Genetic Diseases Category (7580 diseases)


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

# Family MCID Name MIFTS
1 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2 AMY082 Amyloidosis, Familial Visceral 47
3 FML026 Familial Lipoprotein Lipase Deficiency 53
4 P FML018 Familial Mediterranean Fever 74
5 FML089 Familial Thoracic Aortic Aneurysm and Dissection 52
6 P MLT048 Multiple Familial Trichoepithelioma 35
7 P FML011 Familial Adenomatous Polyposis 72
8 c FML346 Familial Adenomatous Polyposis 1 67
9 P SZR006 Seizure Disorder 61
10 c SZR007 Seizures, Benign Familial Infantile, 3 46
11 c SCN009 Scn1a-Related Seizure Disorders 9
12 c PRG126 Progressive Familial Heart Block 51
13 P HRT035 Heart Block, Congenital 46
14 PRM175 Primary Familial Brain Calcification 44
15 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
16 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
17 P HYP607 Hypercholesterolemia, Familial 82
18 P CND004 Candidiasis 63
19 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
20 c CND037 Candidiasis, Familial, 6 19
21 HYP190 Hypoalphalipoproteinemia, Primary 59
22 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
23 c SZR014 Seizures, Benign Familial Infantile, 1 26
24 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
25 c PRG042 Progressive Familial Heart Block, Type Ia 60
26 c LPD019 Lipodystrophy, Partial, Acquired 45
27 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 42
28 BNG006 Benign Familial Neonatal Epilepsy 40
29 c HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58
30 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 41
31 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 41
32 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 33
33 P HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 30
34 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
35 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 28
36 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 27
37 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
38 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 24
39 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 24
40 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
41 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 24
42 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 23
43 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 22
44 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 22
45 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 22
46 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22
47 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 22
48 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 22
49 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
50 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21
51 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 21
52 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
53 P PLY018 Polycythemia 60
54 c PRM012 Primary Polycythemia 56
55 c ACQ010 Acquired Polycythemia 43
56 c ATS209 Autosomal Dominant Secondary Polycythemia 20
57 c PLY005 Polycythemia Due to Hypoxia 6
58 P BNG026 Benign Neonatal Seizures 39
59 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 39
60 FTL002 Fatal Familial Insomnia 50
61 P FML052 Familial Cold Autoinflammatory Syndrome 53
62 P EPS030 Episodic Kinesigenic Dyskinesia 1 49
63 c MYC068 Myoclonic Epilepsy of Infancy 38
64 c FML157 Familial Male-Limited Precocious Puberty 31
65 P EPL198 Epilepsy, Myoclonic Juvenile 30
66 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
67 c EPL155 Epilepsy, Progressive Myoclonic, 8 27
68 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 25
69 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
70 c EPL134 Epilepsy, Progressive Myoclonic 7 24
71 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
72 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
73 c EPS013 Episodic Kinesigenic Dyskinesia 2 23
74 c MYC086 Myoclonic Epilepsy, Juvenile 4 18
75 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
76 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
77 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
78 P ATT003 Attenuated Familial Adenomatous Polyposis 52
79 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 47
80 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 46
81 P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 34
82 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 34
83 c CND034 Candidiasis, Familial, 2 30
84 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 19
85 MTR030 Mitral Valve Prolapse, Familial, X-Linked 24
86 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 14
87 P HYP724 Hyperlipoproteinemia, Type Iii 61
88 c HYP731 Hyperaldosteronism, Familial, Type I 56
89 P PTT006 Pituitary Adenoma 54
90 c PTT056 Pituitary Adenoma 1, Multiple Types 51
91 c PRG043 Progressive Familial Heart Block, Type Ib 42
92 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
93 c HYP819 Hyperlipoproteinemia, Type Id 19
94 c PTT061 Pituitary Adenoma 3, Multiple Types 14
95 PRD013 Periodic Fever, Familial, Autosomal Dominant 64
96 c ALZ056 Alzheimer Disease 3 49
97 CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 34
98 c ALZ045 Alzheimer Disease 9 24
99 c ALZ015 Alzheimer Disease 6 24
100 c ALZ062 Alzheimer Disease 19 22
101 c ALZ061 Alzheimer Disease 15 19
102 c ALZ032 Alzheimer Disease 18 18
103 c ALZ059 Alzheimer Disease 13 17
104 c ALZ031 Alzheimer Disease 17 15
105 c ALZ014 Alzheimer Disease 16 15
106 c ALZ060 Alzheimer Disease 14 15
107 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
108 P FML012 Familial Partial Lipodystrophy 52
109 c FML023 Familial Hemiplegic Migraine 50
110 P HMP006 Hemiplegic Migraine 49
111 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
112 c HYP768 Hyperlipoproteinemia, Type I 42
113 LRY047 Laryngeal Abductor Paralysis 24
114 CNV009 Convulsions Benign Familial Neonatal Dominant Form 19
115 c LPD021 Lipodystrophy, Familial Partial, Type 3 50
116 c PRG101 Progressive Familial Heart Block, Type Ii 34
117 P FML156 Familial Hyperaldosteronism 36
118 CYL004 Cylindromatosis, Familial 33
119 P NTR004 Neutropenia 61
120 c SVR003 Severe Congenital Neutropenia 58
121 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
122 c HYP600 Hyperaldosteronism, Familial, Type Ii 36
123 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
124 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 35
125 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
126 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 29
127 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
128 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 23
129 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
130 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
131 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
132 c NTR045 Neutropenia, Chronic Familial 20
133 TMP005 Temporal Epilepsy, Familial 20
134 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 16
135 GNV002 Genu Valgum, St. Helena Familial 12
136 c ELN001 Elane-Related Neutropenia 7
137 P PRC038 Precocious Puberty, Male-Limited 43
138 FML063 Familial Glucocorticoid Deficiency 41
139 c MGR032 Migraine, Familial Hemiplegic, 1 39
140 c SZR023 Seizures, Benign Familial Neonatal, 2 31
141 BKS003 Beukes Hip Dysplasia 29
142 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
143 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
144 P EPL164 Epilepsy 73
145 P ATR011 Atrial Fibrillation 69
146 P HYP069 Hyperparathyroidism 59
147 c SCN007 Secondary Hyperparathyroidism 56
148 c FML001 Familial Atrial Fibrillation 53
149 P PRN026 Porencephaly 49
150 c BNG023 Benign Familial Infantile Epilepsy 44
151 c HYP243 Hyperparathyroidism 1 37
152 c FML084 Familial Porencephaly 32
153 c ART028 Aortic Aneurysm, Familial Thoracic 4 27
154 c CND036 Candidiasis, Familial, 4 25
155 P ACN018 Acne Inversa, Familial, 1 22
156 c HYP720 Hyperparathyroidism 4 18
157 c ACQ029 Acquired Porencephaly 13
158 c DPD002 Depdc5-Related Epilepsy 5
159 c KCN020 Kcnt1-Related Epilepsy 4
160 HMT008 Hematuria, Benign Familial 43
161 P ADV001 Advanced Sleep Phase Syndrome 36
162 IMM153 Immunodeficiency 51 21
163 MCR031 Macrocephaly, Benign Familial 15
164 P HYP818 Hypobetalipoproteinemia, Familial, 1 51
165 FML075 Familial Isolated Hyperparathyroidism 45
166 c HYP290 Hypobetalipoproteinemia, Familial, 2 39
167 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
168 c MGR030 Migraine, Familial Hemiplegic, 2 33
169 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 24
170 c SZR016 Seizures, Benign Familial Infantile, 2 22
171 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
172 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44
173 DYS182 Dysphasia, Familial Developmental 37
174 P FML168 Familial Isolated Pituitary Adenoma 28
175 c BRS088 Breast-Ovarian Cancer, Familial 3 21
176 c BRS098 Breast-Ovarian Cancer, Familial 4 19
177 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 14
178 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
179 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
180 P TRT019 Torticollis 49
181 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 40
182 CPL013 Capillary Malformations, Congenital 37
183 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
184 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
185 c BNG079 Benign Adult Familial Myoclonic Epilepsy 32
186 c HYP804 Hyperlipidemia, Combined, 1 31
187 c MTR080 Mitral Valve Prolapse 1 28
188 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 26
189 c CNG129 Congenital Torticollis 24
190 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 24
191 THM023 Thiemann Disease 23
192 c MTR083 Mitral Valve Prolapse 3 21
193 c MTR077 Mitral Valve Prolapse 2 19
194 CPP001 Copper Deficiency, Familial Benign 19
195 CRN069 Corneal Hypesthesia, Familial 16
196 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 15
197 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 14
198 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 14
199 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
200 OSS006 Ossicular Malformations, Familial 11
201 c TRT007 Torticollis, Familial 9
202 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
203 P PLR004 Pleuropulmonary Blastoma 60
204 P HYP614 Hyperlipidemia, Familial Combined 56
205 P HYP599 Hypoparathyroidism, Familial Isolated 37
206 c SZR022 Seizures, Benign Familial Neonatal, 1 36
207 EXD009 Exudative Vitreoretinopathy 2, X-Linked 32
208 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
209 c PLR018 Pleuropulmonary Blastoma Type 1 10
210 c PLR020 Pleuropulmonary Blastoma Type 3 8
211 c PLR019 Pleuropulmonary Blastoma Type 2 8
212 c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 65
213 VTM028 Vitamin E, Familial Isolated Deficiency of 52
214 c BRS110 Breast-Ovarian Cancer, Familial 1 37
215 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 34
216 c MYC083 Myoclonic Epilepsy, Familial Infantile 31
217 c FML334 Familial Candidiasis 23
218 c BRS111 Breast-Ovarian Cancer, Familial 2 19
219 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 14
220 P ART067 Aortic Aneurysm, Familial Thoracic 1 67
221 P TMP001 Temporal Lobe Epilepsy 57
222 EWN002 Ewing's Family of Tumors 57
223 P AMY084 Amyloidosis, Finnish Type 52
224 P EXD001 Exudative Vitreoretinopathy 50
225 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 47
226 P PSD003 Pseudohypoaldosteronism 46
227 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 46
228 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 40
229 c PSD092 Pseudohypoaldosteronism, Type Iie 39
230 c FML117 Familial Cold Autoinflammatory Syndrome 2 35
231 c EPL128 Epilepsy, Familial Temporal Lobe, 3 32
232 c EXD010 Exudative Vitreoretinopathy 6 20
233 c EXD012 Exudative Vitreoretinopathy 7 20
234 c EXD007 Exudative Vitreoretinopathy 3 19
235 c TRN053 Transient Pseudohypoaldosteronism 19
236 c PSD068 Pseudohypoaldosteronism, Type Iic 19
237 c PSD094 Pseudohypoaldosteronism, Type Iib 18
238 IMM172 Immunodeficiency 34 17
239 DWR023 Dwarfism, Familial, with Muscle Spasms 15
240 c ART138 Aortic Aneurysm, Familial Abdominal, 1 66
241 c MNN043 Meningioma, Familial 63
242 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
243 P FBR031 Febrile Seizures 56
244 P HYP050 Hyperinsulinemic Hypoglycemia 55
245 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
246 P MYC033 Myoclonus 46
247 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 39
248 P BNG002 Benign Meningioma 35
249 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 28
250 c TRC095 Trichoepithelioma, Multiple Familial, 1 25
251 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 24
252 c FML347 Familial Adenomatous Polyposis 2 24
253 c EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 24
254 c ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 23
255 c FBR072 Febrile Seizures, Familial, 11 23
256 c MYC089 Myoclonus, Familial, 1 23
257 c CND025 Candidiasis, Familial, 8 22
258 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 20
259 c ACN016 Acne Inversa, Familial, 3 20
260 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 19
261 c SZR020 Seizures, Benign Familial Infantile, 5 17
262 c ATS379 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 11
263 P HYP040 Hypospadias 59
264 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
265 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
266 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
267 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
268 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
269 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
270 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
271 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
272 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
273 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
274 c EPL115 Epilepsy, Familial Temporal Lobe, 2 38
275 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
276 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
277 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
278 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
279 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
280 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
281 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
282 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
283 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
284 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
285 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
286 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
287 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
288 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
289 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
290 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
291 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
292 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
293 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
294 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
295 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
296 P GLM015 Glomerulopathy with Fibronectin Deposits 2 33
297 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
298 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
299 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
300 c SPS031 Spastic Paraplegia 23 31
301 P SPS012 Spastic Paraplegia 3a 31
302 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
303 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
304 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
305 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
306 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
307 c SPS039 Spastic Paraplegia 5a 29
308 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
309 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
310 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
311 c SPS092 Spastic Paraplegia 11 28
312 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
313 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
314 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
315 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
316 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
317 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
318 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
319 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
320 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
321 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
322 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
323 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
324 MYX012 Myxoma, Intracardiac 27
325 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
326 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
327 c SPS036 Spastic Paraplegia 3 26
328 c SPS021 Spastic Paraplegia 10 26
329 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
330 c HRD186 Hereditary Spastic Paraplegia 51 26
331 c SPS025 Spastic Paraplegia 15 25
332 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
333 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
334 c SPS027 Spastic Paraplegia 17 24
335 JNT001 Joint Laxity, Familial 23
336 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 23
337 c SPS013 Spastic Paraplegia 8 23
338 c CRD176 Cardiomyopathy, Familial Restrictive, 1 22
339 c SPS020 Spastic Paraplegia 1 22
340 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
341 c SPS037 Spastic Paraplegia 31 21
342 c SPS023 Spastic Paraplegia 13 19
343 c ART105 Aortic Aneurysm, Familial Thoracic 7 19
344 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
345 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
346 c SPS028 Spastic Paraplegia 18 19
347 c SPS042 Spastic Paraplegia 9 18
348 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
349 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
350 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
351 c SPS034 Spastic Paraplegia 26 18
352 c SPS032 Spastic Paraplegia 24 18
353 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
354 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
355 c SPS029 Spastic Paraplegia 19 17
356 c PST093 Posterior Hypospadias 17
357 c SPS035 Spastic Paraplegia 29 17
358 c SPS033 Spastic Paraplegia 25 17
359 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
360 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
361 c SPS026 Spastic Paraplegia 16 16
362 c SPS161 Spastic Paraplegia 32 16
363 c SPS080 Spastic Paraplegia 51 16
364 c HRD188 Hereditary Spastic Paraplegia 72 16
365 c SPS022 Spastic Paraplegia 12 16
366 c CRD098 Cardiomyopathy, Familial Restrictive, 3 16
367 c SPS024 Spastic Paraplegia 14 15
368 c SPS038 Spastic Paraplegia 39 15
369 c FML348 Familial Pityriasis Rubra Pilaris 13
370 c SPS040 Spastic Paraplegia 5b 12
371 c SPS230 Spastic Paraplegia Type 49 12
372 c HYP545 Hypospadias 3, Autosomal 12
373 c SPS165 Spastic Paraplegia 47 11
374 P CNG001 Congenital Myasthenic Syndrome 66
375 P LYS001 Loeys-Dietz Syndrome 62
376 c PRM005 Primary Hyperparathyroidism 60
377 P SCK002 Sick Sinus Syndrome 54
378 c LYS019 Loeys-Dietz Syndrome 1 54
379 c LYS021 Loeys-Dietz Syndrome 3 53
380 P OPT070 Optic Nerve Hypoplasia, Bilateral 49
381 c MYS051 Myasthenic Syndrome, Congenital, 5 48
382 P PLM025 Pulmonary Venoocclusive Disease 47
383 c LYS017 Loeys-Dietz Syndrome 4 47
384 c LYS018 Loeys-Dietz Syndrome 2 42
385 c MYS078 Myasthenic Syndrome, Congenital, 14 40
386 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 40
387 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 40
388 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
389 c MYS052 Myasthenic Syndrome, Congenital, 10 38
390 FML307 Familial Calcium Pyrophosphate Deposition 37
391 c MYS075 Myasthenic Syndrome, Congenital, 13 32
392 c MYS067 Myasthenic Syndrome, Congenital, 22 29
393 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 28
394 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 26
395 c LYS020 Loeys-Dietz Syndrome 5 26
396 VNT032 Ventricular Tachycardia, Familial 26
397 c FML339 Familial Adenomatous Polyposis 4 24
398 c MYS076 Myasthenic Syndrome, Congenital, 8 24
399 c MYS056 Myasthenic Syndrome, Congenital, 17 24
400 P HYD015 Hydroa Vacciniforme 24
401 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
402 c MYS074 Myasthenic Syndrome, Congenital, 12 23
403 c SCK017 Sick Sinus Syndrome 1 23
404 c MYS064 Myasthenic Syndrome, Congenital, 16 22
405 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 22
406 c MYS070 Myasthenic Syndrome, Congenital, 19 21
407 c MYS065 Myasthenic Syndrome, Congenital, 18 21
408 c MYS077 Myasthenic Syndrome, Congenital, 15 21
409 IMM099 Immunodeficiency 33 21
410 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 20
411 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
412 OST150 Osteodysplasia, Familial, Anderson Type 18
413 c SCK022 Sick Sinus Syndrome 3 17
414 c FML309 Familial Infantile Bilateral Striatal Necrosis 13
415 SHL003 Shoulder Girdle Defect Mental Retardation Familial 13
416 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 12
417 P CSH002 Cushing Syndrome, Familial 11
418 c HYD016 Hydroa Vacciniforme, Familial 10
419 UMB003 Umbilicus, Familial Flat 8
420 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
421 c HMR010 Hemeralopia, Congenital Essential 4
422 P HMR011 Hemeralopia, Familial 3
423 c EXD008 Exudative Vitreoretinopathy 1 73
424 c LPM012 Lipomatosis, Multiple 66
425 P ERY058 Erythrocytosis, Familial, 1 58
426 P LPM005 Lipomatosis 53
427 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 48
428 c ERY048 Erythrocytosis, Familial, 2 48
429 FML036 Familial Periodic Paralysis 46
430 DSM003 Desmoid Disease, Hereditary 44
431 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 44
432 c CHR630 Chorea, Benign Hereditary 35
433 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33
434 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 30
435 c EPS039 Episodic Pain Syndrome, Familial, 1 27
436 ESN023 Eosinophilia, Familial 23
437 c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21
438 c EPL150 Epilepsy, Familial Temporal Lobe, 7 20
439 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 20
440 c ERY032 Erythrocytosis, Familial, 4 17
441 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16
442 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13
443 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13
444 c ALZ049 Alzheimer Disease 2 61
445 P ANT006 Antiphospholipid Syndrome 60
446 STT041 Stuttering 55
447 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 52
448 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 43
449 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 38
450 c EPL114 Epilepsy, Familial Temporal Lobe, 1 37
451 INT304 Interstitial Pneumonitis, Desquamative, Familial 36
452 CHR525 Chromosome Xq26.3 Duplication Syndrome 32
453 c ART071 Aortic Aneurysm, Familial Thoracic 6 32
454 P PRD017 Periodic Paralyses 30
455 P FML313 Familial Progressive Hyperpigmentation 28
456 c ANT041 Antiphospholipid Syndrome, Familial 26
457 c GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 26
458 c CND033 Candidiasis, Familial, 1 21
459 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 20
460 c FML344 Familial Mediterranean Fever, Autosomal Dominant 19
461 c EPL081 Epilepsy, Familial Temporal Lobe, 5 19
462 c FBR069 Febrile Seizures, Familial, 4 18
463 c ERY031 Erythrocytosis, Familial, 3 18
464 c EPL152 Epilepsy, Familial Temporal Lobe, 8 17
465 c FML159 Familial Periodic Paralyses 17
466 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
467 DSC014 Discoid Fibromas, Familial Multiple 17
468 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 17
469 P FML048 Familial Avascular Necrosis of the Femoral Head 17
470 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
471 P XNC004 X Inactivation, Familial Skewed, 1 14
472 MLT051 Multiple Fibrofolliculoma Familial 6
473 P AMY004 Amyloidosis 69
474 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
475 P HLP001 Holoprosencephaly 65
476 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
477 c AMY009 Amyloidosis Aa 56
478 c HLP023 Holoprosencephaly 1 50
479 P FML035 Familial Hyperlipidemia 50
480 c HRD039 Hereditary Amyloidosis 48
481 c HYP739 Hyperlipoproteinemia, Type Iv 47
482 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
483 c ALZ050 Alzheimer Disease 5 46
484 c HLP024 Holoprosencephaly 2 40
485 c HYP396 Hypercholesterolemia, Autosomal Recessive 40
486 c HLP029 Holoprosencephaly 4 39
487 c HLP026 Holoprosencephaly 3 38
488 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 38
489 P HYP733 Hypercalciuria, Absorptive, 2 34
490 ASP026 Asplenia, Isolated Congenital 32
491 c HLP028 Holoprosencephaly 5 32
492 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 30
493 c FML299 Familial Adenomatous Polyposis 3 27
494 FML206 Familial Cerebral Saccular Aneurysm 26
495 c HLP025 Holoprosencephaly 9 25
496 P INT260 Intracranial Berry Aneurysm 24
497 c HLP016 Holoprosencephaly 11 24
498 DCR009 Dicer1-Related Disorders 23
499 c HLP027 Holoprosencephaly 7 23
500 c SCK014 Sick Sinus Syndrome 2 23
501 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
502 c HLP022 Holoprosencephaly 8 22
503 LNT008 Lentiginosis, Inherited Patterned 21
504 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
505 c PRM150 Primary Localized Amyloidosis 19
506 c AHM002 Ah Amyloidosis 17
507 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
508 c CND027 Candidiasis, Familial, 3 16
509 c NNS019 Nonsyndromic Holoprosencephaly 15
510 c SZR025 Seizures, Benign Familial Neonatal, 3 14
511 GGN006 Gigantiform Cementoma, Familial 14
512 c FCL065 Facial Palsy, Familial Recurrent Peripheral 14
513 c FBR067 Febrile Seizures, Familial, 9 13
514 c HYP809 Hypercalciuria, Absorptive, 1 13
515 c HLP021 Holoprosencephaly 6 13
516 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13
517 c ANR011 Aneurysm, Intracranial Berry, 2 13
518 c ANR028 Aneurysm, Intracranial Berry, 3 12
519 c SZR011 Seizures, Benign Familial Infantile, 4 12
520 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 11
521 c ANR022 Aneurysm, Intracranial Berry, 4 11
522 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
523 c FBR076 Febrile Seizures, Familial, 7 10
524 c ANR023 Aneurysm, Intracranial Berry, 7 10
525 c ANR029 Aneurysm, Intracranial Berry, 6 10
526 c ANR024 Aneurysm, Intracranial Berry, 9 10
527 c ANR030 Aneurysm, Intracranial Berry, 8 10
528 c ANR025 Aneurysm, Intracranial Berry, 10 10
529 c ANR039 Aneurysm, Intracranial Berry, 11 10
530 c ANR026 Aneurysm, Intracranial Berry, 5 10
531 P RCR003 Recurrent Peripheral Facial Palsy 9
532 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 8
533 THR043 Thrombomodulin Anomalies, Familial 7
534 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 6
535 FML088 Familial Streblodactyly 6
536 c DYS165 Dysfibrinogenemia, Congenital 37
537 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
538 DYS140 Dyskinesia, Familial, with Facial Myokymia 29
539 DGT005 Digital Arthropathy-Brachydactyly, Familial 25
540 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 24
541 c EPS028 Episodic Pain Syndrome, Familial, 3 22
542 c ATR072 Atrial Fibrillation, Familial, 13 20
543 c FML270 Familial Cold Autoinflammatory Syndrome 4 20
544 c ATR059 Atrial Fibrillation, Familial, 11 19
545 c ATR069 Atrial Fibrillation, Familial, 12 19
546 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 18
547 c ATR068 Atrial Fibrillation, Familial, 14 18
548 c ERY063 Erythrocytosis, Familial, 5 16
549 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
550 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
551 P PRK057 Parkinson Disease, Late-Onset 77
552 P CRY007 Cryoglobulinemia, Familial Mixed 55
553 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 53
554 c ALZ054 Alzheimer Disease 4 47
555 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
556 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
557 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 42
558 c ERL056 Early-Onset Parkinson's Disease 40
559 c TYP024 Type Ii Mixed Cryoglobulinemia 40
560 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 40
561 c PRK025 Parkinson Disease 10 35
562 c HRD173 Hereditary Late-Onset Parkinson Disease 34
563 P HYP078 Hypertrophy of Breast 33
564 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 33
565 c PRK085 Parkinson Disease 1, Autosomal Dominant 32
566 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
567 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 29
568 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
569 c PRK093 Parkinson Disease 8, Autosomal Dominant 28
570 c PRK022 Parkinson Disease 12 26
571 c PSD093 Pseudohypoaldosteronism, Type Iid 26
572 c PRK065 Parkinson Disease 20, Early-Onset 25
573 CD8002 Cd8 Deficiency, Familial 25
574 P TTH010 Tooth Agenesis, Selective, 1 24
575 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
576 HYP344 Hyperthyroidism, Familial Gestational 24
577 P FML340 Familial Episodic Pain Syndrome 24
578 c PRK052 Parkinson Disease 17 23
579 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
580 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
581 c PRK070 Parkinson Disease 21 22
582 c JVN058 Juvenile-Onset Parkinson's Disease 22
583 c PRK008 Parkinson Disease Type 9 22
584 HYP279 Hypercholanemia, Familial 22
585 c TTH013 Tooth Agenesis, Selective, 4 22
586 CRR016 Cirrhosis, Familial 21
587 GLC043 Glucocorticoid Deficiency 2 21
588 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
589 CLL041 Collagenoma, Familial Cutaneous 20
590 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
591 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
592 c ATR039 Atrial Fibrillation, Familial, 4 19
593 c ATR035 Atrial Fibrillation, Familial, 6 19
594 c ART118 Aortic Aneurysm, Familial Thoracic 9 19
595 c CND031 Candidiasis, Familial, 9 19
596 c HYP678 Hypertrophy of the Breast, Juvenile 19
597 c PRK083 Parkinson Disease 22, Autosomal Dominant 19
598 c ATR061 Atrial Fibrillation, Familial, 10 19
599 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
600 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
601 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 18
602 c ATR092 Atrial Fibrillation, Familial, 15 18
603 c ATR037 Atrial Fibrillation, Familial, 7 18
604 c LRR001 Lrrk2-Related Parkinson Disease 18
605 c ATR038 Atrial Fibrillation, Familial, 3 17
606 c ATR085 Atrial Fibrillation, Familial, 18 17
607 c ART133 Aortic Aneurysm, Familial Thoracic 11 17
608 c ART107 Aortic Aneurysm, Familial Thoracic 8 17
609 c TTH012 Tooth Agenesis, Selective, 3 17
610 c TTH011 Tooth Agenesis, Selective, 2 17
611 c PRK058 Parkinson Disease 16 17
612 GLC053 Glucocorticoid Deficiency 3 16
613 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
614 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
615 c ATR070 Atrial Fibrillation, Familial, 9 16
616 c TTH027 Tooth Agenesis, Selective, 8 16
617 c TTH025 Tooth Agenesis, Selective, 9 15
618 c TTH026 Tooth Agenesis, Selective, 7 15
619 c TTH017 Tooth Agenesis, Selective, 5 14
620 c MXD037 Mixed Cryoglobulinemia Type Iii 12
621 c ERY064 Erythrocytosis, Familial, 6 12
622 c HYP333 Hyperlipidemia, Combined, 2 11
623 c XNC002 X Inactivation, Familial Skewed, 2 10
624 c VPS003 Vps35-Related Parkinson Disease 10
625 FML160 Familial Spastic Paralysis 6
626 c SYS001 Systemic Lupus Erythematosus 88
627 c CHR089 Chronic Kidney Failure 73
628 P KDN018 Kidney Disease 71
629 c ART115 Aortic Valve Disease 1 70
630 P PLM036 Pulmonary Fibrosis 70
631 P LPS004 Lupus Erythematosus 69
632 c MGR028 Migraine with or Without Aura 1 69
633 c ART101 Aortic Valve Disease 2 68
634 c WLM013 Wilms Tumor 1 68
635 c MLT160 Multiple Endocrine Neoplasia, Type Iia 67
636 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
637 HYP020 Hyperprolactinemia 64
638 c WLM018 Wilms Tumor 5 64
639 P OVR049 Ovarian Disease 63
640 P MYS005 Myositis 62
641 P HMN010 Hemangioma 61
642 c MLT159 Multiple Endocrine Neoplasia, Type Iib 59
643 P KDN017 Kidney Cancer 59
644 c VSC019 Vesicoureteral Reflux 1 58
645 P PMP005 Pemphigus Vulgaris 58
646 P MLT074 Multiple Endocrine Neoplasia 56
647 c ACT071 Acute Kidney Failure 54
648 P OTS001 Otosclerosis 54
649 c MLT086 Multiple Endocrine Neoplasia, Type Iv 53
650 PSD021 Pseudovaginal Perineoscrotal Hypospadias 53
651 P ART018 Aortic Valve Insufficiency 50
652 ACH015 Achalasia, Familial Esophageal 49
653 P MGR001 Migraine Without Aura 48
654 HRT015 Heritable Pulmonary Arterial Hypertension 48
655 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 43
656 c FML297 Familial Thyroid Dyshormonogenesis 42
657 c PMP006 Pemphigus Vulgaris, Familial 41
658 P MYG005 Myoglobinuria 41
659 c WLM011 Wilms Tumor 6 40
660 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 40
661 PRM237 Primary Hypomagnesemia 39
662 DSQ001 Desquamative Interstitial Pneumonia 38
663 c SYS043 Systemic Lupus Erythematosus 1 38
664 c MYG007 Myoglobinuria, Recurrent 38
665 FBR089 Fibrosclerosis, Multifocal 37
666 FML304 Familial Isolated Dilated Cardiomyopathy 36
667 c SYS061 Systemic Lupus Erythematosus 16 36
668 P HRD009 Hereditary Wilms' Tumor 35
669 SHR108 Short Stature, Idiopathic, X-Linked 34
670 c CRN236 Corneal Dystrophy, Lattice Type I 33
671 c PRP091 Porphyria Cutanea Tarda, Type I 33
672 c PSD090 Pseudohypoaldosteronism, Type Iia 33
673 P LTT001 Lattice Corneal Dystrophy 31
674 HYP249 Hyperthyroidism, Nonautoimmune 31
675 c PRV019 Periventricular Nodular Heterotopia 1 31
676 c OTS005 Otosclerosis 1 30
677 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 30
678 P FML284 Familial Vesicoureteral Reflux 30
679 c HYP699 Hyperekplexia 1 29
680 P THY061 Thyroid Dyshormonogenesis 2a 28
681 c MLG144 Malignant Hemangioma 28
682 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
683 c FML269 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 27
684 c ALZ012 Alzheimer Disease 12 27
685 c THY071 Thyroid Dyshormonogenesis 1 27
686 c ALZ016 Alzheimer Disease 8 26
687 HYP677 Hyperthyroxinemia, Familial Dysalbuminemic 25
688 c THY056 Thyroid Dyshormonogenesis 3 25
689 c EPL113 Epilepsy, Familial Temporal Lobe, 4 25
690 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 25
691 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 25
692 c THY063 Thyroid Dyshormonogenesis 4 25
693 c ALZ053 Alzheimer Disease 7 25
694 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
695 c FML324 Familial Porphyria Cutanea Tarda 24
696 FLR007 Failure of Tooth Eruption, Primary 24
697 HRD207 Hereditary Transthyretin Amyloidosis 24
698 EDC001 Edict Syndrome 24
699 VLV047 Volvulus of Midgut 23
700 c LTT008 Lattice Corneal Dystrophy Type Ii 23
701 c SYS038 Systemic Lupus Erythematosus 2 23
702 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
703 c SYS069 Systemic Lupus Erythematosus 6 23
704 CRT040 Corticosterone Methyloxidase Type Ii Deficiency 23
705 c FBR073 Febrile Seizures, Familial, 1 22
706 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 22
707 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 22
708 FCT029 Factor V and Factor Viii, Combined Deficiency of, 1 22
709 c ALZ057 Alzheimer Disease 10 21
710 FML293 Familial Isolated Restrictive Cardiomyopathy 21
711 c PRV018 Periventricular Nodular Heterotopia 7 21
712 c HYP510 Hyperekplexia 2 20
713 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 20
714 c WLM005 Wilms Tumor 2 20
715 c ACQ004 Acquired Hemangioma 20
716 c HYP825 Hyperekplexia 4 19
717 c PRV016 Periventricular Nodular Heterotopia 6 19
718 c SYS040 Systemic Lupus Erythematosus 10 19
719 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 19
720 c WLM017 Wilms Tumor 4 19
721 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
722 c HYP519 Hyperekplexia 3 18
723 c THY062 Thyroid Dyshormonogenesis 5 18
724 c THY110 Thyroid Dyshormonogenesis 6 18
725 c VSC046 Vesicoureteral Reflux 8 18
726 c MGR036 Migraine with or Without Aura 2 18
727 c VSC025 Vesicoureteral Reflux 3 17
728 c MGR023 Migraine Without Aura 4 17
729 c MGR024 Migraine with or Without Aura 5 17
730 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 17
731 FML325 Familial Cervical Artery Dissection 17
732 c MGR038 Migraine with or Without Aura 10 17
733 c VSC020 Vesicoureteral Reflux 2 16
734 c MYG006 Myoglobinuria, Autosomal Dominant 16
735 c MGR040 Migraine with or Without Aura 12 16
736 c PLM044 Pulmonary Fibrosis, Familial 16
737 ANG063 Angiolipomatosis, Familial 16
738 c OTS007 Otosclerosis 3 16
739 c WLM015 Wilms Tumor 3 15
740 c OTS012 Otosclerosis 10 15
741 c SYS041 Systemic Lupus Erythematosus 9 15
742 c SYS046 Systemic Lupus Erythematosus 3 15
743 c MGR022 Migraine with or Without Aura 3 15
744 c EPL124 Epilepsy, Familial Temporal Lobe, 6 15
745 c PRV021 Periventricular Nodular Heterotopia 8 15
746 c FBR074 Febrile Seizures, Familial, 6 15
747 c FBR075 Febrile Seizures, Familial, 2 15
748 c FBR071 Febrile Seizures, Familial, 5 15
749 c MGR039 Migraine with or Without Aura 11 14
750 c SYS065 Systemic Lupus Erythematosus 11 14
751 c FBR068 Febrile Seizures, Familial, 10 14
752 c SYS053 Systemic Lupus Erythematosus 5 14
753 CMD004 Comedones, Familial Dyskeratotic 14
754 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
755 P SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 14
756 c OTS010 Otosclerosis 7 14
757 ERY057 Erythema Nodosum, Familial 14
758 c OTS011 Otosclerosis 8 14
759 c SYS055 Systemic Lupus Erythematosus 12 13
760 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 13
761 c MGR042 Migraine with or Without Aura 13 13
762 c OTS008 Otosclerosis 4 13
763 c SPR097 Sporadic Hyperekplexia 13
764 c SYS047 Systemic Lupus Erythematosus 7 13
765 c SYS051 Systemic Lupus Erythematosus 4 13
766 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 13
767 c BCT018 Bacterial Myositis 13
768 DGH001 Doughnut Lesions of Skull, Familial 12
769 c VRL025 Viral Myositis 12
770 c VSC043 Vesicoureteral Reflux 6 12
771 c ART151 Aortic Aneurysm, Familial Abdominal, 2 12
772 c PRV013 Periventricular Nodular Heterotopia 3 12
773 c SYS048 Systemic Lupus Erythematosus 8 11
774 c SYS045 Systemic Lupus Erythematosus 14 11
775 c SYS052 Systemic Lupus Erythematosus 13 11
776 c SYS067 Systemic Lupus Erythematosus 15 11
777 c OTS006 Otosclerosis 2 11
778 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 11
779 c VSC042 Vesicoureteral Reflux 5 11
780 c MGR037 Migraine with or Without Aura 8 11
781 c RNL016 Renal Infectious Disease 11
782 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
783 c OTS009 Otosclerosis 5 10
784 IMM016 Immune Deficiency, Familial Variable 10
785 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 10
786 c VSC040 Vesicoureteral Reflux 4 10
787 c VSC041 Vesicoureteral Reflux 7 10
788 NGY001 Nguyen Syndrome 10
789 c CNG346 Congenital Aortic Valve Insufficiency 10
790 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 10
791 c ADV008 Advanced Sleep Phase Syndrome 2 9
792 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 9
793 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 9
794 c RNR002 Ren-Related Kidney Disease 9
795 c KDN012 Kidney Carcinoma in Situ 8
796 P STT036 Stuttering, Familial Persistent, 3 8
797 c STT039 Stuttering, Familial Persistent, 4 8
798 c LCL003 Localized Pulmonary Fibrosis 6
799 c FML158 Familial Hemangioma 6
800 c RNL033 Renal Carcinoma, Familial 5
801 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
802 c OTS004 Otosclerosis, Familial 5
803 c MYG002 Myoglobinuria Dominant Form 4
804 c OVR071 Ovarian Insufficiency, Familial 4
805 c SZR003 Seizures Benign Familial Neonatal Recessive Form 4
806 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
807 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
808 HYP197 Hypofibrinogenemia, Familial 3
809 ANT031 Anterior Pituitary Insufficiency, Familial 3
810 FML082 Familial Partial Paralysis 3
811 NPH022 Nephropathy Familial with Hyperuricemia 3
812 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
813 EPL014 Epilepsy, Partial, Familial 2
814 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 2
815 PLM063 Pulmonary Hypoplasia Familial Primary 2
816 HYP177 Hypertensive Hypokalemia Familial 2
817 DST014 Distal Primary Acidosis, Familial 2
818 PLM055 Pulmonary Artery Familial Dilatation 2
819 RGH002 Right Atrium Familial Dilatation 2
820 NSL012 Nasal Polyposis, Familial 2
821 P HMR012 Hemorrhagic Fever 60
822 P HYP750 Hypertriglyceridemia, Familial 58
823 ACT164 Actinic Prurigo 49
824 c HYP555 Hypertriglyceridemia, Transient Infantile 43
825 c VRL017 Viral Hemorrhagic Fever 36
826 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
827 c EPL187 Epilepsy, Familial Focal, with Variable Foci 2 18
828 c EPL192 Epilepsy, Familial Focal, with Variable Foci 3 18
829 c EPS027 Episodic Pain Syndrome, Familial, 2 17
830 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
831 P GLL022 Guillain-Barre Syndrome 64
832 P BRG001 Brugada Syndrome 62
833 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
834 P ACQ022 Acquired Generalized Lipodystrophy 54
835 c CNG012 Congenital Generalized Lipodystrophy 52
836 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
837 FML091 Familial Tumoral Calcinosis 46
838 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 44
839 LCR013 Lacrimal Duct Defect 42
840 c BRG005 Brugada Syndrome 1 41
841 P VRT013 Vertigo, Benign Recurrent 39
842 c BRG007 Brugada Syndrome 5 32
843 ATS009 Autosomal Genetic Disease 30
844 c GLL037 Guillain-Barre Syndrome, Familial 30
845 c ERY065 Erythrocytosis, Familial, 7 26
846 c BRG006 Brugada Syndrome 2 26
847 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 25
848 c ART134 Aortic Aneurysm, Familial Thoracic 10 22
849 c BRG003 Brugada Syndrome 3 21
850 c BRG012 Brugada Syndrome 9 21
851 PPL052 Papillomatosis, Confluent and Reticulated 21
852 P XLN230 X-Linked Monogenic Disease 20
853 c BRG009 Brugada Syndrome 7 20
854 c BRG004 Brugada Syndrome 4 19
855 c BRG010 Brugada Syndrome 8 18
856 c EPL220 Epilepsy, Familial Focal, with Variable Foci 4 18
857 c BRG008 Brugada Syndrome 6 17
858 c GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 16
859 c HYP563 Hyperpigmentation, Familial Progressive, 1 15
860 c VRT008 Vertigo, Benign Recurrent, 2 7
861 c YLN002 Y-Linked Monogenic Disease 3
862 c HYP595 Hypertension, Essential 77
863 P RTN024 Retinoblastoma 73
864 c THR092 Thrombophilia Due to Thrombin Defect 70
865 P DYS154 Dystonia 66
866 OVR029 Ovarian Hyperstimulation Syndrome 65
867 c THR082 Thrombophilia Due to Activated Protein C Resistance 60
868 P HYP083 Hypopituitarism 59
869 P LCH002 Lichen Planus 59
870 P SHR029 Short Syndrome 57
871 P THR015 Thrombophilia 56
872 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
873 P ACT008 Actinic Keratosis 55
874 P LFT003 Left Ventricular Noncompaction 55
875 P OBS001 Obstructive Jaundice 54
876 P DPY001 Dupuytren Contracture 53
877 TTH002 Tooth Agenesis 53
878 HYP732 Hyperalphalipoproteinemia 1 51
879 P BND018 Band Heterotopia 51
880 MCL027 Macular Dystrophy, Dominant Cystoid 51
881 P RNL017 Renal Oncocytoma 51
882 HMZ003 Homozygous Familial Hypercholesterolemia 49
883 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
884 BNG009 Benign Epilepsy with Centrotemporal Spikes 48
885 P KRT005 Keratoacanthoma 48
886 P CLS010 Cluster Headache 46
887 P HRD086 Hereditary Hypophosphatemic Rickets 45
888 c SHR030 Short Qt Syndrome 44
889 c ANT077 Anterior Segment Dysgenesis 1 43
890 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 43
891 P HMF004 Hemifacial Spasm 43
892 BRR012 Berardinelli-Seip Congenital Lipodystrophy 43
893 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 42
894 P FML187 Familial Hypertension 42
895 P HYP120 Hypoaldosteronism 40
896 P ORF002 Orofacial Cleft 40
897 NND010 Nondisjunction 40
898 c CHL140 Chilblain Lupus 1 40
899 c ANT086 Anterior Segment Dysgenesis 2 38
900 PDT014 Pediatric Ependymoma 38
901 c DYS119 Dystonia 9 38
902 c MNS014 Monosomy 22 38
903 SPN354 Spinal Arachnoiditis 38
904 c ANT071 Anterior Segment Dysgenesis 4 37
905 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 36
906 c SPR083 Sporadic Hemiplegic Migraine 36
907 c CLR085 Colorectal Cancer 1 36
908 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 35
909 c ALZ063 Alzheimer's Disease 1 34
910 c FML008 Familial Retinoblastoma 34
911 P GLM006 Glomangioma 34
912 c FML294 Familial Short Qt Syndrome 33
913 c HRD198 Hereditary Dystonia 32
914 c FML311 Familial Colorectal Cancer Type X 31
915 c ART068 Aortic Aneurysm, Familial Thoracic 2 31
916 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 31
917 c CLR077 Colorectal Cancer 10 30
918 P ACT232 Acute Necrotizing Encephalopathy 30
919 c LFT021 Left Ventricular Noncompaction 1 30
920 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 30
921 P CRY006 Cryofibrinogenemia 30
922 c DYS059 Dystonia 16 28
923 FML292 Familial Drusen 28
924 IDP085 Idiopathic Infantile Hypercalcemia 28
925 c MLG039 Malignant Essential Hypertension 28
926 c DYS146 Dystonia 24 28
927 c ANT084 Anterior Segment Dysgenesis 3 28
928 c FML306 Familial or Sporadic Hemiplegic Migraine 27
929 c DYS162 Dystonia, Juvenile-Onset 27
930 c ORF048 Orofacial Cleft 1 27
931 c CLR080 Colorectal Cancer 5 26
932 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
933 c DYS145 Dystonia 23 25
934 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 25
935 c BNG021 Benign Essential Hypertension 25
936 c ANT083 Anterior Segment Dysgenesis 7 25
937 c ANT085 Anterior Segment Dysgenesis 5 25
938 c HYP311 Hyperparathyroidism 3 25
939 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 24
940 c CLR079 Colorectal Cancer 2 24
941 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 24
942 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 24
943 c ORF027 Orofacial Cleft 11 24
944 PTR030 Pterygium of Conjunctiva and Cornea 23
945 c FML223 Familial Keratoacanthoma 23
946 P FML305 Familial Abdominal Aortic Aneurysm 23
947 c MLG080 Malignant Secondary Hypertension 23
948 c CLR087 Colorectal Cancer 12 23
949 c PRK091 Parkinson Disease 4, Autosomal Dominant 23
950 DRM041 Dermoid Cysts, Familial Frontonasal 22
951 c ORF028 Orofacial Cleft 10 22
952 c SHR032 Short Qt Syndrome 2 22
953 c CLR075 Colorectal Cancer 3 22
954 c DYS151 Dystonia 25 22
955 P MNS011 Monosomy 9q22.3 22
956 c SHR031 Short Qt Syndrome 1 22
957 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 22
958 c DYS172 Dystonia 27 22
959 c HMF011 Hemifacial Spasm, Familial 21
960 P FML337 Familial Chilblain Lupus 21
961 c MNS008 Monosomy 21 21
962 c ATR026 Atrial Fibrillation, Familial, 1 21
963 c DYS138 Dystonia 21 21
964 c SCN048 Secondary Syringomyelia 21
965 P CNG070 Congenital Dislocation of the Patella 21
966 LRY046 Laryngeal Web, Familial 21
967 c ERY067 Erythrocytosis, Familial, 8 21
968 c GNS004 Geniospasm 1 21
969 c CLR081 Colorectal Cancer 6 21
970 c ALZ058 Alzheimer Disease 11 21
971 c LFT017 Left Ventricular Noncompaction 8 20
972 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
973 c SHR033 Short Qt Syndrome 3 20
974 c ORF049 Orofacial Cleft 3 19
975 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
976 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 19
977 CRT064 Corticosterone Methyloxidase Deficiency 19
978 c ORF047 Orofacial Cleft 15 19
979 c HYP376 Hypouricemia, Renal, 2 18
980 c LFT018 Left Ventricular Noncompaction 10 18
981 c ORF050 Orofacial Cleft 2 18
982 c ANT087 Anterior Segment Dysgenesis 6 18
983 c ANT067 Anterior Segment Dysgenesis 8 18
984 c PRT045 Prothrombin-Related Thrombophilia 18
985 c CHL114 Chilblain Lupus 2 18
986 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
987 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 17
988 c ANR027 Aneurysm, Intracranial Berry, 1 17
989 ZNC006 Zinc, Elevated Plasma 17
990 c ORF031 Orofacial Cleft 14 17
991 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 17
992 c FML028 Familial Renal Oncocytoma 17
993 c MGR033 Migraine with or Without Aura 6 17
994 c THR023 Thrombophilia Due to Thrombomodulin Defect 16
995 c ORF014 Orofacial Cleft 5 16
996 c LFT020 Left Ventricular Noncompaction 7 16
997 c ORF020 Orofacial Cleft 12 16
998 PRP095 Priapism, Familial Idiopathic 15
999 c ORF025 Orofacial Cleft 6 15
1000 c ORF023 Orofacial Cleft 4 15
1001 c CLS053 Cluster Headache, Familial 15
1002 c ACT229 Acute Necrotizing Encephalopathy Type 1 15
1003 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
1004 c ATR027 Atrial Fibrillation, Familial, 5 15
1005 c ORF029 Orofacial Cleft 13 15
1006 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1007 c CLR083 Colorectal Cancer 8 14
1008 c ORF016 Orofacial Cleft 8 14
1009 c CLR082 Colorectal Cancer 7 14
1010 c FML258 Familial Acute Necrotizing Encephalopathy 14
1011 c ATR025 Atrial Fibrillation, Familial, 2 14
1012 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 13
1013 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 13
1014 c LFT011 Left Ventricular Noncompaction 2 13
1015 c ORF024 Orofacial Cleft 9 13
1016 c FML275 Familial Hypoaldosteronism 13
1017 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
1018 c ATR028 Atrial Fibrillation, Familial, 8 13
1019 P HRD194 Hereditary Geniospasm 13
1020 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 13
1021 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 12
1022 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 12
1023 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 12
1024 c CLR078 Colorectal Cancer 11 12
1025 c CLR084 Colorectal Cancer 9 12
1026 FML202 Familial Alzheimer-Like Prion Disease 12
1027 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 11
1028 c LCH017 Lichen Planus, Familial 11
1029 c KRT070 Keratosis, Familial Actinic 11
1030 c HYP452 Hypertension, Essential 6 11
1031 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
1032 c PRM168 Primary Syringomyelia 11
1033 c CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 11
1034 P CHR636 Chorea, Benign Familial 11
1035 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 11
1036 FML079 Familial Nasal Acilia 11
1037 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
1038 c HYP450 Hypertension, Essential 4 11
1039 c HYP449 Hypertension, Essential 3 11
1040 c KMT002 Kmt2b-Related Dystonia 10
1041 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
1042 c FML255 Familial Syringomyelia 10
1043 CHR631 Choreoathetosis, Familial Inverted 10
1044 c HYP451 Hypertension, Essential 5 10
1045 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 10
1046 OPH016 Ophthalmoplegia, Familial Static 10
1047 EDM003 Edema, Familial Idiopathic, Prepubertal 10
1048 c HYP448 Hypertension, Essential 2 10
1049 c HYP447 Hypertension, Essential 1 10
1050 c HYP454 Hypertension, Essential 8 10
1051 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 10
1052 c HYP453 Hypertension, Essential 7 10
1053 CRD227 Cardiac Lipidosis, Familial 10
1054 FML336 Familial Patent Arterial Duct 10
1055 c PTL011 Patella, Familial Recurrent Dislocation of 10
1056 c CRY033 Cryofibrinogenemia, Familial Primary 9
1057 c FML025 Familial Glomangioma 9
1058 c MRL006 Meralgia Paraesthetica, Familial 9
1059 HST021 Histiocytosis, Familial Lipochrome 9
1060 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1061 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
1062 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 9
1063 CNC019 Cancer, Familial, with in Vitro Radioresistance 9
1064 ALP096 Alopecia, Familial Focal 9
1065 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1066 c JND003 Jaundice, Familial Obstructive, of Infancy 9
1067 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
1068 LGL002 Leg Ulcers, Familial, of Juvenile Onset 9
1069 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
1070 LMB070 Lumbar Stenosis, Familial 8
1071 c FML072 Familial Hypopituitarism 8
1072 MSC143 Muscle Cramps, Familial 8
1073 STT047 Setting-Sun Phenomenon, Familial Benign 8
1074 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 8
1075 c MYC090 Myoclonus, Familial, 2 8
1076 NSL026 Nasal Hyperpigmentation, Familial Transverse 8
1077 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
1078 MCR339 Macrocytosis, Familial 7
1079 STR098 Striae Distensae, Familial 7
1080 NSL025 Nasal Groove, Familial Transverse 7
1081 c BNG034 Benign Secondary Hypertension 7
1082 AZT005 Azotemia, Familial 7
1083 BND019 Bundle Branch Block, Familial Isolated Complete Right 7
1084 CRM011 Cramps, Familial Adolescent 7
1085 MLN068 Melanoma, Malignant Familial Intraocular 7
1086 URT053 Urticaria, Familial Localized Heat 7
1087 FVR001 Fever, Familial Lifelong Persistent 7
1088 BRD052 Broad Terminal Phalanges, Familial 7
1089 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 7
1090 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1091 CRY034 Cryptotia, Familial 6
1092 INS028 Insulin Receptors, Familial Increase in 6
1093 PCH021 Pachydermodactyly, Familial 6
1094 c RRL001 Rare Lichen Planus 6
1095 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 6
1096 PNC125 Pancreatic Lymphoma, Familial 6
1097 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 6
1098 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1099 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 5
1100 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 5
1101 OST166 Osteoma of Cranial Vault, Familial 5
1102 BLN022 Blue Nevi, Familial Multiple 5
1103 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1104 c FML049 Familial Band Heterotopia 4
1105 FML216 Familial Isolated Clinodactyly of Fingers 4
1106 c FML317 Familial Monosomy 7 Syndrome 4
1107 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
1108 BRC118 Brachial Palsy, Familial Congenital 4
1109 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
1110 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 4
1111 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
1112 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
1113 FML349 Familial Creutzfeld-Jakob Disease 3
1114 c FML226 Familial Dupuytren Contracture 3
1115 P ADL097 Adult-Onset Familial Chylomicronemia Syndrome 3
1116 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 2
1117 FML074 Familial Interstitial Fibrosis 2
1118 P PRS040 Prostate Cancer 93
1119 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 92
1120 MYL069 Myeloma, Multiple 85
1121 ESP021 Esophageal Cancer 84
1122 P ATX030 Ataxia-Telangiectasia 83
1123 CYS001 Cystic Fibrosis 83
1124 c LKM061 Leukemia, Acute Myeloid 83
1125 SQM013 Squamous Cell Carcinoma, Head and Neck 82
1126 P FNC027 Fanconi Anemia, Complementation Group a 81
1127 NRL016 Neural Tube Defects 79
1128 P RTN008 Retinitis Pigmentosa 79
1129 PFF001 Pfeiffer Syndrome 79
1130 P NNN008 Noonan Syndrome 1 79
1131 P PLM037 Pulmonary Hypertension 77
1132 KPS004 Kaposi Sarcoma 77
1133 PLY001 Polycythemia Vera 76
1134 P SRC025 Sarcoidosis 1 76
1135 NRF026 Neurofibromatosis, Type Iv, of Riccardi 76
1136 P HRT032 Heart Disease 76
1137 P NRF023 Neurofibromatosis, Type Ii 76
1138 MRF001 Marfan Syndrome 76
1139 P MLT020 Multiple Sclerosis 76
1140 P INF038 Influenza 75
1141 APL001 Aplastic Anemia 75
1142 PHN003 Phenylketonuria 75
1143 P HPT021 Hepatitis 74
1144 c HMC039 Hemochromatosis, Type 1 74
1145 P CRN018 Coronary Artery Anomaly 74
1146 c LKM063 Leukemia, Chronic Myeloid 74
1147 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
1148 P NRB001 Neuroblastoma 73
1149 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 73
1150 c HPT073 Hepatitis C Virus 73
1151 ADR007 Adrenoleukodystrophy 72
1152 P TRN020 Turner Syndrome 72
1153 VNH007 Von Hippel-Lindau Syndrome 72
1154 KWS002 Kawasaki Disease 72
1155 P LYN001 Lynch Syndrome 72
1156 P AGM001 Agammaglobulinemia 72
1157 FBR012 Fabry Disease 72
1158 P ALG028 Alagille Syndrome 1 71
1159 P SPR120 Supranuclear Palsy, Progressive, 1 71
1160 c ATM006 Autoimmune Lymphoproliferative Syndrome 71
1161 P DMN001 Diamond-Blackfan Anemia 71
1162 MYL009 Myelodysplastic Syndrome 71
1163 c HPT016 Hepatitis B 70
1164 MYL005 Myelofibrosis 70
1165 P LKM062 Leukemia, Acute Lymphoblastic 70
1166 P FRG001 Fragile X Syndrome 70
1167 P CHR012 Chronic Granulomatous Disease 70
1168 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70
1169 P TYS001 Tay-Sachs Disease 70
1170 P JBR020 Joubert Syndrome 1 69
1171 BRK010 Burkitt Lymphoma 69
1172 c PRM196 Premature Ovarian Failure 1 69
1173 P TBR001 Tuberous Sclerosis 69
1174 c HPT001 Hepatitis C 69
1175 P CWD010 Cowden Syndrome 69
1176 P ORT004 Orthostatic Intolerance 69
1177 c HRD010 Hereditary Spastic Paraplegia 69
1178 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
1179 SMT004 Smith-Lemli-Opitz Syndrome 69
1180 P PSD087 Pseudoxanthoma Elasticum 68
1181 P ATS364 Autism 68
1182 P MYL006 Myeloid Leukemia 68
1183 c ATS007 Autism Spectrum Disorder 68
1184 P DYS007 Dyskeratosis Congenita 67
1185 c DNG003 Dengue Disease 67
1186 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1187 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1188 LWC002 Lowe Oculocerebrorenal Syndrome 67
1189 P PSR002 Psoriasis 67
1190 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 67
1191 P DBT009 Diabetes Mellitus 67
1192 P ASP006 Aspergillosis 67
1193 P KBK002 Kabuki Syndrome 1 67
1194 c GLY008 Glycogen Storage Disease Ii 67
1195 c MCP050 Mucopolysaccharidosis, Type Ii 67
1196 INC021 Incontinentia Pigmenti 67
1197 c HPT003 Hepatitis a 66
1198 c TBR026 Tuberous Sclerosis 2 66
1199 c DPH024 Diaphragmatic Hernia, Congenital 66
1200 P HYD006 Hydrocephalus 66
1201 P GCH001 Gaucher's Disease 66
1202 P KRB001 Krabbe Disease 66
1203 P CCK001 Cockayne Syndrome 66
1204 c ATM011 Autoimmune Hepatitis 66
1205 c NNN010 Noonan Syndrome 3 66
1206 P LNG028 Long Qt Syndrome 65
1207 MCC012 Mccune-Albright Syndrome 65
1208 P HML033 Hemolytic Uremic Syndrome, Atypical 1 65
1209 P ENC018 Encephalopathy 65
1210 CST001 Costello Syndrome 65
1211 CRB011 Cerebrotendinous Xanthomatosis 65
1212 c CNG411 Congenital Disorder of Glycosylation, Type in 65
1213 P THR005 Thrombotic Thrombocytopenic Purpura 65
1214 P THL005 Thalassemia 65
1215 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65
1216 c MCP049 Mucopolysaccharidosis, Type Vii 65
1217 c GCH015 Gaucher Disease, Type I 65
1218 NRR002 Norrie Disease 65
1219 P CRB048 Cerebral Cavernous Malformations 65
1220 P BRD002 Bardet-Biedl Syndrome 65
1221 P CRD224 Cardiofaciocutaneous Syndrome 1 65
1222 STH001 Saethre-Chotzen Syndrome 64
1223 TBC004 Tobacco Addiction 64
1224 P LBR001 Leber Congenital Amaurosis 64
1225 WLL001 Williams-Beuren Syndrome 64
1226 P GLL020 Gallbladder Disease 64
1227 P SHW006 Shwachman-Diamond Syndrome 1 64
1228 P MSC007 Muscle Hypertrophy 64
1229 P DNG005 Dengue Virus 64
1230 TNG002 Tangier Disease 64
1231 P CRD132 Cardiac Conduction Defect 64
1232 P CRN015 Cornelia De Lange Syndrome 64
1233 P HRM001 Hermansky-Pudlak Syndrome 64
1234 c MCP001 Mucopolysaccharidosis Iii 63
1235 P LYM033 Lymphoproliferative Syndrome 63
1236 P ACR001 Aicardi-Goutieres Syndrome 63
1237 P LPR021 Leprosy 3 63
1238 P PLY014 Polycystic Kidney Disease 63
1239 c ATS013 Autosomal Recessive Congenital Ichthyosis 63
1240 P VNW001 Von Willebrand's Disease 63
1241 LSC001 Lesch-Nyhan Syndrome 63
1242 P MCK013 Meckel Syndrome, Type 1 63
1243 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 63
1244 P OST001 Osteopetrosis 63
1245 RFS006 Refsum Disease, Classic 63
1246 P HYP055 Hypoplastic Left Heart Syndrome 62
1247 c GLY060 Glycogen Storage Disease Ia 62
1248 DRR014 Darier-White Disease 62
1249 P CTS001 Cutis Laxa 62
1250 P CRN300 Coronary Heart Disease 1 62
1251 P PTN014 Patent Ductus Arteriosus 1 62
1252 P EHL001 Ehlers-Danlos Syndrome 62
1253 P AXN002 Axenfeld-Rieger Syndrome 62
1254 c GLY003 Glycogen Storage Disease Iii 62
1255 ALP103 Alpha-1-Antitrypsin Deficiency 62
1256 P NRN021 Neuronal Ceroid Lipofuscinosis 62
1257 P EPL140 Epilepsy, Idiopathic Generalized 62
1258 P GLY013 Glycogen Storage Disease 62
1259 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1260 KLP010 Klippel-Trenaunay-Weber Syndrome 61
1261 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 61
1262 P MTR004 Maturity-Onset Diabetes of the Young 61
1263 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 61
1264 P VNT002 Ventricular Septal Defect 61
1265 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
1266 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 61
1267 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1268 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 60
1269 LYS012 Lysosomal Acid Lipase Deficiency 60
1270 P WLF004 Wolfram Syndrome 60
1271 c VRL010 Viral Hepatitis 60
1272 P FCL005 Focal Segmental Glomerulosclerosis 60
1273 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
1274 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
1275 ARG002 Argininosuccinic Aciduria 60
1276 c MCP004 Mucopolysaccharidosis Iv 60
1277 c SPN294 Spinocerebellar Ataxia 1 60
1278 c ALM001 Al Amyloidosis 60
1279 P SPN301 Spinocerebellar Ataxia 2 60
1280 CFF002 Coffin-Lowry Syndrome 60
1281 HYP810 Hypereosinophilic Syndrome, Idiopathic 60
1282 NTH001 Netherton Syndrome 60
1283 P OCL013 Oculodentodigital Dysplasia 59
1284 P MCR010 Microcephaly 59
1285 P DST002 Distal Arthrogryposis 59
1286 c PRT132 Protoporphyria, Erythropoietic, 1 59
1287 c PRX045 Peroxisome Biogenesis Disorder 1b 59
1288 P CHL002 Childhood Absence Epilepsy 59
1289 P NRC002 Narcolepsy 59
1290 c NMN016 Niemann-Pick Disease, Type B 59
1291 c CRP023 Carpenter Syndrome 1 59
1292 c ESS001 Essential Tremor 59
1293 P USH001 Usher Syndrome 59
1294 P NPH012 Nephrotic Syndrome 59
1295 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 59
1296 c GCH016 Gaucher Disease, Type Ii 59
1297 STR039 Sturge-Weber Syndrome 58
1298 P OCL002 Oculocutaneous Albinism 58
1299 P PRG013 Paraganglioma 58
1300 GRN051 Granulomatous Disease, Chronic, X-Linked 58
1301 P STR022 Stargardt Disease 58
1302 c MNN047 Mannosidosis, Alpha B, Lysosomal 58
1303 PRP082 Porphyria, Congenital Erythropoietic 58
1304 P CTR002 Cataract 58
1305 ANN002 Anencephaly 58
1306 P DRR001 Diarrhea 58
1307 P HRD011 Hereditary Spherocytosis 58
1308 P ANG015 Angioedema 58
1309 P MLT007 Multiple Epiphyseal Dysplasia 58
1310 STS003 Sitosterolemia 58
1311 EXF001 Exfoliation Syndrome 58
1312 c HRD002 Hereditary Angioedema 57
1313 P ICH004 Ichthyosis 57
1314 LCR014 Lacrimoauriculodentodigital Syndrome 57
1315 PRP032 Porphyria Variegata 57
1316 P WRD001 Waardenburg's Syndrome 57
1317 P GRS003 Griscelli Syndrome 57
1318 c ANG068 Angioedema, Hereditary, Type I 57
1319 c GLY005 Glycogen Storage Disease Vi 57
1320 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 57
1321 CPR004 Coproporphyria, Hereditary 57
1322 P CFF008 Coffin-Siris Syndrome 1 57
1323 P HYP097 Hyperekplexia 57
1324 PRT082 Preterm Premature Rupture of the Membranes 57
1325 FCT003 Factor X Deficiency 56
1326 c CRN139 Cornelia De Lange Syndrome 1 56
1327 P STC001 Stickler Syndrome 56
1328 c CNG216 Congenital Hydrocephalus 56
1329 P ATR010 Atrial Heart Septal Defect 56
1330 CHN055 Chanarin-Dorfman Syndrome 56
1331 FCT001 Factor Viii Deficiency 56
1332 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 56
1333 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 56
1334 P PRM011 Primary Ciliary Dyskinesia 56
1335 P ATR001 Atrioventricular Septal Defect 56
1336 ASP002 Aspartylglucosaminuria 56
1337 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 56
1338 P TRM003 Tremor 56
1339 ART002 Arts Syndrome 56
1340 P HLL001 Hallermann-Streiff Syndrome 56
1341 c HPT007 Hepatitis E 56
1342 P CRN108 Cranioectodermal Dysplasia 1 56
1343 P AGG001 Aggressive Periodontitis 56
1344 MTC097 Mitochondrial Complex Iv Deficiency 55
1345 HRL003 Hurler Syndrome 55
1346 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 55
1347 c ANM036 Anemia, Sideroblastic, 1 55
1348 P CPL006 Capillary Hemangioma 55
1349 c NNN012 Noonan Syndrome 5 55
1350 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 55
1351 P SNR003 Senior-Loken Syndrome 1 55
1352 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 55
1353 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 55
1354 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1355 OST024 Osteoporosis-Pseudoglioma Syndrome 55
1356 c GLY004 Glycogen Storage Disease V 55
1357 c LBR014 Leber Congenital Amaurosis 4 55
1358 GNR004 Generalized Anxiety Disorder 55
1359 c GCH017 Gaucher Disease, Type Iii 55
1360 c BRC051 Brachydactyly, Type B1 55
1361 P SCK004 Seckel Syndrome 54
1362 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
1363 c FNC042 Fanconi Anemia, Complementation Group D2 54
1364 P NLD001 Nail Disease 54
1365 P TWN003 Townes-Brocks Syndrome 54
1366 c PSR017 Psoriasis 2 54
1367 c WLF013 Wolfram Syndrome 1 54
1368 P FNC043 Fanconi Anemia, Complementation Group E 54
1369 MLT135 Multiple Sulfatase Deficiency 54
1370 P CNG010 Congenital Stationary Night Blindness 54
1371 ABL002 Ablepharon-Macrostomia Syndrome 54
1372 P HYP726 Hypercalcemia, Infantile, 1 53
1373 c SPN291 Spinocerebellar Ataxia 7 53
1374 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1375 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
1376 P CNT004 Centronuclear Myopathy 53
1377 P THY054 Thyrotoxic Periodic Paralysis 53
1378 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 53
1379 c SCN036 Secondary Progressive Multiple Sclerosis 53
1380 c WRD033 Waardenburg Syndrome, Type 2e 53
1381 RGH009 Right Atrial Isomerism 53
1382 c PRD039 Periodontitis, Aggressive, 1 53
1383 c GLY007 Glycogen Storage Disease Iv 52
1384 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1385 P MYM013 Moyamoya Disease 1 52
1386 c LKM060 Leukemia, Acute Lymphoblastic 3 52
1387 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 52
1388 GLC012 Galactosialidosis 52
1389 P PRC019 Precocious Puberty 52
1390 RNP003 Renpenning Syndrome 1 52
1391 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1392 P FNC044 Fanconi Anemia, Complementation Group C 52
1393 c CLR131 Ciliary Dyskinesia, Primary, 1 52
1394 CCH002 Coach Syndrome 52
1395 c CNT075 Central Precocious Puberty 52
1396 BRT005 Barth Syndrome 52
1397 c HPT015 Hepatitis D 52
1398 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
1399 c PRM108 Primary Progressive Multiple Sclerosis 52
1400 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
1401 P 46X052 46,xx Sex Reversal 1 52
1402 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 52
1403 c INV001 Invasive Aspergillosis 52
1404 c GLY011 Glycogen Storage Disease Vii 52
1405 c VNW008 Von Willebrand Disease, Type 3 52
1406 P BRS053 Breast Fibroadenoma 51
1407 P VSC013 Visceral Heterotaxy 51
1408 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 51
1409 c NNN009 Noonan Syndrome 2 51
1410 P APL006 Aplasia Cutis Congenita 51
1411 P ALT001 Alternating Hemiplegia of Childhood 51
1412 c NRC009 Narcolepsy 1 51
1413 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 51
1414 c OST163 Osteopetrosis, Autosomal Recessive 3 51
1415 c PRX059 Peroxisome Biogenesis Disorder 1a 51
1416 c CCK008 Cockayne Syndrome a 51
1417 P EPL116 Epileptic Encephalopathy, Childhood-Onset 51
1418 PLY112 Polyarteritis Nodosa, Childhood-Onset 51
1419 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 51
1420 c HYP740 Hyperlipoproteinemia, Type V 51
1421 CTY001 Cat Eye Syndrome 51
1422 P VNB005 Van Buchem Disease 51
1423 c CCK007 Cockayne Syndrome B 51
1424 P LPR002 Leopard Syndrome 50
1425 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
1426 P CRN013 Craniodiaphyseal Dysplasia 50
1427 P WLL002 Weill-Marchesani Syndrome 50
1428 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 50
1429 P SMP003 Simpson-Golabi-Behmel Syndrome 50
1430 P NMN002 Niemann-Pick Disease 50
1431 P KRT007 Keratoconus 50
1432 c ACH041 Achondrogenesis, Type Ii 50
1433 P BRC006 Brachydactyly 50
1434 c FRS014 Fraser Syndrome 1 50
1435 c SPN314 Spinocerebellar Ataxia 10 50
1436 c DWL002 Dowling-Degos Disease 1 50
1437 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
1438 P GNG025 Gingival Fibromatosis 50
1439 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
1440 P NLX004 Neu-Laxova Syndrome 1 50
1441 DNN001 Danon Disease 50
1442 P HYP087 Hypotrichosis 50
1443 ORT008 Orotic Aciduria 49
1444 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
1445 DRR008 Diarrhea 1, Secretory Chloride, Congenital 49
1446 c SPN293 Spinocerebellar Ataxia 12 49
1447 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
1448 ENH001 Enhanced S-Cone Syndrome 49
1449 ALL001 Allan-Herndon-Dudley Syndrome 49
1450 c GRS014 Griscelli Syndrome, Type 2 49
1451 P PRX021 Proximal Symphalangism 49
1452 P LSS002 Lissencephaly 49
1453 c BRC109 Brachydactyly, Type E1 49
1454 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1455 c GM2006 Gm2 Gangliosidosis 49
1456 RVS001 Revesz Syndrome 49
1457 c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 49
1458 P TYR004 Tyrosinemia 49
1459 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 49
1460 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 49
1461 P MYT023 Myotonia Congenita 49
1462 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
1463 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 49
1464 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 49
1465 P ERL057 Early Infantile Epileptic Encephalopathy 49
1466 FRB001 Farber Lipogranulomatosis 49
1467 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
1468 HYP741 Hyperparathyroidism 2 with Jaw Tumors 49
1469 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
1470 JHN001 Johanson-Blizzard Syndrome 48
1471 c ACR116 Aicardi-Goutieres Syndrome 1 48
1472 ACR058 Acrofacial Dysostosis 1, Nager Type 48
1473 P ANL018 Analbuminemia 48
1474 c HNT004 Huntington Disease-Like 2 48
1475 P NML001 Nemaline Myopathy 48
1476 P EPS003 Episodic Ataxia 48
1477 P PRK001 Porokeratosis 48
1478 P NNT009 Neonatal Diabetes Mellitus 48
1479 c NML002 Nemaline Myopathy 1 48
1480 c OPT051 Opitz Gbbb Syndrome, Type I 48
1481 P ANT088 Anterior Segment Dysgenesis 48
1482 c AXN009 Axenfeld-Rieger Syndrome, Type 1 48
1483 TRN022 Transcobalamin Ii Deficiency 48
1484 c ALB019 Albinism, Oculocutaneous, Type Iv 47
1485 P MTH007 Methemoglobinemia 47
1486 c SPN296 Spinocerebellar Ataxia 17 47
1487 P MNN019 Mannosidosis, Beta a, Lysosomal 47
1488 P MYF003 Myofibrillar Myopathy 47
1489 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 47
1490 HRT031 Hartnup Disorder 47
1491 c NPH055 Nephrotic Syndrome, Type 1 47
1492 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 47
1493 c AXN010 Axenfeld-Rieger Syndrome, Type 3 47
1494 c SPL067 Split-Hand/foot Malformation 1 47
1495 c ATS282 Autosomal Recessive Malignant Osteopetrosis 47
1496 ATS010 Autosomal Recessive Disease 47
1497 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 47
1498 c WRD020 Waardenburg Syndrome, Type 4a 47
1499 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
1500 NRL018 Neural Tube Defects, Folate-Sensitive 47
1501 MCR165 Microphthalmia with Limb Anomalies 47
1502 P FNG006 Feingold Syndrome 1 47
1503 c USH035 Usher Syndrome Type 2 47
1504 c BRD044 Bardet-Biedl Syndrome 17 47
1505 P GNG009 Gangliosidosis 47
1506 LPP002 Lipoprotein Glomerulopathy 47
1507 P RBN002 Robinow Syndrome 46
1508 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 46
1509 c HMC009 Hemochromatosis Type 2 46
1510 KBG001 Kbg Syndrome 46
1511 P KLP003 Klippel-Feil Syndrome 46
1512 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
1513 P MLT072 Multiple Synostoses Syndrome 46
1514 c USH021 Usher Syndrome, Type Iid 46
1515 MNC019 Monocarboxylate Transporter 1 Deficiency 46
1516 c NML003 Nemaline Myopathy 2 46
1517 P MCL001 Mucolipidosis 46
1518 c LKD015 Leukodystrophy, Hypomyelinating, 3 46
1519 c RTN172 Retinitis Pigmentosa 1 46
1520 c RTN177 Retinitis Pigmentosa 73 46
1521 c MYP072 Myopathy, Myofibrillar, 1 46
1522 SND002 Sneddon Syndrome 46
1523 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1524 c ALB015 Albinism, Oculocutaneous, Type V 46
1525 P KLF001 Kleefstra Syndrome 46
1526 P MSC022 Mosaic Variegated Aneuploidy Syndrome 46
1527 RST011 Restrictive Dermopathy, Lethal 45
1528 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 45
1529 c SCK009 Seckel Syndrome 1 45
1530 P CND005 Cone Dystrophy 45
1531 c WRD019 Waardenburg Syndrome, Type 4b 45
1532 P AML002 Amelogenesis Imperfecta 45
1533 c ACH033 Achondrogenesis, Type Ia 45
1534 MRG013 Mirage Syndrome 45
1535 c WRD031 Waardenburg Syndrome, Type 3 45
1536 P GLL032 Galloway-Mowat Syndrome 45
1537 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 45
1538 MLB001 Mulibrey Nanism 45
1539 P DWL001 Dowling-Degos Disease 45
1540 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 45
1541 c BRD032 Bardet-Biedl Syndrome 14 45
1542 RBF001 Riboflavin Deficiency 45
1543 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
1544 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
1545 c ACQ017 Acquired Von Willebrand Syndrome 45
1546 c LTH008 Lethal Congenital Contracture Syndrome 2 45
1547 P TRM004 Trimethylaminuria 45
1548 P CHN044 Chondrodysplasia Punctata Syndrome 45
1549 c ATS082 Autosomal Dominant Robinow Syndrome 45
1550 P WHT013 White Sponge Nevus 1 45
1551 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 45
1552 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
1553 P ATS366 Autism X-Linked 2 45
1554 P PRV002 Periventricular Nodular Heterotopia 45
1555 MWT001 Mowat-Wilson Syndrome 44
1556 c ATR066 Atrial Septal Defect 2 44
1557 MHR001 Mohr-Tranebjaerg Syndrome 44
1558 c FNC045 Fanconi Anemia, Complementation Group F 44
1559 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 44
1560 c BRC060 Brachydactyly, Type E2 44
1561 c TRN032 Transient Neonatal Diabetes Mellitus 44
1562 c ACQ012 Acquired Angioedema 44
1563 c NNN013 Noonan Syndrome 6 44
1564 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 44
1565 c FNC032 Fanconi Anemia, Complementation Group B 44
1566 c HYP543 Hypoplastic Left Heart Syndrome 1 44
1567 c MCL066 Macular Dystrophy, Vitelliform, 2 44
1568 RST023 Resting Heart Rate, Variation in 44
1569 c OPT050 Opitz Gbbb Syndrome, Type Ii 44
1570 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
1571 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 44
1572 c RTN142 Retinitis Pigmentosa 38 44
1573 P JVN024 Juvenile Hereditary Hemochromatosis 44
1574 c TYR011 Tyrosinemia, Type Iii 44
1575 P PRM001 Primary Cutaneous Amyloidosis 44
1576 ATS008 Autosomal Dominant Disease 43
1577 c PSR028 Psoriasis 7 43
1578 c PSR032 Psoriasis 11 43
1579 c SPN103 Spinocerebellar Ataxia 31 43
1580 c BRD020 Bardet-Biedl Syndrome 8 43
1581 c NNN011 Noonan Syndrome 4 43
1582 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1583 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 43
1584 c 3MT014 3-Methylglutaconic Aciduria, Type V 43
1585 PKL001 Poikiloderma with Neutropenia 43
1586 c HYP507 Hypotrichosis 1 43
1587 P SDR003 Sideroblastic Anemia 43
1588 PHS021 Phosphoglycerate Dehydrogenase Deficiency 43
1589 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 43
1590 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 43
1591 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
1592 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
1593 c PRK082 Porokeratosis 1, Multiple Types 43
1594 P PNT019 Pontocerebellar Hypoplasia 43
1595 ATN014 Autoinflammation with Arthritis and Dyskeratosis 43
1596 c FNC058 Fanconi Anemia, Complementation Group R 43
1597 P VTL001 Vitelliform Macular Dystrophy 43
1598 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
1599 ACD008 Acid-Labile Subunit Deficiency 43
1600 c WRB002 Warburg Micro Syndrome 1 43
1601 c SPN265 Spinocerebellar Ataxia 36 43
1602 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 43
1603 c PSR018 Psoriasis 13 42
1604 c RTN160 Retinitis Pigmentosa 60 42
1605 P CNG003 Congenital Dyserythropoietic Anemia 42
1606 P SYN012 Synpolydactyly 42
1607 c MCK012 Meckel Syndrome, Type 6 42
1608 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
1609 P OCY003 Oocyte Maturation Defect 1 42
1610 c SPN305 Spinocerebellar Ataxia 11 42
1611 NNK001 Nonaka Myopathy 42
1612 c BRD033 Bardet-Biedl Syndrome 13 42
1613 P OPT048 Opitz-Gbbb Syndrome 42
1614 c PSR023 Psoriasis 1 42
1615 P DYS005 Dyslexia 42
1616 c FML015 Familial Nephrotic Syndrome 42
1617 ATR013 Atrichia with Papular Lesions 42
1618 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1619 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 42
1620 c AMY069 Amyotrophic Lateral Sclerosis 21 42
1621 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
1622 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 42
1623 GLC084 Glaucoma, Normal Tension 42
1624 c SPH013 Spherocytosis, Type 1 42
1625 c FNC023 Fanconi Anemia, Complementation Group N 42
1626 c BRD048 Bardet-Biedl Syndrome 18 42
1627 P CHR637 Choroidal Dystrophy, Central Areolar, 1 42
1628 c RTS003 Ritscher-Schinzel Syndrome 1 42
1629 SPN331 Spondyloocular Syndrome 42
1630 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
1631 HYL004 Hyaline Fibromatosis Syndrome 42
1632 c FNC057 Fanconi Anemia, Complementation Group U 42
1633 c BRC052 Brachydactyly, Type B2 42
1634 P JVN007 Juvenile Absence Epilepsy 41
1635 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 41
1636 P PST059 Pustular Psoriasis 41
1637 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
1638 c FNC056 Fanconi Anemia, Complementation Group V 41
1639 c PRC031 Preeclampsia/eclampsia 1 41
1640 c MCR263 Microphthalmia, Syndromic 1 41
1641 NNC002 Nance-Horan Syndrome 41
1642 c RTN043 Retinitis Pigmentosa 13 41
1643 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 41
1644 c JBR024 Joubert Syndrome 14 41
1645 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 41
1646 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 41
1647 FRG010 Fragile X Tremor/ataxia Syndrome 41
1648 c SPN283 Spinocerebellar Ataxia 37 41
1649 P DYS023 Dyschromatosis Universalis Hereditaria 41
1650 P ACH011 Achondrogenesis 41
1651 c CTR130 Cataract 9, Multiple Types 41
1652 c ALB016 Albinism, Oculocutaneous, Type Vii 41
1653 c FNC028 Fanconi Anemia, Complementation Group L 41
1654 MYH012 Myhre Syndrome 41
1655 c MCL016 Mucolipidosis Iii Gamma 41
1656 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
1657 c BRC062 Brachydactyly, Type D 41
1658 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
1659 NTR018 Neutrophilia, Hereditary 41
1660 c HMC021 Hemochromatosis, Type 2a 41
1661 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
1662 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 41
1663 c PRM212 Primary Microcephaly 41
1664 c NML004 Nemaline Myopathy 3 41
1665 HYP110 Hyperproinsulinemia 41
1666 GNT031 Genitopatellar Syndrome 41
1667 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 41
1668 c FNC029 Fanconi Anemia, Complementation Group I 41
1669 ATM052 Autoimmune Disease 1 41
1670 ATX038 Ataxia and Polyneuropathy, Adult-Onset 41
1671 ALR002 Al-Raqad Syndrome 41
1672 CHR382 Chromosome 18q Deletion Syndrome 41
1673 P MCR364 Macrodactyly 40
1674 c HYD064 Hydrocephalus, Congenital, 1 40
1675 c GLC083 Glaucoma 3, Primary Infantile, B 40
1676 c SPL034 Split-Hand/foot Malformation 4 40
1677 c GRS013 Griscelli Syndrome, Type 1 40
1678 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1679 c SPN330 Spondylocostal Dysostosis 5 40
1680 SNL007 Senile Cataract 40
1681 c GLY098 Glycogen Storage Disease, Type Ixd 40
1682 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 40
1683 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
1684 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
1685 c GLL038 Galloway-Mowat Syndrome 1 40
1686 P HRD012 Hereditary Elliptocytosis 40
1687 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 40
1688 c RTN143 Retinitis Pigmentosa 47 40
1689 P CHR084 Chromosomal Disease 40
1690 P WLL010 Woolly Hair Syndrome 40
1691 c HNT011 Huntington Disease-Like 3 40
1692 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 40
1693 SCR035 Sacral Agenesis with Vertebral Anomalies 40
1694 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
1695 LYM029 Lymphedema-Distichiasis Syndrome 40
1696 c OTP007 Otopalatodigital Syndrome, Type Ii 40
1697 BRB006 Barber-Say Syndrome 40
1698 c PRS136 Prostate Cancer, Hereditary, 6 40
1699 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
1700 P MCR241 Microphthalmia, Syndromic 3 40
1701 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
1702 c CTR098 Cataract 1, Multiple Types 40
1703 c SCK015 Seckel Syndrome 2 40
1704 c NNN024 Noonan Syndrome 9 40
1705 c NNN021 Noonan Syndrome 8 40
1706 c CRN243 Carney Complex, Type 1 40
1707 HRL004 Hurler-Scheie Syndrome 39
1708 PLY068 Polysubstance Abuse 39
1709 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 39
1710 c SPN304 Spinocerebellar Ataxia 8 39
1711 MYP139 Myopathy, Proximal, and Ophthalmoplegia 39
1712 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 39
1713 c LNG057 Long Qt Syndrome 13 39
1714 c FNC046 Fanconi Anemia, Complementation Group P 39
1715 c FNC025 Fanconi Anemia, Complementation Group J 39
1716 c VNM003 Van Maldergem Syndrome 1 39
1717 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
1718 C1Q001 C1q Deficiency 39
1719 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
1720 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 39
1721 c BRD035 Bardet-Biedl Syndrome 15 39
1722 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 39
1723 c PRM038 Primary Agammaglobulinemia 39
1724 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
1725 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 39
1726 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
1727 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 39
1728 P ANX007 Anauxetic Dysplasia 1 39
1729 c KNB006 Knobloch Syndrome 1 39
1730 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 39
1731 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
1732 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 39
1733 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
1734 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 39
1735 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 39
1736 P SPL061 Split Hand-Foot Malformation 39
1737 HTR014 Heterotaxy, Visceral, 1, X-Linked 39
1738 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 39
1739 c SCP001 Sc Phocomelia Syndrome 39
1740 c PNT010 Pontocerebellar Hypoplasia Type 1 39
1741 c GLY023 Glycogen Storage Disease Type 0 39
1742 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 39
1743 c JBR004 Joubert Syndrome 2 39
1744 CHR667 Chromosome 3pter-P25 Deletion Syndrome 39
1745 c ACT004 Acute Diarrhea 39
1746 c NML005 Nemaline Myopathy 4 38
1747 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
1748 P PRT042 Parietal Foramina 38
1749 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
1750 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 38
1751 c JBR015 Joubert Syndrome 6 38
1752 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38
1753 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 38
1754 NTR007 Neutral Lipid Storage Disease with Myopathy 38
1755 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38
1756 CRN285 Corneal Dystrophy, Fleck 38
1757 DBT007 Diabetic Cataract 38
1758 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
1759 c NPH049 Nephrotic Syndrome, Type 2 38
1760 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 38
1761 P UVS001 Uv-Sensitive Syndrome 38
1762 c OST126 Osteopetrosis, Autosomal Recessive 1 38
1763 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
1764 c CNR003 Cone-Rod Dystrophy 1 38
1765 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
1766 TRS021 Triosephosphate Isomerase Deficiency 38
1767 c CTR115 Cataract 16, Multiple Types 38
1768 DPH019 Diaphanospondylodysostosis 38
1769 P LSS024 Lissencephaly with Cerebellar Hypoplasia 38
1770 c USH039 Usher Syndrome, Type Ic 38
1771 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 38
1772 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
1773 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
1774 c GLY044 Glycogen Storage Disease Ixc 38
1775 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
1776 CMP089 Complement Component 6 Deficiency 38
1777 c WRB005 Warburg Micro Syndrome 4 37
1778 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
1779 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
1780 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 37
1781 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
1782 c PRM032 Primary Congenital Glaucoma 37
1783 P SPS008 Spastic Ataxia 37
1784 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
1785 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 37
1786 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
1787 c LNG096 Long Qt Syndrome 15 37
1788 c SPL070 Split-Hand/foot Malformation 2 37
1789 c CNR023 Cone-Rod Dystrophy 8 37
1790 c MTC010 Mitochondrial Dna Depletion Syndrome 37
1791 c RTN136 Retinitis Pigmentosa 44 37
1792 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
1793 c CNR017 Cone-Rod Dystrophy 9 37
1794 c HMN027 Hemangioma, Capillary Infantile 37
1795 c SPN247 Spinocerebellar Ataxia Type 19/22 37
1796 c ATR031 Atrial Septal Defect 4 37
1797 P CLC057 Cole-Carpenter Syndrome 37
1798 OHD005 Ohdo Syndrome, Sbbys Variant 37
1799 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
1800 c LSS006 Lissencephaly 2 37
1801 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
1802 c ZMM002 Zimmermann-Laband Syndrome 1 37
1803 LGN006 Legionnaire Disease 37
1804 c ATS076 Autosomal Recessive Stickler Syndrome 37
1805 c CNR016 Cone-Rod Dystrophy 7 37
1806 c MCR124 Microphthalmia, Isolated 1 37
1807 c WRD024 Waardenburg Syndrome, Type 4c 37
1808 c AML020 Amelogenesis Imperfecta, Type Iv 37
1809 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 37
1810 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1811 c CTR170 Cataract 30, Multiple Types 37
1812 c PRS130 Prostate Cancer, Hereditary, 8 37
1813 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 37
1814 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 37
1815 c EPP012 Epiphyseal Dysplasia, Multiple, 2 36
1816 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1817 c SPN299 Spinocerebellar Ataxia 20 36
1818 c SPH014 Spherocytosis, Type 2 36
1819 c GLY016 Glycogen Storage Disease Ib 36
1820 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
1821 c NPH070 Nephrotic Syndrome, Type 6 36
1822 c MCK033 Meckel Syndrome, Type 4 36
1823 SLT014 Salt and Pepper Developmental Regression Syndrome 36
1824 HYP550 Hypomagnesemia 1, Intestinal 36
1825 c EPS017 Episodic Ataxia, Type 6 36
1826 FNC030 Fanconi Anemia, Complementation Group G 36
1827 PRM087 Premature Chromatid Separation Trait 36
1828 CHR387 Chromosome Xp21 Deletion Syndrome 36
1829 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 36
1830 c RTN048 Retinitis Pigmentosa 19 36
1831 c HYP581 Hypotrichosis 6 36
1832 P JVN008 Juvenile Glaucoma 36
1833 MND025 Mandibulofacial Dysostosis with Alopecia 36
1834 c SPN094 Spinocerebellar Ataxia 18 36
1835 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1836 GLY032 Glycosylphosphatidylinositol Deficiency 36
1837 c SPH015 Spherocytosis, Type 3 36
1838 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1839 P GLP001 Geleophysic Dysplasia 36
1840 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
1841 c USH041 Usher Syndrome, Type if 36
1842 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
1843 c RTN066 Retinitis Pigmentosa 4 36
1844 c SPL024 Split-Hand/foot Malformation 3 36
1845 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 36
1846 c NNN025 Noonan Syndrome 10 36
1847 c MCK030 Meckel Syndrome, Type 7 36
1848 c USH042 Usher Syndrome, Type Ig 36
1849 GPS001 Gapo Syndrome 36
1850 c RTN044 Retinitis Pigmentosa 14 36
1851 c SPL033 Split-Hand/foot Malformation 6 36
1852 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 36
1853 OVR093 Overhydrated Hereditary Stomatocytosis 36
1854 c CRB094 Cerebral Cavernous Malformations 3 36
1855 c RTN131 Retinitis Pigmentosa 27 36
1856 c BRD045 Bardet-Biedl Syndrome 19 36
1857 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 36
1858 CRD220 Cardiac Valvular Defect, Developmental 36
1859 CHR501 Chromosome 17q12 Deletion Syndrome 36
1860 c NRC010 Narcolepsy 2 36
1861 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 36
1862 c FNC048 Fanconi Anemia, Complementation Group O 36
1863 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 36
1864 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
1865 c BRT038 Baraitser-Winter Syndrome 1 36
1866 c RTN090 Retinitis Pigmentosa 55 36
1867 PRM056 Primrose Syndrome 35
1868 P ANT061 Antenatal Bartter Syndrome 35
1869 P BRN042 Branchiootic Syndrome 35
1870 P SPC019 Specific Language Impairment 35
1871 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1872 SNG007 Sengers Syndrome 35
1873 c FNC062 Fanconi Anemia, Complementation Group S 35
1874 c MCK014 Meckel Syndrome, Type 5 35
1875 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35
1876 c MCP051 Mucopolysaccharidosis, Type Ix 35
1877 EPP011 Epiphyseal Chondrodysplasia, Miura Type 35
1878 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 35
1879 P CLS054 Classic Ehlers-Danlos Syndrome 35
1880 PTT045 Pituitary Hormone Deficiency, Combined, 1 35
1881 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 35
1882 c LBR007 Leber Congenital Amaurosis 12 35
1883 c NPH054 Nephrotic Syndrome, Type 3 35
1884 c RTN047 Retinitis Pigmentosa 18 35
1885 c LNG056 Long Qt Syndrome 12 35
1886 EPT021 Epithelial Recurrent Erosion Dystrophy 35
1887 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
1888 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
1889 c NML006 Nemaline Myopathy 5 35
1890 c HYP559 Hypotrichosis 8 35
1891 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 35
1892 c WLF009 Wolfram Syndrome 2 35
1893 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1894 c TRC078 Trichohepatoenteric Syndrome 2 35
1895 P ENC056 Encephalopathy, Acute, Infection-Induced 4 35
1896 TRM011 Terminal Osseous Dysplasia 35
1897 OGD001 Ogden Syndrome 35
1898 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
1899 CMP040 Complement Component 4, Partial Deficiency of 35
1900 c SVR040 Severe Congenital Nemaline Myopathy 35
1901 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
1902 c RTN054 Retinitis Pigmentosa 25 34
1903 P PRR025 Perrault Syndrome 34
1904 ACR043 Acromicric Dysplasia 34
1905 CRB081 Cerebellar Ataxia, Cayman Type 34
1906 c RTN186 Retinitis Pigmentosa 75 34
1907 P BRT040 Baraitser-Winter Syndrome 34
1908 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34
1909 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
1910 c NNN020 Noonan Syndrome 7 34
1911 FLT009 Folate Malabsorption, Hereditary 34
1912 c LBR011 Leber Congenital Amaurosis 16 34
1913 c PRM031 Primary Autosomal Recessive Microcephaly 34
1914 c WRB003 Warburg Micro Syndrome 2 34
1915 c SPH016 Spherocytosis, Type 4 34
1916 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
1917 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 34
1918 c OVR075 Ovarian Dysgenesis 1 34
1919 INF159 Infantile Sialic Acid Storage Disease 34
1920 c DYS067 Dystonia 6, Torsion 34
1921 c ICH023 Ichthyosis, Acquired 34
1922 GLS018 Glass Syndrome 34
1923 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34
1924 c RTN055 Retinitis Pigmentosa 26 34
1925 c RTN149 Retinitis Pigmentosa 42 34
1926 P AST055 Asthma-Related Traits 1 34
1927 P BST001 Bestrophinopathy 34
1928 BSL037 Basal Laminar Drusen 34
1929 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 34
1930 c BRD047 Bardet-Biedl Syndrome 16 34
1931 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
1932 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
1933 CHR377 Chromosome 10q26 Deletion Syndrome 34
1934 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 34
1935 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
1936 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
1937 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
1938 c ORT011 Orthostatic Hypotension 1 33
1939 c CTR141 Cataract 21, Multiple Types 33
1940 c FNC052 Fanconi Anemia, Complementation Group T 33
1941 c HTR021 Heterotaxy, Visceral, 5, Autosomal 33
1942 c MYT027 Myotonia Congenita, Autosomal Dominant 33
1943 c GLP003 Geleophysic Dysplasia 1 33
1944 KLL014 Kelley-Seegmiller Syndrome 33
1945 c RTN165 Retinitis Pigmentosa 68 33
1946 c THY084 Thyrotoxic Periodic Paralysis 1 33
1947 c WRD010 Waardenburg Syndrome Type 4 33
1948 c KLF004 Kleefstra Syndrome 1 33
1949 c LBR005 Leber Congenital Amaurosis 10 33
1950 c SPL025 Split-Hand/foot Malformation 5 33
1951 c CTR118 Cataract 14, Multiple Types 33
1952 c MYP079 Myopathy, Myofibrillar, 5 33
1953 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 33
1954 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
1955 P 3MT007 3-Methylglutaconic Aciduria 33
1956 c CTR122 Cataract 5, Multiple Types 33
1957 c RTN062 Retinitis Pigmentosa 33 33
1958 c AXN012 Axenfeld-Rieger Syndrome, Type 2 33
1959 P ATR022 Atrial Septal Defect 3 33
1960 GBT001 Gaba-Transaminase Deficiency 33
1961 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 33
1962 c DMN021 Diamond-Blackfan Anemia 6 33
1963 WDH003 Woodhouse-Sakati Syndrome 33
1964 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 33
1965 P MYS032 Myosin Storage Myopathy 33
1966 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 33
1967 c CNG379 Congenital Disorder of Glycosylation, Type It 33
1968 c RTN059 Retinitis Pigmentosa 30 33
1969 HSD004 Hsd10 Mitochondrial Disease 33
1970 P WRB001 Warburg Micro Syndrome 33
1971 OLV004 Oliver-Mcfarlane Syndrome 33
1972 c FNC047 Fanconi Anemia, Complementation Group Q 33
1973 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
1974 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1975 c RTN051 Retinitis Pigmentosa 22 33
1976 c PRR020 Perrault Syndrome 1 33
1977 CLR133 Colorblindness, Partial, Protan Series 33
1978 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1979 c RTN042 Retinitis Pigmentosa 12 32
1980 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 32
1981 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
1982 CRT045 Creatine Phosphokinase, Elevated Serum 32
1983 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 32
1984 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 32
1985 c SPN105 Spinocerebellar Ataxia 4 32
1986 BRC004 Brachydactyly-Syndactyly Syndrome 32
1987 c MCR329 Microcephaly, Autosomal Dominant 32
1988 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1989 c RTN133 Retinitis Pigmentosa 43 32
1990 c RTN056 Retinitis Pigmentosa 28 32
1991 P CLC008 Colchicine Resistance 32
1992 c SPN095 Spinocerebellar Ataxia 19 32
1993 c CTR103 Cataract 4, Multiple Types 32
1994 c EPL133 Epilepsy, Juvenile Absence 1 32
1995 c SPN383 Spinocerebellar Ataxia 42 32
1996 c SYN084 Synpolydactyly 1 32
1997 c CTR145 Cataract 44 32
1998 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
1999 P OTF004 Otofaciocervical Syndrome 1 32
2000 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
2001 P KNB001 Knobloch Syndrome 32
2002 c HRD146 Hereditary Methemoglobinemia 32
2003 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 32
2004 c JBR041 Joubert Syndrome 3 32
2005 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
2006 c GLP004 Geleophysic Dysplasia 2 32
2007 P MTP005 Metaphyseal Anadysplasia 32
2008 c RTN050 Retinitis Pigmentosa 20 32
2009 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
2010 c ORT012 Orthostatic Hypotension 2 32
2011 c WLL036 Weill-Marchesani Syndrome 1 32
2012 PHS022 Phosphoserine Phosphatase Deficiency 32
2013 c RTN067 Retinitis Pigmentosa 41 32
2014 c NNS043 Nonsyndromic Retinitis Pigmentosa 32
2015 c HMC034 Hemochromatosis, Type 5 32
2016 c CHR135 Charcot-Marie-Tooth Disease Type 2a 32
2017 P RTS001 Ritscher-Schinzel Syndrome 31
2018 c RTN129 Retinitis Pigmentosa 49 31
2019 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 31
2020 c AMY088 Amyotrophic Lateral Sclerosis 3 31
2021 c OST134 Osteopetrosis, Autosomal Recessive 6 31
2022 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
2023 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
2024 c SPH017 Spherocytosis, Type 5 31
2025 c CNR013 Cone-Rod Dystrophy 12 31
2026 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
2027 CMB020 Combined Saposin Deficiency 31
2028 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31
2029 P CRN249 Cornea Plana 31
2030 c RTN134 Retinitis Pigmentosa 40 31
2031 c MCK034 Meckel Syndrome, Type 8 31
2032 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 31
2033 c CTR095 Cataract 8, Multiple Types 31
2034 c RTN046 Retinitis Pigmentosa 17 31
2035 c ATR062 Atrial Septal Defect 1 31
2036 c RTN068 Retinitis Pigmentosa 6 31
2037 c FML250 Familial Progressive Cardiac Conduction Defect 31
2038 c CTR158 Cataract 37 31
2039 SRC015 Sarcosinemia 31
2040 c EPS037 Episodic Ataxia, Type 4 31
2041 MYP120 Myopathy, Distal, with Rimmed Vacuoles 31
2042 c HYP515 Hypotrichosis 3 31
2043 c INT274 Intermediate Congenital Nemaline Myopathy 31
2044 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 31
2045 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 31
2046 c CND011 Cone Dystrophy 3 31
2047 c JBR025 Joubert Syndrome 17 31
2048 c RTN064 Retinitis Pigmentosa 35 31
2049 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
2050 c RTN116 Retinitis Pigmentosa 56 31
2051 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
2052 c CCK002 Cockayne Syndrome Type I 31
2053 P HYP700 Hypomyelinating Leukodystrophy 31
2054 c AML057 Amelogenesis Imperfecta, Type Iiia 31
2055 ARL004 Aural Atresia, Congenital 31
2056 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
2057 HYP540 Hypertension, Diastolic 31
2058 c AMY023 Amyotrophic Lateral Sclerosis Type 6 31
2059 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
2060 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
2061 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
2062 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
2063 MYC071 Myoclonic-Atonic Epilepsy 31
2064 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 31
2065 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
2066 c LBR013 Leber Congenital Amaurosis 3 30
2067 P MCR122 Microphthalmia, Isolated 5 30
2068 c RTN169 Retinitis Pigmentosa 70 30
2069 c SCK011 Seckel Syndrome 5 30
2070 P FNC026 Fanconi Renotubular Syndrome 1 30
2071 CHT006 Chitayat Syndrome 30
2072 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
2073 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
2074 CRY019 Cryohydrocytosis 30
2075 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
2076 RBS005 Ribose 5-Phosphate Isomerase Deficiency 30
2077 c JVN015 Juvenile Huntington Disease 30
2078 PRT130 Protein Z Deficiency 30
2079 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 30
2080 c RTN114 Retinitis Pigmentosa 58 30
2081 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 30
2082 c MYP080 Myopathy, Myofibrillar, 4 30
2083 c CRN109 Cranioectodermal Dysplasia 2 30
2084 c BST008 Bestrophinopathy, Autosomal Recessive 30
2085 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
2086 c JBR022 Joubert Syndrome 20 30
2087 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 30
2088 c CNG188 Congenital Disorder of Glycosylation, Type if 30
2089 c ACQ027 Acquired Cutis Laxa 30
2090 HYP823 Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 30
2091 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
2092 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 30
2093 c WLL037 Weill-Marchesani Syndrome 2 30
2094 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
2095 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
2096 ALZ030 Alazami Syndrome 30
2097 ALG027 Al-Gazali-Bakalinova Syndrome 30
2098 c THY083 Thyrotoxic Periodic Paralysis 2 30
2099 P HRD144 Hereditary Mixed Polyposis Syndrome 30
2100 PHS014 Phosphoglycerate Kinase 1 Deficiency 30
2101 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
2102 BMB001 Bombay Phenotype 30
2103 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 30
2104 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
2105 c EPS015 Episodic Ataxia, Type 7 30
2106 MCR183 Microcephaly-Capillary Malformation Syndrome 30
2107 c CTR132 Cataract 3, Multiple Types 30
2108 c SCK010 Seckel Syndrome 4 30
2109 c CNG223 Congenital Methemoglobinemia 30
2110 c RTN171 Retinitis Pigmentosa 59 30
2111 c RTN210 Retinitis Pigmentosa 50 30
2112 c ACR081 Aicardi-Goutieres Syndrome 6 30
2113 c RTN152 Retinitis Pigmentosa 66 30
2114 c CTR125 Cataract 7 30
2115 c CCK003 Cockayne Syndrome Type Ii 30
2116 c PRX060 Peroxisome Biogenesis Disorder 5a 30
2117 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
2118 TKN001 Takenouchi-Kosaki Syndrome 30
2119 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 30
2120 IMM002 Immature Cataract 30
2121 P TRG016 Trigonocephaly 1 30
2122 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
2123 PRP093 Pierpont Syndrome 30
2124 c JBR012 Joubert Syndrome 5 29
2125 P VNM004 Van Maldergem Syndrome 29
2126 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 29
2127 GLT005 Glutamate Formiminotransferase Deficiency 29
2128 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 29
2129 c LSS010 Lissencephaly 4 29
2130 c DYS139 Dyschromatosis Universalis Hereditaria 3 29
2131 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
2132 c STS007 Sotos Syndrome 2 29
2133 c PRX063 Peroxisome Biogenesis Disorder 2a 29
2134 c NPH072 Nephrotic Syndrome, Type 7 29
2135 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 29
2136 P INV008 Invasive Pneumococcal Disease, Recurrent Isolated, 1 29
2137 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
2138 HST022 Histiocytoma, Angiomatoid Fibrous 29
2139 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 29
2140 HRD073 Hereditary Myopathy with Early Respiratory Failure 29
2141 P SCH077 Schwannomatosis 1 29
2142 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
2143 c APL023 Aplasia Cutis Congenita, Nonsyndromic 29
2144 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
2145 c TRM024 Tremor, Hereditary Essential, 1 29
2146 c USH031 Usher Syndrome, Type Ij 29
2147 c RBN008 Rubinstein-Taybi Syndrome 2 29
2148 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
2149 VND005 Van Den Ende-Gupta Syndrome 29
2150 P DSB002 Desbuquois Dysplasia 29
2151 GLT028 Glutaric Aciduria Iii 29
2152 HYP267 Hyperchlorhidrosis, Isolated 29
2153 c HRM020 Hermansky-Pudlak Syndrome 10 29
2154 SVN002 Sveinsson Chorioretinal Atrophy 29
2155 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
2156 c ANR046 Aniridia 3 29
2157 c CFF007 Coffin-Siris Syndrome 2 29
2158 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
2159 c ART112 Arthrogryposis, Distal, Type 10 29
2160 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 29
2161 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 29
2162 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 29
2163 P LTH003 Lethal Congenital Contracture Syndrome 29
2164 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
2165 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
2166 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
2167 WTT002 Witteveen-Kolk Syndrome 29
2168 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 29
2169 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
2170 c DSB005 Desbuquois Dysplasia 2 29
2171 MCR096 Macrocephaly/autism Syndrome 29
2172 c GLY097 Glycogen Storage Disease Ixb 29
2173 c SYM022 Symphalangism, Proximal, 1a 29
2174 c PRX056 Peroxisome Biogenesis Disorder 11b 29
2175 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
2176 c RTN057 Retinitis Pigmentosa 29 29
2177 c USH030 Usher Syndrome, Type Ik 29
2178 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
2179 c GLY017 Glycogen Storage Disease Ic 29
2180 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
2181 c HYP525 Hypotrichosis 2 29
2182 P ATX039 Ataxia-Pancytopenia Syndrome 29
2183 c GLY009 Glycogen Storage Disease Xv 29
2184 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
2185 PLY110 Polymicrogyria, Bilateral Temporooccipital 28
2186 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
2187 ACR004 Acrokeratosis Verruciformis 28
2188 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 28
2189 c CTR175 Cataract 24 28
2190 c HYP577 Hypotrichosis 13 28
2191 c TYP035 Type 1 Diabetes Mellitus 11 28
2192 DRR013 Diarrhea 8, Secretory Sodium, Congenital 28
2193 c RTN053 Retinitis Pigmentosa 24 28
2194 c ERL012 Early-Onset Glaucoma 28
2195 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 28
2196 P PRD037 Periodontal Ehlers-Danlos Syndrome 28
2197 FLP001 Filippi Syndrome 28
2198 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
2199 c AML017 Amelogenesis Imperfecta, Type Ib 28
2200 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 28
2201 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
2202 c NGH029 Night Blindness, Congenital Stationary, Type 1e 28
2203 c ACQ047 Acquired Methemoglobinemia 28
2204 LRY022 Laryngoonychocutaneous Syndrome 28
2205 STR099 Striatonigral Degeneration, Infantile, Mitochondrial 28
2206 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 28
2207 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
2208 c ANR047 Aniridia 2 28
2209 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 28
2210 CHT005 Chitotriosidase Deficiency 28
2211 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 28
2212 c PRS080 Prostate Cancer, Hereditary, 7 28
2213 P ZMM001 Zimmermann-Laband Syndrome 28
2214 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 28
2215 STL007 Steel Syndrome 28
2216 c GLY043 Glycogen Storage Disease Xii 28
2217 c BRT039 Baraitser-Winter Syndrome 2 28
2218 c RTN106 Retinitis Pigmentosa 51 28
2219 c NNS018 Nonsyndromic Paraganglioma 28
2220 c CTR121 Cataract 25 28
2221 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
2222 c ATS307 Autosomal Recessive Cerebellar Ataxia 28
2223 c GLY057 Glycogen Storage Disease X 28
2224 c ART104 Arthrogryposis, Distal, Type 5d 28
2225 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
2226 SPC026 Specific Granule Deficiency 1 28
2227 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
2228 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 28
2229 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 28
2230 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
2231 BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 28
2232 c PRX048 Peroxisome Biogenesis Disorder 10a 28
2233 c PRX054 Peroxisome Biogenesis Disorder 12a 28
2234 TTT001 Tatton-Brown-Rahman Syndrome 28
2235 P TRC031 Trichorhinophalangeal Syndrome 28
2236 P BCT020 Bacteremia 2 28
2237 c PRX053 Peroxisome Biogenesis Disorder 14b 28
2238 CHR399 Chromosome 4q21 Deletion Syndrome 28
2239 MYP097 Myopathy with Lactic Acidosis, Hereditary 28
2240 c MCR245 Microphthalmia, Syndromic 8 28
2241 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
2242 ALZ029 Alzheimer Disease Mitochondrial 28
2243 c SPN098 Spinocerebellar Ataxia 25 27
2244 c PRS097 Prostate Cancer, Hereditary, 1 27
2245 SCH037 Schinzel-Giedion Midface Retraction Syndrome 27
2246 c PRG020 Paragangliomas 3 27
2247 c LBR015 Leber Congenital Amaurosis 5 27
2248 c FML272 Familial Sick Sinus Syndrome 27
2249 c LPR022 Leprosy 2 27
2250 HYP682 Hypertelorism, Teebi Type 27
2251 c INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 27
2252 LSC003 Luscan-Lumish Syndrome 27
2253 c WSK002 Wiskott-Aldrich Syndrome 2 27
2254 c FRN033 Frontonasal Dysplasia 2 27
2255 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 27
2256 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
2257 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 27
2258 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 27
2259 c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 27
2260 c TRG015 Trigonocephaly 2 27
2261 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
2262 c CTR174 Cataract 40 27
2263 ANH003 Anhaptoglobinemia 27
2264 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 27
2265 CRB147 Cerebellofaciodental Syndrome 27
2266 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
2267 c RTN140 Retinitis Pigmentosa 67 27
2268 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
2269 c CLR091 Ciliary Dyskinesia, Primary, 14 27
2270 c INF122 Infantile Krabbe Disease 27
2271 c TYP037 Type 1 Diabetes Mellitus 13 27
2272 c LBR009 Leber Congenital Amaurosis 14 27
2273 c AMY089 Amyotrophic Lateral Sclerosis 7 27
2274 P STR092 Striatal Degeneration, Autosomal Dominant 2 27
2275 c RTN146 Retinitis Pigmentosa 62 27
2276 MST021 Meester-Loeys Syndrome 27
2277 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
2278 ELS006 Elsahy-Waters Syndrome 27
2279 c JBR014 Joubert Syndrome 9 27
2280 c PRX051 Peroxisome Biogenesis Disorder 6a 27
2281 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 27
2282 c LNG098 Long Qt Syndrome 14 27
2283 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
2284 c PRS031 Prostate Carcinoma in Situ 27
2285 c CRP022 Carpenter Syndrome 2 27
2286 c PSD107 Pseudo-Torch Syndrome 2 27
2287 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
2288 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
2289 c INF002 Inflammatory Diarrhea 27
2290 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
2291 c ANG045 Angioedema, Hereditary, Type Iii 27
2292 c 46X049 46,xy Sex Reversal 2 26
2293 CMB017 Combined Oxidative Phosphorylation Deficiency 6 26
2294 c MCL078 Macular Degeneration, Age-Related, 14 26
2295 c 46X048 46,xx Sex Reversal 2 26
2296 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 26
2297 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 26
2298 c MCR352 Microphthalmia, Isolated, with Coloboma 6 26
2299 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
2300 c GLY006 Glycogen Storage Disease Viii 26
2301 c RTN052 Retinitis Pigmentosa 23 26
2302 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 26
2303 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
2304 c AMY055 Amyotrophic Lateral Sclerosis 17 26
2305 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
2306 c PLM127 Pulmonary Hypertension, Primary, 3 26
2307 c OTF003 Otofaciocervical Syndrome 2 26
2308 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 26
2309 P OVR076 Ovarian Dysgenesis 2 26
2310 c TYP033 Type 1 Diabetes Mellitus 7 26
2311 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
2312 c SPS091 Spastic Paraplegia 4 26
2313 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 26
2314 c PRR026 Perrault Syndrome 5 26
2315 c SPN372 Spinocerebellar Ataxia 43 26
2316 c BRC099 Brachydactyly, Type A4 26
2317 DGT002 Digital Clubbing, Isolated Congenital 26
2318 GBR007 Gabriele-De Vries Syndrome 26
2319 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
2320 c DMN017 Diamond-Blackfan Anemia 10 26
2321 c JBR026 Joubert Syndrome 15 26
2322 c BRN128 Branchiootic Syndrome 3 26
2323 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 26
2324 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
2325 HMX003 Heme Oxygenase 1 Deficiency 26
2326 CLR132 Colorblindness, Partial, Deutan Series 26
2327 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 26
2328 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 26
2329 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 26
2330 c RTN176 Retinitis Pigmentosa 71 26
2331 c OST120 Osteopetrosis, Autosomal Recessive 5 26
2332 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
2333 P ADP010 Adiponectin, Serum Level of, Quantitative Trait Locus 1 26
2334 c ALB017 Albinism, Oculocutaneous, Type Vi 26
2335 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
2336 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
2337 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
2338 c MYP148 Myopathy, Centronuclear, 5 26
2339 c GLL040 Galloway-Mowat Syndrome 3 26
2340 c PRT060 Parietal Foramina 2 26
2341 c PRM089 Premature Ovarian Failure 3 26
2342 c BRD050 Bardet-Biedl Syndrome 21 26
2343 c THR069 Three M Syndrome 2 26
2344 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
2345 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
2346 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
2347 c CCK004 Cockayne Syndrome Type Iii 26
2348 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
2349 c KBK003 Kabuki Syndrome 2 26
2350 P PRM227 Primary Orthostatic Hypotension 26
2351 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
2352 MRG001 Morgagni Cataract 26
2353 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 26
2354 c CRN110 Cranioectodermal Dysplasia 3 26
2355 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
2356 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
2357 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
2358 c CRT085 Carotid Intimal Medial Thickness 2 25
2359 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 25
2360 c PRX050 Peroxisome Biogenesis Disorder 9b 25
2361 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
2362 c RTN060 Retinitis Pigmentosa 31 25
2363 c NPH047 Nephrotic Syndrome, Type 4 25
2364 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
2365 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
2366 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 25
2367 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
2368 PRT131 Partial Trisomy Distal 4q 25
2369 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
2370 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
2371 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 25
2372 c PLM121 Pulmonary Hypertension, Primary, 4 25
2373 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 25
2374 c JBR031 Joubert Syndrome 21 25
2375 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
2376 c LYM151 Lymphoproliferative Syndrome 3 25
2377 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 25
2378 c GLL027 Gallbladder Disease 4 25
2379 CMP087 Complement Component 7 Deficiency 25
2380 c NPH102 Nephrotic Syndrome, Type 14 25
2381 c ATS210 Autosomal Recessive Sideroblastic Anemia 25
2382 c PRX046 Peroxisome Biogenesis Disorder 7a 25
2383 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 25
2384 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
2385 c PRX091 Peroxisome Biogenesis Disorder 8a 25
2386 c JBR016 Joubert Syndrome 10 25
2387