenital Contracture Syndrome 10 24
2183 PRT101 Poretti-Boltshauser Syndrome 24
2184 c JBR041 Joubert Syndrome 3 24
2185 c JBR024 Joubert Syndrome 14 24
2186 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
2187 LMB069 Lamb-Shaffer Syndrome 24
2188 c LBR008 Leber Congenital Amaurosis 13 24
2189 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
2190 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
2191 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
2192 WGN007 Wagner Vitreoretinopathy 24
2193 SCL056 Sclerosing Cholangitis, Neonatal 24
2194 c PRX057 Peroxisome Biogenesis Disorder 4a 24
2195 c AMY055 Amyotrophic Lateral Sclerosis 17 24
2196 c RTN190 Retinitis Pigmentosa 76 24
2197 c KBK003 Kabuki Syndrome 2 24
2198 c SCK015 Seckel Syndrome 2 24
2199 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
2200 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
2201 CHN070 Cohen-Gibson Syndrome 24
2202 c WLL038 Weill-Marchesani Syndrome 3 24
2203 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
2204 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24
2205 c PRG020 Paragangliomas 3 24
2206 c CRN111 Cranioectodermal Dysplasia 4 24
2207 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 24
2208 VCT004 Vacterl Association with Hydrocephalus 24
2209 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
2210 c PRX048 Peroxisome Biogenesis Disorder 10a 24
2211 c PRX046 Peroxisome Biogenesis Disorder 7a 24
2212 ALK024 Alkuraya-Kucinskas Syndrome 24
2213 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
2214 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
2215 c INF075 Inflammatory Bowel Disease 16 24
2216 LCT013 Lactase Deficiency, Congenital 24
2217 P VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 24
2218 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
2219 CMB045 Combined Oxidative Phosphorylation Deficiency 19 24
2220 FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 24
2221 c HYP525 Hypotrichosis 2 24
2222 c THR096 Three M Syndrome 3 24
2223 c CWD004 Cowden Syndrome 5 24
2224 c MCR228 Microphthalmia, Syndromic 13 23
2225 ZNC004 Zinc Deficiency, Transient Neonatal 23
2226 c STS007 Sotos Syndrome 2 23
2227 c OTF003 Otofaciocervical Syndrome 2 23
2228 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
2229 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 23
2230 c RTN067 Retinitis Pigmentosa 41 23
2231 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
2232 P OVR076 Ovarian Dysgenesis 2 23
2233 c JBR042 Joubert Syndrome 23 23
2234 MRF019 Marfan Lipodystrophy Syndrome 23
2235 c CRN209 Cornelia De Lange Syndrome 5 23
2236 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23
2237 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 23
2238 c NRC009 Narcolepsy 1 23
2239 c CLR114 Ciliary Dyskinesia, Primary, 30 23
2240 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
2241 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
2242 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 23
2243 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
2244 c AMY023 Amyotrophic Lateral Sclerosis Type 6 23
2245 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
2246 c DRR007 Diarrhea 7 23
2247 c AMY062 Amyotrophic Lateral Sclerosis 12 23
2248 c RTT008 Rett Syndrome, Congenital Variant 23
2249 c FNC046 Fanconi Anemia, Complementation Group P 23
2250 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
2251 c PLM128 Pulmonary Hypertension, Primary, 2 23
2252 c LCT011 Lactose Intolerance, Adult Type 23
2253 c NNN020 Noonan Syndrome 7 23
2254 c LTH031 Lethal Congenital Contracture Syndrome 6 23
2255 CHT006 Chitayat Syndrome 23
2256 c INF088 Inflammatory Bowel Disease 5 23
2257 c MRG015 Meier-Gorlin Syndrome 7 23
2258 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 23
2259 c WLL040 Weill-Marchesani Syndrome 4 23
2260 c SMT018 Smith-Mccort Dysplasia 2 23
2261 HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 23
2262 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 23
2263 c WRB004 Warburg Micro Syndrome 3 23
2264 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 23
2265 FNC030 Fanconi Anemia, Complementation Group G 23
2266 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 23
2267 SDH011 Sedoheptulokinase Deficiency 23
2268 c PRX052 Peroxisome Biogenesis Disorder 13a 23
2269 P FVL006 Foveal Hypoplasia 1 23
2270 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
2271 c RTN141 Retinitis Pigmentosa 39 23
2272 c ATR062 Atrial Septal Defect 1 23
2273 EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 23
2274 SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23
2275 GRW027 Growth Restriction, Severe, with Distinctive Facies 23
2276 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23
2277 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
2278 c PNT050 Pontocerebellar Hypoplasia, Type 11 23
2279 c DMN019 Diamond-Blackfan Anemia 4 23
2280 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
2281 CND012 Cone Dystrophy 4 23
2282 P DYS068 Dystonia 7, Torsion 23
2283 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 23
2284 c NGH027 Night Blindness, Congenital Stationary, Type 1c 23
2285 c DMN024 Diamond-Blackfan Anemia 7 23
2286 MTC078 Mitochondrial Dna Depletion Syndrome 11 23
2287 c PLM127 Pulmonary Hypertension, Primary, 3 23
2288 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 23
2289 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 23
2290 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 23
2291 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
2292 c STR040 Stargardt Disease 3 23
2293 BRW008 Brown-Vialetto-Van Laere Syndrome 2 23
2294 c ART128 Arthrogryposis, Distal, Type 6 23
2295 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
2296 c CRN110 Cranioectodermal Dysplasia 3 23
2297 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
2298 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
2299 c MCK034 Meckel Syndrome, Type 8 23
2300 LSC003 Luscan-Lumish Syndrome 23
2301 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 23
2302 c LKD021 Leukodystrophy, Hypomyelinating, 11 23
2303 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
2304 HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 23
2305 c MYP119 Myopathy, Myofibrillar, 7 23
2306 ALZ029 Alzheimer Disease Mitochondrial 23
2307 CHR487 Chromosome 8q21.11 Deletion Syndrome 23
2308 c ALB016 Albinism, Oculocutaneous, Type Vii 23
2309 CMP095 Complement Component 4a Deficiency 23
2310 SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 23
2311 c BRN128 Branchiootic Syndrome 3 23
2312 c OGC001 Oguchi Disease 1 23
2313 c LBR010 Leber Congenital Amaurosis 15 23
2314 c SPN323 Spinocerebellar Ataxia 41 23
2315 c ATR023 Atrial Septal Defect 5 23
2316 c THR069 Three M Syndrome 2 23
2317 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
2318 c NML007 Nemaline Myopathy 6 23
2319 c RTN144 Retinitis Pigmentosa 61 23
2320 LSS039 Lissencephaly 6 with Microcephaly 23
2321 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 23
2322 c DRR009 Diarrhea 6 23
2323 HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 23
2324 P TRC031 Trichorhinophalangeal Syndrome 23
2325 c CLR094 Ciliary Dyskinesia, Primary, 28 23
2326 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
2327 HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 23
2328 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
2329 PRK066 Parkinsonism with Spasticity, X-Linked 23
2330 CMP041 Complement Factor D Deficiency 23
2331 c SCK029 Seckel Syndrome 7 23
2332 c JBR037 Joubert Syndrome 26 23
2333 c HMC019 Hemochromatosis, Type 2b 23
2334 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 23
2335 c BRC060 Brachydactyly, Type E2 23
2336 DSN002 Desanto-Shinawi Syndrome 23
2337 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
2338 c MCR262 Microphthalmia, Syndromic 4 23
2339 HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 22
2340 c PRX043 Peroxisome Biogenesis Disorder 6b 22
2341 YSY001 Yao Syndrome 22
2342 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 22
2343 c JBR018 Joubert Syndrome 4 22
2344 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
2345 c ANR046 Aniridia 3 22
2346 c WRD029 Waardenburg Syndrome, Type 2b 22
2347 VNM002 Van Maldergem Syndrome 2 22
2348 c MCR137 Microphthalmia, Isolated 2 22
2349 CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 22
2350 P STR101 Striatal Degeneration, Autosomal Dominant 1 22
2351 c MCL030 Macular Degeneration, Age-Related, 10 22
2352 c PRX051 Peroxisome Biogenesis Disorder 6a 22
2353 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 22
2354 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
2355 SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 22
2356 c CTR166 Cataract 33, Multiple Types 22
2357 c LTH047 Lethal Congenital Contracture Syndrome 3 22
2358 c TWN010 Townes-Brocks Syndrome 2 22
2359 c CWD007 Cowden Syndrome 3 22
2360 c CHR565 Chromosomal Deletion Syndrome 22
2361 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
2362 c CTR131 Cataract 17, Multiple Types 22
2363 c RTN166 Retinitis Pigmentosa 69 22
2364 c EPS014 Episodic Ataxia, Type 3 22
2365 c SYM022 Symphalangism, Proximal, 1a 22
2366 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 22
2367 MYP120 Myopathy, Distal, with Rimmed Vacuoles 22
2368 c BRC108 Brachydactyly, Type A3 22
2369 c FBR029 Fibrochondrogenesis 1 22
2370 SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 22
2371 c AMY022 Amyotrophic Lateral Sclerosis Type 5 22
2372 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 22
2373 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
2374 c CFF011 Coffin-Siris Syndrome 6 22
2375 c BRC052 Brachydactyly, Type B2 22
2376 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
2377 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 22
2378 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
2379 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 22
2380 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
2381 c CRT085 Carotid Intimal Medial Thickness 2 22
2382 c JBR015 Joubert Syndrome 6 22
2383 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
2384 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
2385 c PRX050 Peroxisome Biogenesis Disorder 9b 22
2386 c CRN215 Cornelia De Lange Syndrome 4 22
2387 SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 22
2388 c MCK014 Meckel Syndrome, Type 5 22
2389 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
2390 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 22
2391 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22
2392 c CNG478 Congenital Diarrhea 22
2393 c DMN018 Diamond-Blackfan Anemia 5 22
2394 c HTR010 Heterotaxy, Visceral, 4, Autosomal 22
2395 CMB064 Combined Oxidative Phosphorylation Deficiency 24 22
2396 c MCL073 Macular Dystrophy, Vitelliform, 1 22
2397 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
2398 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
2399 c LSS009 Lissencephaly 3 22
2400 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
2401 MTC091