Genetic Diseases Category (7029 diseases)


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

# Family MCID Name MIFTS
1 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
2 P ERY058 Erythrocytosis, Familial, 1 55
3 FML026 Familial Lipoprotein Lipase Deficiency 46
4 AMY082 Amyloidosis, Familial Visceral 47
5 FML089 Familial Thoracic Aortic Aneurysm and Dissection 51
6 AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57
7 P SZR006 Seizure Disorder 55
8 TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50
9 c SZR007 Seizures, Benign Familial Infantile, 3 46
10 P MLT048 Multiple Familial Trichoepithelioma 30
11 P FML018 Familial Mediterranean Fever 73
12 c PRG126 Progressive Familial Heart Block 46
13 P HRT035 Heart Block, Congenital 45
14 P FML011 Familial Adenomatous Polyposis 71
15 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 37
16 P HYP607 Hypercholesterolemia, Familial 81
17 HYP190 Hypoalphalipoproteinemia, Primary 61
18 P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57
19 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 45
20 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
21 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 30
22 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
23 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
24 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 23
25 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 22
26 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 17
27 c SZR014 Seizures, Benign Familial Infantile, 1 25
28 P CND004 Candidiasis 61
29 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
30 c CND037 Candidiasis, Familial, 6 19
31 BNG006 Benign Familial Neonatal Epilepsy 36
32 P PLY018 Polycythemia 60
33 c PRG042 Progressive Familial Heart Block, Type Ia 57
34 c PRM012 Primary Polycythemia 53
35 c ACQ010 Acquired Polycythemia 33
36 HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 24
37 c ATS209 Autosomal Dominant Secondary Polycythemia 16
38 c PLY005 Polycythemia Due to Hypoxia 6
39 c LPD015 Lipodystrophy, Familial Partial, Type 2 55
40 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
41 c LPD019 Lipodystrophy, Partial, Acquired 38
42 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
43 P BNG026 Benign Neonatal Seizures 37
44 P FML052 Familial Cold Autoinflammatory Syndrome 55
45 P EPS030 Episodic Kinesigenic Dyskinesia 1 33
46 c EPS013 Episodic Kinesigenic Dyskinesia 2 24
47 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 54
48 FTL002 Fatal Familial Insomnia 49
49 ATT003 Attenuated Familial Adenomatous Polyposis 45
50 FML157 Familial Male-Limited Precocious Puberty 28
51 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 24
52 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 18
53 P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33
54 MTR030 Mitral Valve Prolapse, Familial, X-Linked 16
55 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 14
56 P PTT006 Pituitary Adenoma 57
57 c PTT056 Pituitary Adenoma 1, Multiple Types 46
58 c PTT060 Pituitary Adenoma 5, Multiple Types 14
59 c PTT061 Pituitary Adenoma 3, Multiple Types 13
60 P HYP724 Hyperlipoproteinemia, Type Iii 59
61 c CND034 Candidiasis, Familial, 2 35
62 CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 35
63 c HYP819 Hyperlipoproteinemia, Type Id 19
64 P FML012 Familial Partial Lipodystrophy 53
65 c FML023 Familial Hemiplegic Migraine 51
66 P HMP006 Hemiplegic Migraine 49
67 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
68 c PRG043 Progressive Familial Heart Block, Type Ib 40
69 c PRG101 Progressive Familial Heart Block, Type Ii 24
70 LRY047 Laryngeal Abductor Paralysis 24
71 CNV009 Convulsions Benign Familial Neonatal Dominant Form 17
72 P HYP069 Hyperparathyroidism 58
73 c HYP731 Hyperaldosteronism, Familial, Type I 56
74 c MYC068 Myoclonic Epilepsy of Infancy 38
75 c HYP311 Hyperparathyroidism 3 37
76 c LPD021 Lipodystrophy, Familial Partial, Type 3 36
77 P FML156 Familial Hyperaldosteronism 35
78 P EPL198 Epilepsy, Myoclonic Juvenile 29
79 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 25
80 c EPL210 Epilepsy, Progressive Myoclonic, 6 24
81 c EPL134 Epilepsy, Progressive Myoclonic 7 24
82 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
83 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
84 c EPL154 Epilepsy, Progressive Myoclonic, 9 21
85 c EPL155 Epilepsy, Progressive Myoclonic, 8 19
86 c HYP720 Hyperparathyroidism 4 18
87 c MYC086 Myoclonic Epilepsy, Juvenile 4 17
88 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
89 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
90 c PRG133 Progressive Myoclonic Epilepsy Type 5 13
91 c EPL009 Epilepsy Progressive Myoclonic Type 3 9
92 c FML346 Familial Adenomatous Polyposis 1 63
93 c ALZ056 Alzheimer Disease 3 41
94 CYL004 Cylindromatosis, Familial 29
95 c ALZ062 Alzheimer Disease 19 26
96 c ALZ045 Alzheimer Disease 9 22
97 c ALZ015 Alzheimer Disease 6 22
98 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
99 c ALZ059 Alzheimer Disease 13 17
100 c ALZ060 Alzheimer Disease 14 17
101 c ALZ032 Alzheimer Disease 18 16
102 c ALZ031 Alzheimer Disease 17 15
103 c ALZ014 Alzheimer Disease 16 15
104 c ALZ061 Alzheimer Disease 15 15
105 P NTR004 Neutropenia 60
106 c SVR003 Severe Congenital Neutropenia 58
107 c FML116 Familial Cold Autoinflammatory Syndrome 1 56
108 EWN002 Ewing's Family of Tumors 49
109 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
110 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 32
111 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
112 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
113 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
114 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
115 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
116 c NTR045 Neutropenia, Chronic Familial 18
117 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
118 GNV002 Genu Valgum, St. Helena Familial 12
119 PRC038 Precocious Puberty, Male-Limited 46
120 FML063 Familial Glucocorticoid Deficiency 35
121 BKS003 Beukes Hip Dysplasia 32
122 c LPD040 Lipodystrophy, Familial Partial, Type 1 28
123 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
124 P EPL164 Epilepsy 70
125 P HYP614 Hyperlipidemia, Familial Combined 57
126 P PRN026 Porencephaly 50
127 c BNG023 Benign Familial Infantile Epilepsy 42
128 c HYP243 Hyperparathyroidism 1 40
129 P FML043 Familial Idiopathic Basal Ganglia Calcification 40
130 c FML084 Familial Porencephaly 37
131 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
132 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 22
133 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 20
134 c PRN047 Porencephaly 2 19
135 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
136 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 16
137 c ACQ029 Acquired Porencephaly 13
138 P ATR011 Atrial Fibrillation 68
139 c FML001 Familial Atrial Fibrillation 55
140 c HYP768 Hyperlipoproteinemia, Type I 44
141 P ADV001 Advanced Sleep Phase Syndrome 36
142 TMP005 Temporal Epilepsy, Familial 17
143 MCR031 Macrocephaly, Benign Familial 16
144 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
145 c MGR032 Migraine, Familial Hemiplegic, 1 32
146 c SZR023 Seizures, Benign Familial Neonatal, 2 31
147 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 25
148 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 21
149 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44
150 DYS182 Dysphasia, Familial Developmental 29
151 c ART028 Aortic Aneurysm, Familial Thoracic 4 27
152 c CND036 Candidiasis, Familial, 4 24
153 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
154 ACN018 Acne Inversa, Familial, 1 22
155 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
156 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55
157 P TRT019 Torticollis 45
158 CPL013 Capillary Malformations, Congenital 39
159 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 36
160 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35
161 c MTR080 Mitral Valve Prolapse 1 34
162 c HYP600 Hyperaldosteronism, Familial, Type Ii 33
163 P PRS124 Presynaptic Congenital Myasthenic Syndromes 28
164 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 22
165 c CNG129 Congenital Torticollis 22
166 c MTR083 Mitral Valve Prolapse 3 21
167 THM023 Thiemann Disease 20
168 IMM153 Immunodeficiency 51 20
169 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 19
170 c MTR077 Mitral Valve Prolapse 2 18
171 CPP001 Copper Deficiency, Familial Benign 18
172 CRN069 Corneal Hypesthesia, Familial 16
173 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
174 OSS006 Ossicular Malformations, Familial 11
175 FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
176 c TRT007 Torticollis, Familial 9
177 P HYP818 Hypobetalipoproteinemia, Familial, 1 54
178 P HYP599 Hypoparathyroidism, Familial Isolated 39
179 c SZR022 Seizures, Benign Familial Neonatal, 1 39
180 EXD009 Exudative Vitreoretinopathy 2, X-Linked 32
181 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 21
182 c HYP290 Hypobetalipoproteinemia, Familial, 2 18
183 P PLR004 Pleuropulmonary Blastoma 62
184 P HYP050 Hyperinsulinemic Hypoglycemia 55
185 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 53
186 VTM028 Vitamin E, Familial Isolated Deficiency of 52
187 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 52
188 c BRS110 Breast-Ovarian Cancer, Familial 1 38
189 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 30
190 c HYP438 Hyperaldosteronism, Familial, Type Iii 28
191 FML168 Familial Isolated Pituitary Adenoma 28
192 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
193 c BRS111 Breast-Ovarian Cancer, Familial 2 19
194 c FML334 Familial Candidiasis 18
195 c BRS088 Breast-Ovarian Cancer, Familial 3 18
196 c BRS098 Breast-Ovarian Cancer, Familial 4 16
197 c PLR018 Pleuropulmonary Blastoma Type 1 11
198 c PLR020 Pleuropulmonary Blastoma Type 3 8
199 c PLR019 Pleuropulmonary Blastoma Type 2 8
200 P ART067 Aortic Aneurysm, Familial Thoracic 1 65
201 P EXD001 Exudative Vitreoretinopathy 51
202 P PSD003 Pseudohypoaldosteronism 47
203 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 47
204 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 45
205 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 45
206 P AMY084 Amyloidosis, Finnish Type 40
207 c PSD092 Pseudohypoaldosteronism, Type Iie 37
208 EPL128 Epilepsy, Familial Temporal Lobe, 3 30
209 c BNG079 Benign Adult Familial Myoclonic Epilepsy 30
210 c EXD004 Exudative Vitreoretinopathy 4 25
211 c EXD007 Exudative Vitreoretinopathy 3 20
212 c EXD006 Exudative Vitreoretinopathy 5 19
213 c EXD010 Exudative Vitreoretinopathy 6 19
214 c PSD068 Pseudohypoaldosteronism, Type Iic 19
215 c PSD094 Pseudohypoaldosteronism, Type Iib 18
216 c HYP804 Hyperlipidemia, Combined, 1 18
217 DWR023 Dwarfism, Familial, with Muscle Spasms 16
218 c TRN053 Transient Pseudohypoaldosteronism 16
219 c EXD012 Exudative Vitreoretinopathy 7 16
220 c MNN043 Meningioma, Familial 69
221 P FBR031 Febrile Seizures 52
222 P BNG002 Benign Meningioma 34
223 c FBR072 Febrile Seizures, Familial, 11 24
224 c TRC095 Trichoepithelioma, Multiple Familial, 1 21
225 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 21
226 c SZR016 Seizures, Benign Familial Infantile, 2 19
227 c SZR020 Seizures, Benign Familial Infantile, 5 17
228 c HRD010 Hereditary Spastic Paraplegia 68
229 P HYP040 Hypospadias 60
230 c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 54
231 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
232 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50
233 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50
234 P PTY003 Pityriasis Rubra Pilaris 48
235 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
236 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41
237 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41
238 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
239 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 40
240 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39
241 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38
242 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
243 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
244 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
245 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
246 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37
247 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
248 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
249 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 36
250 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
251 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
252 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
253 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 34
254 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
255 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
256 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34
257 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
258 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
259 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33
260 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
261 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
262 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
263 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32
264 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 32
265 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31
266 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
267 P SPS012 Spastic Paraplegia 3a 31
268 EPL115 Epilepsy, Familial Temporal Lobe, 2 30
269 P GLM015 Glomerulopathy with Fibronectin Deposits 2 30
270 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30
271 c MYC083 Myoclonic Epilepsy, Familial Infantile 30
272 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
273 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 30
274 c SPS031 Spastic Paraplegia 23 29
275 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
276 c SPS036 Spastic Paraplegia 3 28
277 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
278 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 28
279 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27
280 c HRD186 Hereditary Spastic Paraplegia 51 27
281 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 27
282 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
283 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
284 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26
285 c SPS092 Spastic Paraplegia 11 26
286 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
287 c SPS021 Spastic Paraplegia 10 26
288 VNT032 Ventricular Tachycardia, Familial 26
289 c SPS039 Spastic Paraplegia 5a 25
290 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
291 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 25
292 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 25
293 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
294 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24
295 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
296 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24
297 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 24
298 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24
299 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
300 c SPS025 Spastic Paraplegia 15 23
301 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23
302 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
303 ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 23
304 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
305 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
306 c SPS020 Spastic Paraplegia 1 20
307 c SPS013 Spastic Paraplegia 8 19
308 c SPS042 Spastic Paraplegia 9 19
309 c SPS037 Spastic Paraplegia 31 18
310 c SPS034 Spastic Paraplegia 26 18
311 c SPS023 Spastic Paraplegia 13 18
312 c SPS028 Spastic Paraplegia 18 18
313 c SPS027 Spastic Paraplegia 17 17
314 c SPS080 Spastic Paraplegia 51 16
315 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
316 c SPS022 Spastic Paraplegia 12 16
317 c SPS161 Spastic Paraplegia 32 15
318 c SPS035 Spastic Paraplegia 29 15
319 c SPS033 Spastic Paraplegia 25 15
320 c SPS032 Spastic Paraplegia 24 15
321 c HRD188 Hereditary Spastic Paraplegia 72 15
322 c SPS029 Spastic Paraplegia 19 15
323 c SPS026 Spastic Paraplegia 16 15
324 c SPS038 Spastic Paraplegia 39 14
325 c FML348 Familial Pityriasis Rubra Pilaris 14
326 c SPS024 Spastic Paraplegia 14 13
327 c PST093 Posterior Hypospadias 13
328 c SPS040 Spastic Paraplegia 5b 11
329 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
330 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
331 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
332 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
333 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
334 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
335 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
336 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
337 c HYP545 Hypospadias 3, Autosomal 11
338 c PRM005 Primary Hyperparathyroidism 59
339 P SCK002 Sick Sinus Syndrome 53
340 c MYS051 Myasthenic Syndrome, Congenital, 5 46
341 P PLM025 Pulmonary Venoocclusive Disease 42
342 P OPT070 Optic Nerve Hypoplasia, Bilateral 42
343 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 40
344 c MYS078 Myasthenic Syndrome, Congenital, 14 40
345 c MYS052 Myasthenic Syndrome, Congenital, 10 38
346 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 37
347 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 32
348 c MYS075 Myasthenic Syndrome, Congenital, 13 32
349 MYX012 Myxoma, Intracardiac 28
350 FML307 Familial Calcium Pyrophosphate Deposition 27
351 FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 26
352 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 25
353 c MYS076 Myasthenic Syndrome, Congenital, 8 24
354 c MYS056 Myasthenic Syndrome, Congenital, 17 24
355 c SCK017 Sick Sinus Syndrome 1 23
356 c MYS067 Myasthenic Syndrome, Congenital, 22 23
357 c MYS074 Myasthenic Syndrome, Congenital, 12 23
358 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
359 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 22
360 P HYD015 Hydroa Vacciniforme 22
361 c MYS064 Myasthenic Syndrome, Congenital, 16 22
362 IMM099 Immunodeficiency 33 21
363 c MYS070 Myasthenic Syndrome, Congenital, 19 21
364 c MYS065 Myasthenic Syndrome, Congenital, 18 21
365 c CRB051 Cerebral Cavernous Malformation, Familial 20
366 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
367 c MYS077 Myasthenic Syndrome, Congenital, 15 19
368 OST150 Osteodysplasia, Familial, Anderson Type 17
369 IMM172 Immunodeficiency 34 17
370 SHL003 Shoulder Girdle Defect Mental Retardation Familial 15
371 c SCK022 Sick Sinus Syndrome 3 13
372 c FML309 Familial Infantile Bilateral Striatal Necrosis 12
373 c HYD016 Hydroa Vacciniforme, Familial 10
374 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 9
375 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 9
376 UMB003 Umbilicus, Familial Flat 8
377 P CSH002 Cushing Syndrome, Familial 7
378 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
379 c HMR010 Hemeralopia, Congenital Essential 4
380 P HMR011 Hemeralopia, Familial 3
381 c EXD008 Exudative Vitreoretinopathy 1 65
382 c LPM012 Lipomatosis, Multiple 64
383 c ART138 Aortic Aneurysm, Familial Abdominal, 1 59
384 P LPM005 Lipomatosis 50
385 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 48
386 FML036 Familial Periodic Paralysis 41
387 DSM003 Desmoid Disease, Hereditary 40
388 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 39
389 c CHR630 Chorea, Benign Hereditary 33
390 c EPS039 Episodic Pain Syndrome, Familial, 1 33
391 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33
392 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 28
393 c FML339 Familial Adenomatous Polyposis 4 21
394 c CND025 Candidiasis, Familial, 8 21
395 c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21
396 ESN023 Eosinophilia, Familial 20
397 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 19
398 ACN016 Acne Inversa, Familial, 3 19
399 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16
400 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13
401 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13
402 c ALZ049 Alzheimer Disease 2 59
403 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 47
404 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
405 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 39
406 ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 38
407 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 36
408 INT304 Interstitial Pneumonitis, Desquamative, Familial 31
409 CHR525 Chromosome Xq26.3 Duplication Syndrome 31
410 P PRD017 Periodic Paralyses 29
411 c CRD176 Cardiomyopathy, Familial Restrictive, 1 27
412 c FML347 Familial Adenomatous Polyposis 2 24
413 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22
414 c CND033 Candidiasis, Familial, 1 22
415 c FBR069 Febrile Seizures, Familial, 4 19
416 c ANT041 Antiphospholipid Syndrome, Familial 18
417 P FML048 Familial Avascular Necrosis of the Femoral Head 17
418 DSC014 Discoid Fibromas, Familial Multiple 17
419 c ART105 Aortic Aneurysm, Familial Thoracic 7 16
420 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 16
421 DCR009 Dicer1-Related Disorders 16
422 c CRD098 Cardiomyopathy, Familial Restrictive, 3 16
423 c TRC094 Trichoepithelioma, Multiple Familial, 2 14
424 c FML159 Familial Periodic Paralyses 10
425 MLT051 Multiple Fibrofolliculoma Familial 6
426 P AMY004 Amyloidosis 69
427 P HLP001 Holoprosencephaly 67
428 P HYP802 Hypocalcemia, Autosomal Dominant 1 64
429 c HYP739 Hyperlipoproteinemia, Type Iv 51
430 P FML035 Familial Hyperlipidemia 48
431 c AMY009 Amyloidosis Aa 48
432 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48
433 c HRD039 Hereditary Amyloidosis 47
434 c ALZ050 Alzheimer Disease 5 44
435 c HLP023 Holoprosencephaly 1 43
436 c HLP024 Holoprosencephaly 2 40
437 c HLP026 Holoprosencephaly 3 39
438 c HLP029 Holoprosencephaly 4 38
439 P HYP733 Hypercalciuria, Absorptive, 2 37
440 LYS018 Loeys-Dietz Syndrome 2 33
441 c HLP028 Holoprosencephaly 5 32
442 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 32
443 LYS019 Loeys-Dietz Syndrome 1 31
444 c HLP027 Holoprosencephaly 7 30
445 ASP026 Asplenia, Isolated Congenital 29
446 IMM179 Immunodeficiency 31c 29
447 c HLP025 Holoprosencephaly 9 25
448 FML211 Familial Papillary or Follicular Thyroid Carcinoma 25
449 P INT260 Intracranial Berry Aneurysm 24
450 c HLP016 Holoprosencephaly 11 23
451 FML206 Familial Cerebral Saccular Aneurysm 22
452 c SCK014 Sick Sinus Syndrome 2 22
453 c HLP022 Holoprosencephaly 8 22
454 c PRM150 Primary Localized Amyloidosis 19
455 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
456 LNT008 Lentiginosis, Inherited Patterned 18
457 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
458 c CND027 Candidiasis, Familial, 3 16
459 GGN006 Gigantiform Cementoma, Familial 14
460 c FCL065 Facial Palsy, Familial Recurrent Peripheral 14
461 c SZR025 Seizures, Benign Familial Neonatal, 3 14
462 c FBR067 Febrile Seizures, Familial, 9 14
463 c NNS019 Nonsyndromic Holoprosencephaly 13
464 c AHM002 Ah Amyloidosis 13
465 c HLP021 Holoprosencephaly 6 13
466 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13
467 c ANR011 Aneurysm, Intracranial Berry, 2 13
468 c ANR028 Aneurysm, Intracranial Berry, 3 13
469 c ANR022 Aneurysm, Intracranial Berry, 4 12
470 c SZR011 Seizures, Benign Familial Infantile, 4 12
471 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 12
472 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
473 c ANR024 Aneurysm, Intracranial Berry, 9 10
474 c ANR030 Aneurysm, Intracranial Berry, 8 10
475 c ANR023 Aneurysm, Intracranial Berry, 7 10
476 c ANR029 Aneurysm, Intracranial Berry, 6 10
477 c HYP809 Hypercalciuria, Absorptive, 1 10
478 c ANR039 Aneurysm, Intracranial Berry, 11 10
479 c ANR025 Aneurysm, Intracranial Berry, 10 10
480 c ANR026 Aneurysm, Intracranial Berry, 5 10
481 c FBR076 Febrile Seizures, Familial, 7 10
482 P RCR003 Recurrent Peripheral Facial Palsy 9
483 NRB017 Neuroblastoma Breakpoint Family, Member 17, Pseudogene 9
484 THR043 Thrombomodulin Anomalies, Familial 7
485 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 6
486 FML088 Familial Streblodactyly 6
487 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 4
488 c ERY048 Erythrocytosis, Familial, 2 48
489 c HYP396 Hypercholesterolemia, Autosomal Recessive 37
490 c DYS165 Dysfibrinogenemia, Congenital 37
491 DYS140 Dyskinesia, Familial, with Facial Myokymia 25
492 DGT005 Digital Arthropathy-Brachydactyly, Familial 25
493 MYC066 Myoclonus, Familial Cortical 24
494 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 23
495 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
496 c FML117 Familial Cold Autoinflammatory Syndrome 2 22
497 c FML299 Familial Adenomatous Polyposis 3 21
498 EPL150 Epilepsy, Familial Temporal Lobe, 7 17
499 c EPS028 Episodic Pain Syndrome, Familial, 3 17
500 P PRK057 Parkinson Disease, Late-Onset 78
501 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 54
502 STT041 Stuttering 52
503 P CRY007 Cryoglobulinemia, Familial Mixed 49
504 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 49
505 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47
506 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 44
507 c ALZ054 Alzheimer Disease 4 43
508 EPL114 Epilepsy, Familial Temporal Lobe, 1 42
509 ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 38
510 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 37
511 c ERL047 Early-Onset Parkinson Disease 36
512 c TYP024 Type Ii Mixed Cryoglobulinemia 36
513 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
514 c PRK025 Parkinson Disease 10 33
515 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
516 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 30
517 P FML313 Familial Progressive Hyperpigmentation 30
518 c PRK093 Parkinson Disease 8, Autosomal Dominant 30
519 c PRK071 Parkinson Disease 14, Autosomal Recessive 29
520 P HYP078 Hypertrophy of Breast 27
521 CD8002 Cd8 Deficiency, Familial 27
522 c HRD173 Hereditary Late-Onset Parkinson Disease 26
523 P TTH010 Tooth Agenesis, Selective, 1 25
524 c PRK065 Parkinson Disease 20, Early-Onset 25
525 c PSD093 Pseudohypoaldosteronism, Type Iid 24
526 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
527 c PRK052 Parkinson Disease 17 23
528 GLC043 Glucocorticoid Deficiency 2 23
529 c PRK008 Parkinson Disease Type 9 22
530 HYP344 Hyperthyroidism, Familial Gestational 22
531 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 22
532 c PRK094 Parkinson Disease 11, Autosomal Dominant 22
533 HYP279 Hypercholanemia, Familial 22
534 c PRK070 Parkinson Disease 21 22
535 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
536 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
537 CLL041 Collagenoma, Familial Cutaneous 21
538 c PRK096 Parkinson Disease 13, Autosomal Dominant 21
539 c FML344 Familial Mediterranean Fever, Autosomal Dominant 21
540 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
541 c TTH013 Tooth Agenesis, Selective, 4 19
542 GLC053 Glucocorticoid Deficiency 3 19
543 ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 18
544 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
545 c JVN052 Juvenile-Onset Parkinson Disease 18
546 c ART071 Aortic Aneurysm, Familial Thoracic 6 18
547 c PRK058 Parkinson Disease 16 17
548 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 17
549 c TTH011 Tooth Agenesis, Selective, 2 16
550 c PRK022 Parkinson Disease 12 16
551 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
552 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 16
553 c ART133 Aortic Aneurysm, Familial Thoracic 11 16
554 EPL081 Epilepsy, Familial Temporal Lobe, 5 16
555 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
556 c TTH027 Tooth Agenesis, Selective, 8 15
557 c HYP678 Hypertrophy of the Breast, Juvenile 15
558 c TTH012 Tooth Agenesis, Selective, 3 15
559 EPL152 Epilepsy, Familial Temporal Lobe, 8 15
560 c TTH026 Tooth Agenesis, Selective, 7 14
561 c TTH025 Tooth Agenesis, Selective, 9 14
562 c PRK083 Parkinson Disease 22, Autosomal Dominant 14
563 c HYP333 Hyperlipidemia, Combined, 2 14
564 P XNC004 X Inactivation, Familial Skewed, 1 13
565 c TTH017 Tooth Agenesis, Selective, 5 13
566 c MXD037 Mixed Cryoglobulinemia Type Iii 13
567 FML160 Familial Spastic Paralysis 6
568 c SYS001 Systemic Lupus Erythematosus 86
569 P LPS004 Lupus Erythematosus 69
570 c WLM013 Wilms Tumor 1 69
571 P PLM036 Pulmonary Fibrosis 68
572 P KDN017 Kidney Cancer 66
573 c MLT160 Multiple Endocrine Neoplasia, Type Iia 65
574 HYP020 Hyperprolactinemia 64
575 P MYS005 Myositis 63
576 P HMN010 Hemangioma 61
577 c AFB002 Afibrinogenemia, Congenital 61
578 P OVR049 Ovarian Disease 58
579 c MLT159 Multiple Endocrine Neoplasia, Type Iib 56
580 P MLT074 Multiple Endocrine Neoplasia 55
581 c VSC019 Vesicoureteral Reflux 1 54
582 P OTS001 Otosclerosis 53
583 c MLT086 Multiple Endocrine Neoplasia, Type Iv 52
584 c WLM018 Wilms Tumor 5 49
585 P AFB001 Afibrinogenemia 49
586 HRT015 Heritable Pulmonary Arterial Hypertension 48
587 P HRD009 Hereditary Wilms' Tumor 46
588 c WLM011 Wilms Tumor 6 44
589 PRM237 Primary Hypomagnesemia 40
590 ACH015 Achalasia, Familial Esophageal 39
591 c FML297 Familial Thyroid Dyshormonogenesis 38
592 P MYG005 Myoglobinuria 37
593 DSQ001 Desquamative Interstitial Pneumonia 37
594 APL017 Apolipoprotein C-Ii Deficiency 36
595 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 36
596 P LTT001 Lattice Corneal Dystrophy 36
597 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 36
598 FML304 Familial Isolated Dilated Cardiomyopathy 36
599 c SYS061 Systemic Lupus Erythematosus 16 35
600 PSD021 Pseudovaginal Perineoscrotal Hypospadias 34
601 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 33
602 c CRN236 Corneal Dystrophy, Lattice Type I 33
603 c MYG007 Myoglobinuria, Recurrent 32
604 c SYS043 Systemic Lupus Erythematosus 1 32
605 c PSD090 Pseudohypoaldosteronism, Type Iia 32
606 c KDN016 Kidney Benign Neoplasm 31
607 c PRP091 Porphyria Cutanea Tarda, Type I 31
608 c PRV019 Periventricular Nodular Heterotopia 1 30
609 P FML284 Familial Vesicoureteral Reflux 29
610 FBR089 Fibrosclerosis, Multifocal 28
611 HYP249 Hyperthyroidism, Nonautoimmune 27
612 c HYP757 Hyperekplexia, Hereditary 1 26
613 c PMP006 Pemphigus Vulgaris, Familial 26
614 c FML272 Familial Sick Sinus Syndrome 26
615 c OTS005 Otosclerosis 1 25
616 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 25
617 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 25
618 HYP677 Hyperthyroxinemia, Familial Dysalbuminemic 25
619 c HYP699 Hyperekplexia 1 25
620 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
621 P THY061 Thyroid Dyshormonogenesis 2a 24
622 VLV047 Volvulus of Midgut 24
623 CRT040 Corticosterone Methyloxidase Type Ii Deficiency 24
624 EDC001 Edict Syndrome 24
625 c THY071 Thyroid Dyshormonogenesis 1 23
626 FLR007 Failure of Tooth Eruption, Primary 23
627 c LTT008 Lattice Corneal Dystrophy Type Ii 22
628 FCT029 Factor V and Factor Viii, Combined Deficiency of, 1 22
629 c FML324 Familial Porphyria Cutanea Tarda 22
630 c ALZ016 Alzheimer Disease 8 22
631 c ALZ057 Alzheimer Disease 10 21
632 c ALZ053 Alzheimer Disease 7 21
633 EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 21
634 c PRV018 Periventricular Nodular Heterotopia 7 21
635 FML293 Familial Isolated Restrictive Cardiomyopathy 21
636 c THY063 Thyroid Dyshormonogenesis 4 20
637 c THY056 Thyroid Dyshormonogenesis 3 20
638 c ALZ012 Alzheimer Disease 12 20
639 c SYS038 Systemic Lupus Erythematosus 2 19
640 c FBR073 Febrile Seizures, Familial, 1 19
641 EPL113 Epilepsy, Familial Temporal Lobe, 4 19
642 c WLM005 Wilms Tumor 2 19
643 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 19
644 ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 18
645 c THY062 Thyroid Dyshormonogenesis 5 18
646 c PRV016 Periventricular Nodular Heterotopia 6 18
647 c THY110 Thyroid Dyshormonogenesis 6 18
648 P FML340 Familial Episodic Pain Syndrome 18
649 c WLM017 Wilms Tumor 4 17
650 c HYP519 Hyperekplexia 3 17
651 MGR036 Migraine with or Without Aura 2 17
652 ANG063 Angiolipomatosis, Familial 17
653 c SYS069 Systemic Lupus Erythematosus 6 17
654 c HYP510 Hyperekplexia 2 17
655 FML325 Familial Cervical Artery Dissection 17
656 c VSC025 Vesicoureteral Reflux 3 16
657 c SYS040 Systemic Lupus Erythematosus 10 16
658 ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 16
659 c VSC046 Vesicoureteral Reflux 8 16
660 c WLM015 Wilms Tumor 3 16
661 c OTS010 Otosclerosis 7 15
662 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 15
663 c SYS053 Systemic Lupus Erythematosus 5 15
664 c SYS041 Systemic Lupus Erythematosus 9 15
665 c FBR075 Febrile Seizures, Familial, 2 15
666 HRD084 Hereditary Cerebral Amyloid Angiopathy 15
667 c ACQ004 Acquired Hemangioma 15
668 LPR019 Lipe-Related Familial Partial Lipodystrophy 15
669 c OTS012 Otosclerosis 10 15
670 c OTS007 Otosclerosis 3 14
671 c MYG006 Myoglobinuria, Autosomal Dominant 14
672 c FBR074 Febrile Seizures, Familial, 6 14
673 c SYS046 Systemic Lupus Erythematosus 3 14
674 c SYS065 Systemic Lupus Erythematosus 11 14
675 c FBR071 Febrile Seizures, Familial, 5 14
676 c VSC020 Vesicoureteral Reflux 2 14
677 c SYS055 Systemic Lupus Erythematosus 12 14
678 c OTS011 Otosclerosis 8 14
679 c MLG144 Malignant Hemangioma 13
680 c SPR097 Sporadic Hyperekplexia 13
681 c MLT164 Multiple Endocrine Neoplasia Type 1 and Type 2 13
682 c SYS051 Systemic Lupus Erythematosus 4 13
683 c OTS008 Otosclerosis 4 13
684 ERY057 Erythema Nodosum, Familial 13
685 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 13
686 DGH001 Doughnut Lesions of Skull, Familial 13
687 c VRL025 Viral Myositis 13
688 c BCT018 Bacterial Myositis 13
689 c OTS009 Otosclerosis 5 12
690 c PLM044 Pulmonary Fibrosis, Familial 12
691 c SYS045 Systemic Lupus Erythematosus 14 11
692 c SYS052 Systemic Lupus Erythematosus 13 11
693 c SYS048 Systemic Lupus Erythematosus 8 11
694 c SYS047 Systemic Lupus Erythematosus 7 11
695 c SYS067 Systemic Lupus Erythematosus 15 11
696 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 11
697 c ART151 Aortic Aneurysm, Familial Abdominal, 2 11
698 EPL124 Epilepsy, Familial Temporal Lobe, 6 11
699 NGY001 Nguyen Syndrome 10
700 IMM016 Immune Deficiency, Familial Variable 10
701 c ADV008 Advanced Sleep Phase Syndrome 2 10
702 c OTS006 Otosclerosis 2 10
703 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 10
704 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 10
705 c VSC041 Vesicoureteral Reflux 7 10
706 c VSC043 Vesicoureteral Reflux 6 10
707 c VSC042 Vesicoureteral Reflux 5 10
708 c VSC040 Vesicoureteral Reflux 4 10
709 CMD004 Comedones, Familial Dyskeratotic 10
710 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 10
711 c FBR068 Febrile Seizures, Familial, 10 9
712 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 9
713 AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 8
714 RNR002 Ren-Related Kidney Disease 8
715 c OTS004 Otosclerosis, Familial 8
716 c KDN012 Kidney Carcinoma in Situ 7
717 c FML158 Familial Hemangioma 5
718 c RNL033 Renal Carcinoma, Familial 5
719 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
720 c LCL003 Localized Pulmonary Fibrosis 5
721 c OVR071 Ovarian Insufficiency, Familial 5
722 c MYG002 Myoglobinuria Dominant Form 3
723 c SZR003 Seizures Benign Familial Neonatal Recessive Form 3
724 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
725 FML082 Familial Partial Paralysis 3
726 ANT031 Anterior Pituitary Insufficiency, Familial 3
727 HYP197 Hypofibrinogenemia, Familial 3
728 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
729 NPH022 Nephropathy Familial with Hyperuricemia 3
730 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
731 EPL014 Epilepsy, Partial, Familial 2
732 DST014 Distal Primary Acidosis, Familial 2
733 RGH002 Right Atrium Familial Dilatation 2
734 PLM063 Pulmonary Hypoplasia Familial Primary 2
735 PLM055 Pulmonary Artery Familial Dilatation 2
736 NSL012 Nasal Polyposis, Familial 2
737 HYP177 Hypertensive Hypokalemia Familial 2
738 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 2
739 P HYP750 Hypertriglyceridemia, Familial 55
740 ACT164 Actinic Prurigo 49
741 c HYP555 Hypertriglyceridemia, Transient Infantile 34
742 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
743 c ATR068 Atrial Fibrillation, Familial, 14 17
744 c EPL192 Epilepsy, Familial Focal, with Variable Foci 3 16
745 c EPS027 Episodic Pain Syndrome, Familial, 2 16
746 c EPL187 Epilepsy, Familial Focal, with Variable Foci 2 16
747 c FML270 Familial Cold Autoinflammatory Syndrome 4 16
748 c ATR072 Atrial Fibrillation, Familial, 13 16
749 c ATR069 Atrial Fibrillation, Familial, 12 15
750 c ATR059 Atrial Fibrillation, Familial, 11 15
751 c ERY032 Erythrocytosis, Familial, 4 14
752 P BRG001 Brugada Syndrome 61
753 P GLL022 Guillain-Barre Syndrome 61
754 FML091 Familial Tumoral Calcinosis 46
755 P ACQ022 Acquired Generalized Lipodystrophy 45
756 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 36
757 c BRG005 Brugada Syndrome 1 35
758 c BRG007 Brugada Syndrome 5 33
759 P VRT013 Vertigo, Benign Recurrent 31
760 ATS009 Autosomal Genetic Disease 31
761 LCR013 Lacrimal Duct Defect 31
762 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 29
763 PPL052 Papillomatosis, Confluent and Reticulated 26
764 c BRG006 Brugada Syndrome 2 25
765 c GLL037 Guillain-Barre Syndrome, Familial 25
766 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
767 c ART134 Aortic Aneurysm, Familial Thoracic 10 21
768 c ART118 Aortic Aneurysm, Familial Thoracic 9 19
769 c BRG009 Brugada Syndrome 7 18
770 c ATR061 Atrial Fibrillation, Familial, 10 18
771 c ATR092 Atrial Fibrillation, Familial, 15 17
772 c ATR037 Atrial Fibrillation, Familial, 7 17
773 c BRG012 Brugada Syndrome 9 17
774 c BRG003 Brugada Syndrome 3 17
775 c BRG008 Brugada Syndrome 6 17
776 c CND031 Candidiasis, Familial, 9 17
777 c ATR085 Atrial Fibrillation, Familial, 18 16
778 c BRG010 Brugada Syndrome 8 16
779 c ATR038 Atrial Fibrillation, Familial, 3 16
780 c ART107 Aortic Aneurysm, Familial Thoracic 8 16
781 c ATR035 Atrial Fibrillation, Familial, 6 16
782 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
783 c BRG004 Brugada Syndrome 4 16
784 c ERY031 Erythrocytosis, Familial, 3 15
785 c ATR070 Atrial Fibrillation, Familial, 9 15
786 CRR016 Cirrhosis, Familial 14
787 c ATR039 Atrial Fibrillation, Familial, 4 14
788 GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 13
789 c XNC002 X Inactivation, Familial Skewed, 2 9
790 c VRT008 Vertigo, Benign Recurrent, 2 7
791 c FML226 Familial Dupuytren Contracture 3
792 P CLR023 Colorectal Cancer 98
793 c HYP595 Hypertension, Essential 78
794 P RTN024 Retinoblastoma 76
795 P MYL005 Myelofibrosis 75
796 P CRN037 Craniosynostosis 68
797 OVR029 Ovarian Hyperstimulation Syndrome 64
798 P LNG028 Long Qt Syndrome 63
799 P DYS154 Dystonia 61
800 c LNG044 Long Qt Syndrome 1 61
801 c THR092 Thrombophilia Due to Thrombin Defect 61
802 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
803 P HYP083 Hypopituitarism 59
804 P LCH002 Lichen Planus 58
805 P THR015 Thrombophilia 58
806 P ACT008 Actinic Keratosis 56
807 P SHR029 Short Syndrome 54
808 HMZ003 Homozygous Familial Hypercholesterolemia 54
809 TTH002 Tooth Agenesis 54
810 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53
811 P OBS001 Obstructive Jaundice 53
812 P LFT003 Left Ventricular Noncompaction 52
813 HYP732 Hyperalphalipoproteinemia 1 52
814 P DPY001 Dupuytren Contracture 52
815 c LNG047 Long Qt Syndrome 2 49
816 P SYR001 Syringomyelia 49
817 c MLG069 Malignant Hypertension 49
818 P KRT005 Keratoacanthoma 49
819 P RNL017 Renal Oncocytoma 49
820 P CLS010 Cluster Headache 47
821 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
822 c THR082 Thrombophilia Due to Activated Protein C Resistance 47
823 c LNG048 Long Qt Syndrome 3 46
824 VTM027 Vitamin D-Dependent Rickets, Type 2a 46
825 c CHL140 Chilblain Lupus 1 46
826 MCL027 Macular Dystrophy, Dominant Cystoid 45
827 c LNG050 Long Qt Syndrome 5 43
828 c FML191 Familial Long Qt Syndrome 43
829 c SHR030 Short Qt Syndrome 42
830 P BND018 Band Heterotopia 42
831 c LNG051 Long Qt Syndrome 6 42
832 BRR012 Berardinelli-Seip Congenital Lipodystrophy 42
833 c CRN278 Craniosynostosis 1 41
834 P HMF004 Hemifacial Spasm 41
835 P ORF002 Orofacial Cleft 41
836 c DYS146 Dystonia 24 40
837 P HYP120 Hypoaldosteronism 40
838 c LNG053 Long Qt Syndrome 9 40
839 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
840 c LNG057 Long Qt Syndrome 13 39
841 BNG009 Benign Epilepsy with Centrotemporal Spikes 39
842 MLT002 Multiple Symmetrical Lipomatosis 39
843 c LNG096 Long Qt Syndrome 15 38
844 P GST100 Gastric Neuroendocrine Tumor 38
845 c ERL006 Early-Onset Familial Alzheimer Disease 38
846 c MNS014 Monosomy 22 37
847 P GLM006 Glomangioma 37
848 c ANT071 Anterior Segment Dysgenesis 4 37
849 P HRD086 Hereditary Hypophosphatemic Rickets 36
850 PDT014 Pediatric Ependymoma 36
851 c LNG056 Long Qt Syndrome 12 36
852 SPN354 Spinal Arachnoiditis 35
853 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 35
854 P FML187 Familial Hypertension 35
855 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 35
856 c CRN277 Craniosynostosis 2 35
857 P ANT086 Anterior Segment Dysgenesis 2 34
858 c FML294 Familial Short Qt Syndrome 34
859 NND010 Nondisjunction 33
860 c SPR083 Sporadic Hemiplegic Migraine 33
861 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 33
862 c FML008 Familial Retinoblastoma 33
863 c CLR085 Colorectal Cancer 1 32
864 c DYS119 Dystonia 9 32
865 c FML311 Familial Colorectal Cancer Type X 32
866 c PRN053 Porencephaly 1 30
867 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 30
868 FML264 Familial Bicuspid Aortic Valve 30
869 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 30
870 SHR108 Short Stature, Idiopathic, X-Linked 29
871 c HRD198 Hereditary Dystonia 28
872 c MDL008 Medullary Cystic Kidney Disease 1 28
873 P CRY006 Cryofibrinogenemia 28
874 c MLG039 Malignant Essential Hypertension 28
875 P INT080 Intraocular Melanoma 28
876 c FML306 Familial or Sporadic Hemiplegic Migraine 27
877 c DYS162 Dystonia, Juvenile-Onset 27
878 c BNG021 Benign Essential Hypertension 27
879 c LFT021 Left Ventricular Noncompaction 1 27
880 c ANT084 Anterior Segment Dysgenesis 3 27
881 c LNG098 Long Qt Syndrome 14 26
882 IDP085 Idiopathic Infantile Hypercalcemia 26
883 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
884 c CRN281 Craniosynostosis 7 25
885 c DYS059 Dystonia 16 25
886 c CRN217 Craniosynostosis 3 25
887 c MLG080 Malignant Secondary Hypertension 24
888 FML292 Familial Drusen 24
889 c CLR077 Colorectal Cancer 10 24
890 c CRN221 Craniosynostosis 4 24
891 c ANT083 Anterior Segment Dysgenesis 7 24
892 c ANT085 Anterior Segment Dysgenesis 5 24
893 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 24
894 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 24
895 LRY046 Laryngeal Web, Familial 24
896 DRM041 Dermoid Cysts, Familial Frontonasal 23
897 c MNS008 Monosomy 21 23
898 P FML305 Familial Abdominal Aortic Aneurysm 23
899 c DYS145 Dystonia 23 22
900 c SHR032 Short Qt Syndrome 2 22
901 P MDL021 Medullary Cystic Kidney Disease 2 22
902 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
903 c SCN048 Secondary Syringomyelia 22
904 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 22
905 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
906 P MNS011 Monosomy 9q22.3 21
907 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 21
908 FML280 Familial Rhabdoid Tumor 21
909 c SHR031 Short Qt Syndrome 1 21
910 c CRN256 Craniosynostosis 6 21
911 P CNG070 Congenital Dislocation of the Patella 21
912 P ACT232 Acute Necrotizing Encephalopathy 21
913 PRT112 Portal Hypertension, Noncirrhotic 21
914 c LFT017 Left Ventricular Noncompaction 8 21
915 c DYS151 Dystonia 25 21
916 P FML337 Familial Chilblain Lupus 21
917 c DYS172 Dystonia 27 21
918 c CLR075 Colorectal Cancer 3 20
919 c DYS138 Dystonia 21 20
920 c CLR079 Colorectal Cancer 2 20
921 PTR030 Pterygium of Conjunctiva and Cornea 20
922 c GNS004 Geniospasm 1 20
923 c CLR080 Colorectal Cancer 5 19
924 c HYP376 Hypouricemia, Renal, 2 19
925 c SHR033 Short Qt Syndrome 3 19
926 c CLR087 Colorectal Cancer 12 19
927 c ORF027 Orofacial Cleft 11 19
928 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
929 c ATR026 Atrial Fibrillation, Familial, 1 19
930 c ALZ058 Alzheimer Disease 11 19
931 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 19
932 c ORF048 Orofacial Cleft 1 18
933 FXL001 Foix-Alajouanine Syndrome 18
934 c LFT018 Left Ventricular Noncompaction 10 18
935 c ANT087 Anterior Segment Dysgenesis 6 18
936 c ANT067 Anterior Segment Dysgenesis 8 18
937 c ORF049 Orofacial Cleft 3 18
938 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
939 c FML223 Familial Keratoacanthoma 18
940 c ORF047 Orofacial Cleft 15 18
941 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 18
942 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 18
943 c LNG046 Long Qt Syndrome 11 18
944 c FML268 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 18
945 c ORF050 Orofacial Cleft 2 17
946 c FML028 Familial Renal Oncocytoma 17
947 c CRN216 Craniosynostosis 5 17
948 c HMF011 Hemifacial Spasm, Familial 17
949 ZNC006 Zinc, Elevated Plasma 17
950 c FML267 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 17
951 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 16
952 c ORF031 Orofacial Cleft 14 16
953 c THR023 Thrombophilia Due to Thrombomodulin Defect 16
954 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 16
955 c CHL114 Chilblain Lupus 2 16
956 c LFT020 Left Ventricular Noncompaction 7 16
957 CRT064 Corticosterone Methyloxidase Deficiency 16
958 c ORF014 Orofacial Cleft 5 16
959 c ORF025 Orofacial Cleft 6 16
960 c CLS053 Cluster Headache, Familial 15
961 MGR033 Migraine with or Without Aura 6 15
962 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
963 c ALZ002 Alzheimer Disease Type 1 15
964 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 15
965 c ANR027 Aneurysm, Intracranial Berry, 1 15
966 c ATR027 Atrial Fibrillation, Familial, 5 14
967 c ORF028 Orofacial Cleft 10 14
968 c ORF020 Orofacial Cleft 12 14
969 c CLR083 Colorectal Cancer 8 14
970 c ACT229 Acute Necrotizing Encephalopathy Type 1 14
971 c ORF023 Orofacial Cleft 4 13
972 PRP095 Priapism, Familial Idiopathic 13
973 c ATR025 Atrial Fibrillation, Familial, 2 13
974 c ART068 Aortic Aneurysm, Familial Thoracic 2 13
975 c CLR082 Colorectal Cancer 7 13
976 c CLR081 Colorectal Cancer 6 13
977 c FML275 Familial Hypoaldosteronism 13
978 P SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 13
979 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
980 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 13
981 c ATR028 Atrial Fibrillation, Familial, 8 12
982 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 12
983 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 12
984 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 12
985 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
986 c LCH017 Lichen Planus, Familial 12
987 FML202 Familial Alzheimer-Like Prion Disease 12
988 c ORF029 Orofacial Cleft 13 12
989 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 12
990 c FML230 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 11
991 c HYP452 Hypertension, Essential 6 11
992 c CLR078 Colorectal Cancer 11 11
993 c CLR084 Colorectal Cancer 9 11
994 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
995 c ORF024 Orofacial Cleft 9 11
996 P HRD194 Hereditary Geniospasm 11
997 c KRT070 Keratosis, Familial Actinic 11
998 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 11
999 c HYP450 Hypertension, Essential 4 11
1000 c HYP449 Hypertension, Essential 3 11
1001 c FML258 Familial Acute Necrotizing Encephalopathy 11
1002 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
1003 c FML025 Familial Glomangioma 11
1004 P CHR636 Chorea, Benign Familial 11
1005 FML079 Familial Nasal Acilia 11
1006 c HYP451 Hypertension, Essential 5 11
1007 CHR631 Choreoathetosis, Familial Inverted 11
1008 c LFT011 Left Ventricular Noncompaction 2 10
1009 CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 10
1010 OPH016 Ophthalmoplegia, Familial Static 10
1011 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 10
1012 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
1013 EDM003 Edema, Familial Idiopathic, Prepubertal 10
1014 c HYP454 Hypertension, Essential 8 10
1015 c HYP453 Hypertension, Essential 7 10
1016 c HYP448 Hypertension, Essential 2 10
1017 c HYP447 Hypertension, Essential 1 10
1018 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 10
1019 CRD227 Cardiac Lipidosis, Familial 10
1020 c PTL011 Patella, Familial Recurrent Dislocation of 10
1021 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
1022 c CRY033 Cryofibrinogenemia, Familial Primary 10
1023 c PRM168 Primary Syringomyelia 10
1024 c FML255 Familial Syringomyelia 10
1025 c MRL006 Meralgia Paraesthetica, Familial 9
1026 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
1027 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 9
1028 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1029 HST021 Histiocytosis, Familial Lipochrome 9
1030 CNC019 Cancer, Familial, with in Vitro Radioresistance 9
1031 ALP096 Alopecia, Familial Focal 9
1032 c JND003 Jaundice, Familial Obstructive, of Infancy 9
1033 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
1034 LGL002 Leg Ulcers, Familial, of Juvenile Onset 9
1035 FML336 Familial Patent Arterial Duct 9
1036 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 8
1037 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
1038 c FML072 Familial Hypopituitarism 8
1039 LMB070 Lumbar Stenosis, Familial 8
1040 MSC143 Muscle Cramps, Familial 8
1041 c MLN068 Melanoma, Malignant Familial Intraocular 8
1042 c STT039 Stuttering, Familial Persistent, 4 8
1043 P STT036 Stuttering, Familial Persistent, 3 8
1044 NSL026 Nasal Hyperpigmentation, Familial Transverse 8
1045 MCR339 Macrocytosis, Familial 7
1046 STT047 Setting-Sun Phenomenon, Familial Benign 7
1047 STR098 Striae Distensae, Familial 7
1048 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
1049 NSL025 Nasal Groove, Familial Transverse 7
1050 AZT005 Azotemia, Familial 7
1051 URT053 Urticaria, Familial Localized Heat 7
1052 CRM011 Cramps, Familial Adolescent 7
1053 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 7
1054 FVR001 Fever, Familial Lifelong Persistent 7
1055 BRD052 Broad Terminal Phalanges, Familial 7
1056 c BNG034 Benign Secondary Hypertension 7
1057 c FML078 Familial Myelofibrosis 7
1058 XLN202 X-Linked Acrogigantism Due to a Point Mutation 7
1059 CRY034 Cryptotia, Familial 7
1060 INS028 Insulin Receptors, Familial Increase in 7
1061 BND019 Bundle Branch Block, Familial Isolated Complete Right 7
1062 APR002 Aip-Related Familial Isolated Pituitary Adenomas 7
1063 PCH021 Pachydermodactyly, Familial 6
1064 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 6
1065 MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 6
1066 PNC125 Pancreatic Lymphoma, Familial 6
1067 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 6
1068 c RRL001 Rare Lichen Planus 5
1069 P SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
1070 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 5
1071 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 5
1072 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1073 OST166 Osteoma of Cranial Vault, Familial 5
1074 c CRN093 Craniosynostosis Autosomal Dominant 5
1075 c FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1076 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 5
1077 FML216 Familial Isolated Clinodactyly of Fingers 4
1078 P SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
1079 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
1080 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
1081 BRC118 Brachial Palsy, Familial Congenital 4
1082 BLN022 Blue Nevi, Familial Multiple 4
1083 c FML317 Familial Monosomy 7 Syndrome 4
1084 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
1085 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
1086 c FML049 Familial Band Heterotopia 3
1087 FML074 Familial Interstitial Fibrosis 2
1088 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 2
1089 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89
1090 STR067 Stroke, Ischemic 84
1091 P RTN008 Retinitis Pigmentosa 81
1092 P MYC007 Myocardial Infarction 81
1093 P HRT032 Heart Disease 80
1094 P PLM037 Pulmonary Hypertension 79
1095 P INF038 Influenza 77
1096 P HPT021 Hepatitis 75
1097 KPS004 Kaposi Sarcoma 73
1098 c HPT073 Hepatitis C Virus 73
1099 c HPT001 Hepatitis C 73
1100 P GRF003 Graft-Versus-Host Disease 72
1101 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1102 P AGM001 Agammaglobulinemia 70
1103 P ATS364 Autism 70
1104 P DMN001 Diamond-Blackfan Anemia 70
1105 P DBT085 Diabetes Mellitus, Insulin-Dependent 69
1106 P CRN018 Coronary Artery Anomaly 69
1107 c HPT016 Hepatitis B 68
1108 P DYS007 Dyskeratosis Congenita 68
1109 c PRM196 Premature Ovarian Failure 1 68
1110 c ATS007 Autism Spectrum Disorder 68
1111 P HYD006 Hydrocephalus 68
1112 P CHR071 Charcot-Marie-Tooth Disease 67
1113 P ATT013 Attention Deficit-Hyperactivity Disorder 67
1114 P CWD001 Cowden Disease 67
1115 c DNG003 Dengue Disease 66
1116 PSR001 Psoriatic Arthritis 66
1117 P CRN015 Cornelia De Lange Syndrome 65
1118 P PSR002 Psoriasis 65
1119 c CHR417 Chronic Graft Versus Host Disease 65
1120 P LBR001 Leber Congenital Amaurosis 65
1121 P GLL020 Gallbladder Disease 64
1122 P CCK001 Cockayne Syndrome 64
1123 c ACT075 Acute Myocardial Infarction 64
1124 HLC007 Helicobacter Pylori Infection 64
1125 P NRC002 Narcolepsy 64
1126 c DPH024 Diaphragmatic Hernia, Congenital 63
1127 c HPT003 Hepatitis a 63
1128 c ATM011 Autoimmune Hepatitis 63
1129 P HYP055 Hypoplastic Left Heart Syndrome 63
1130 P HRM001 Hermansky-Pudlak Syndrome 62
1131 P CTS001 Cutis Laxa 62
1132 P MTR004 Maturity-Onset Diabetes of the Young 62
1133 VTR013 Vitreoretinopathy, Neovascular Inflammatory 61
1134 P BRD002 Bardet-Biedl Syndrome 61
1135 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1136 P WLF004 Wolfram Syndrome 61
1137 P GLY013 Glycogen Storage Disease 61
1138 P CTR002 Cataract 60
1139 P PLY014 Polycystic Kidney Disease 60
1140 P DRR001 Diarrhea 60
1141 P FCL005 Focal Segmental Glomerulosclerosis 60
1142 c MCP004 Mucopolysaccharidosis Iv 60
1143 c VRL010 Viral Hepatitis 59
1144 c HRD002 Hereditary Angioedema 59
1145 P VNT002 Ventricular Septal Defect 59
1146 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 59
1147 P LPR021 Leprosy 3 59
1148 P USH001 Usher Syndrome 59
1149 P CFF008 Coffin-Siris Syndrome 1 59
1150 c SPN294 Spinocerebellar Ataxia 1 58
1151 c ESS001 Essential Tremor 58
1152 P HYP035 Hypophosphatasia 58
1153 P ACT010 Acth-Secreting Pituitary Adenoma 58
1154 P ENC018 Encephalopathy 58
1155 P STR022 Stargardt Disease 58
1156 c GLC092 Glaucoma, Primary Open Angle 58
1157 P EPL140 Epilepsy, Idiopathic Generalized 58
1158 P HYP097 Hyperekplexia 57
1159 P DST002 Distal Arthrogryposis 57
1160 P WRD001 Waardenburg's Syndrome 57
1161 P MLT007 Multiple Epiphyseal Dysplasia 57
1162 P CRN300 Coronary Heart Disease 1 57
1163 c ACT135 Acute Graft Versus Host Disease 57
1164 P OCL002 Oculocutaneous Albinism 57
1165 HYP810 Hypereosinophilic Syndrome, Idiopathic 57
1166 P PRG013 Paraganglioma 57
1167 P ACH003 Achromatopsia 57
1168 P MCR010 Microcephaly 57
1169 P EPS003 Episodic Ataxia 57
1170 P PRM011 Primary Ciliary Dyskinesia 57
1171 P ANG015 Angioedema 57
1172 P TWN003 Townes-Brocks Syndrome 57
1173 MSC007 Muscle Hypertrophy 57
1174 P BRC006 Brachydactyly 57
1175 c HPT007 Hepatitis E 57
1176 P HYP726 Hypercalcemia, Infantile, 1 57
1177 P ACR001 Aicardi-Goutieres Syndrome 57
1178 P LPR002 Leopard Syndrome 56
1179 P STC001 Stickler Syndrome 56
1180 c MCP001 Mucopolysaccharidosis Iii 56
1181 P CPL006 Capillary Hemangioma 56
1182 P CNG010 Congenital Stationary Night Blindness 56
1183 P ATR001 Atrioventricular Septal Defect 56
1184 c FNC042 Fanconi Anemia, Complementation Group D2 56
1185 P MYP006 Myopia 56
1186 P DNG005 Dengue Virus 56
1187 P SPN301 Spinocerebellar Ataxia 2 56
1188 P CHL002 Childhood Absence Epilepsy 56
1189 EXF001 Exfoliation Syndrome 55
1190 P CNG001 Congenital Myasthenic Syndrome 55
1191 P HRD011 Hereditary Spherocytosis 55
1192 DGR001 Digeorge Syndrome 55
1193 P AGG001 Aggressive Periodontitis 55
1194 P SCK004 Seckel Syndrome 55
1195 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 55
1196 TBC004 Tobacco Addiction 55
1197 P ICH004 Ichthyosis 54
1198 c CLR131 Ciliary Dyskinesia, Primary, 1 54
1199 P SMP003 Simpson-Golabi-Behmel Syndrome 54
1200 P SNR003 Senior-Loken Syndrome 1 54
1201 c INF071 Inflammatory Bowel Disease 1 54
1202 c CWD006 Cowden Syndrome 1 54
1203 P TRM003 Tremor 54
1204 P THY054 Thyrotoxic Periodic Paralysis 54
1205 P CNT004 Centronuclear Myopathy 54
1206 FND001 Fundus Albipunctatus 54
1207 c PLY145 Polycystic Kidney Disease 1 54
1208 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53
1209 c SPH013 Spherocytosis, Type 1 53
1210 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53
1211 P AXN002 Axenfeld-Rieger Syndrome 53
1212 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1213 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53
1214 P CRD132 Cardiac Conduction Defect 53
1215 c GNG001 Gangliosidosis Gm1 52
1216 c CNT075 Central Precocious Puberty 52
1217 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 52
1218 c CCK007 Cockayne Syndrome B 52
1219 P INF037 Inflammatory Bowel Disease 52
1220 c HPT015 Hepatitis D 52
1221 c SCN036 Secondary Progressive Multiple Sclerosis 52
1222 c SPN291 Spinocerebellar Ataxia 7 52
1223 P ADM011 Adams-Oliver Syndrome 52
1224 P FNC043 Fanconi Anemia, Complementation Group E 52
1225 P PRC019 Precocious Puberty 52
1226 c FRS014 Fraser Syndrome 1 51
1227 c STR084 Stargardt Disease 1 51
1228 P PRX021 Proximal Symphalangism 51
1229 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
1230 LG4001 Lig4 Syndrome 51
1231 P OPN001 Open-Angle Glaucoma 51
1232 c ERL020 Early-Onset Schizophrenia 51
1233 ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 51
1234 c ART115 Aortic Valve Disease 1 51
1235 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51
1236 PRT082 Preterm Premature Rupture of the Membranes 51
1237 c NGH026 Night Blindness, Congenital Stationary, Type 1a 51
1238 P HRP009 Herpes Simplex Encephalitis 50
1239 DBT084 Diabetes Mellitus, Ketosis-Prone 50
1240 FCT001 Factor Viii Deficiency 50
1241 c DWL002 Dowling-Degos Disease 1 50
1242 P APL006 Aplasia Cutis Congenita 50
1243 c PRM108 Primary Progressive Multiple Sclerosis 50
1244 P WLL002 Weill-Marchesani Syndrome 50
1245 c RTN162 Retinitis Pigmentosa 2 50
1246 P PRS049 Persistent Mullerian Duct Syndrome 50
1247 P FBR025 Fibrochondrogenesis 50
1248 P MYM013 Moyamoya Disease 1 50
1249 P GNG025 Gingival Fibromatosis 50
1250 P INF049 Infantile Myofibromatosis 49
1251 ALL001 Allan-Herndon-Dudley Syndrome 49
1252 P PRK001 Porokeratosis 49
1253 c PRD039 Periodontitis, Aggressive, 1 49
1254 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1255 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1256 c PLY060 Polycystic Kidney Disease 2 49
1257 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1258 P LSS002 Lissencephaly 49
1259 P KRT007 Keratoconus 49
1260 c SPL024 Split-Hand/foot Malformation 3 49
1261 P ALT001 Alternating Hemiplegia of Childhood 48
1262 c CCK008 Cockayne Syndrome a 48
1263 P NNT009 Neonatal Diabetes Mellitus 48
1264 c HYP740 Hyperlipoproteinemia, Type V 48
1265 c HYP293 Hypophosphatasia, Adult 48
1266 c HYP292 Hypophosphatasia, Infantile 48
1267 P PRM001 Primary Cutaneous Amyloidosis 48
1268 P BRS053 Breast Fibroadenoma 48
1269 c ANG068 Angioedema, Hereditary, Type I 48
1270 c DMN023 Diamond-Blackfan Anemia 1 48
1271 P LCT002 Lactose Intolerance 48
1272 P HYP087 Hypotrichosis 48
1273 c LBR014 Leber Congenital Amaurosis 4 48
1274 P RBN002 Robinow Syndrome 48
1275 P CRN013 Craniodiaphyseal Dysplasia 48
1276 EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 47
1277 c LBR012 Leber Congenital Amaurosis 2 47
1278 P NML001 Nemaline Myopathy 47
1279 DRR008 Diarrhea 1, Secretory Chloride, Congenital 47
1280 c PCH012 Pachyonychia Congenita 2 47
1281 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
1282 c SPN293 Spinocerebellar Ataxia 12 47
1283 P MSC022 Mosaic Variegated Aneuploidy Syndrome 47
1284 TRN022 Transcobalamin Ii Deficiency 47
1285 VNW005 Von Willebrand Disease, Type 1 47
1286 SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
1287 c OPT051 Opitz Gbbb Syndrome, Type I 47
1288 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
1289 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47
1290 c CLD010 Cold-Induced Sweating Syndrome 1 47
1291 P NLD001 Nail Disease 47
1292 P OCL001 Ocular Albinism 46
1293 c SPN296 Spinocerebellar Ataxia 17 46
1294 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 46
1295 NTR018 Neutrophilia, Hereditary 46
1296 c USH021 Usher Syndrome, Type Iid 46
1297 P MTH007 Methemoglobinemia 46
1298 c LTH008 Lethal Congenital Contracture Syndrome 2 46
1299 c WRD020 Waardenburg Syndrome, Type 4a 46
1300 ACD008 Acid-Labile Subunit Deficiency 46
1301 CLP005 Ciliopathy 46
1302 P SCL048 Sclerosteosis 46
1303 c BRD044 Bardet-Biedl Syndrome 17 46
1304 P MLT072 Multiple Synostoses Syndrome 46
1305 c SPN314 Spinocerebellar Ataxia 10 46
1306 c LFR007 Li-Fraumeni Syndrome 2 46
1307 c PSD106 Pseudo-Torch Syndrome 1 46
1308 P AML002 Amelogenesis Imperfecta 46
1309 c CRN139 Cornelia De Lange Syndrome 1 46
1310 P KLP003 Klippel-Feil Syndrome 46
1311 ENH001 Enhanced S-Cone Syndrome 46
1312 P VSC013 Visceral Heterotaxy 45
1313 P PTN014 Patent Ductus Arteriosus 1 45
1314 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
1315 VNW010 Von Willebrand Disease, Type 2 45
1316 c USH035 Usher Syndrome Type 2 45
1317 P FNC044 Fanconi Anemia, Complementation Group C 45
1318 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 45
1319 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 45
1320 MCR165 Microphthalmia with Limb Anomalies 45
1321 P ANL018 Analbuminemia 45
1322 c SCH079 Schizophrenia 1 45
1323 P GLL032 Galloway-Mowat Syndrome 45
1324 c ACQ012 Acquired Angioedema 45
1325 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 45
1326 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
1327 c ANT077 Anterior Segment Dysgenesis 1 45
1328 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 44
1329 c MCP047 Mucopolysaccharidosis, Type Iva 44
1330 c ALB024 Albinism, Ocular, Type I 44
1331 NRL018 Neural Tube Defects, Folate-Sensitive 44
1332 c LKD015 Leukodystrophy, Hypomyelinating, 3 44
1333 P PRV002 Periventricular Nodular Heterotopia 44
1334 P MYT023 Myotonia Congenita 44
1335 P DNR001 Duane Retraction Syndrome 44
1336 CHN056 Chondrosarcoma, Extraskeletal Myxoid 44
1337 c BRD020 Bardet-Biedl Syndrome 8 44
1338 WRS002 Warsaw Breakage Syndrome 44
1339 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 44
1340 MRG013 Mirage Syndrome 44
1341 P MYF003 Myofibrillar Myopathy 44
1342 LPP002 Lipoprotein Glomerulopathy 44
1343 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1344 HRT030 Hartsfield Syndrome 43
1345 ASP005 Asphyxiating Thoracic Dystrophy 43
1346 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43
1347 TMR010 Tumor Predisposition Syndrome 43
1348 c SPN305 Spinocerebellar Ataxia 11 43
1349 P DWL001 Dowling-Degos Disease 43
1350 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43
1351 c ATS275 Autosomal Recessive Primary Microcephaly 43
1352 P SDR003 Sideroblastic Anemia 43
1353 c ATS082 Autosomal Dominant Robinow Syndrome 43
1354 c LKD010 Leukodystrophy, Hypomyelinating, 2 43
1355 P INF016 Infantile Epileptic Encephalopathy 43
1356 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 43
1357 c HMC009 Hemochromatosis Type 2 43
1358 VNW008 Von Willebrand Disease, Type 3 43
1359 P FRN012 Frontometaphyseal Dysplasia 43
1360 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 42
1361 c PTT057 Pituitary Adenoma 4, Acth-Secreting 42
1362 c BRD048 Bardet-Biedl Syndrome 18 42
1363 P DYS023 Dyschromatosis Universalis Hereditaria 42
1364 P JVN007 Juvenile Absence Epilepsy 42
1365 RST023 Resting Heart Rate, Variation in 42
1366 SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 42
1367 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
1368 c PLY141 Polycystic Kidney Disease 5 42
1369 P ART018 Aortic Valve Insufficiency 42
1370 P SYN012 Synpolydactyly 42
1371 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
1372 c WRB002 Warburg Micro Syndrome 1 42
1373 c FNC032 Fanconi Anemia, Complementation Group B 42
1374 IND012 Indifference to Pain, Congenital, Autosomal Recessive 42
1375 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
1376 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42
1377 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
1378 P CNG003 Congenital Dyserythropoietic Anemia 42
1379 c NNN010 Noonan Syndrome 3 42
1380 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 42
1381 c RBN009 Robinow Syndrome, Autosomal Recessive 42
1382 c LBR019 Leber Congenital Amaurosis 9 41
1383 c RTN043 Retinitis Pigmentosa 13 41
1384 c LBR004 Leber Congenital Amaurosis 1 41
1385 c CTR130 Cataract 9, Multiple Types 41
1386 ART002 Arts Syndrome 41
1387 c BRD033 Bardet-Biedl Syndrome 13 41
1388 c USH039 Usher Syndrome, Type Ic 41
1389 P HRD012 Hereditary Elliptocytosis 41
1390 P VTL001 Vitelliform Macular Dystrophy 41
1391 P OPT048 Opitz-Gbbb Syndrome 41
1392 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
1393 c MCL066 Macular Dystrophy, Vitelliform, 2 41
1394 c USH020 Usher Syndrome, Type Iic 41
1395 PRP056 Porphyria, Acute Hepatic 41
1396 c USH040 Usher Syndrome, Type Id 41
1397 P EPL116 Epileptic Encephalopathy, Childhood-Onset 41
1398 c SPH015 Spherocytosis, Type 3 41
1399 c SPN330 Spondylocostal Dysostosis 5 41
1400 RBF001 Riboflavin Deficiency 41
1401 c SPL034 Split-Hand/foot Malformation 4 41
1402 CRN241 Corneal Dystrophy, Congenital Stromal 41
1403 P JVN008 Juvenile Glaucoma 41
1404 c PRK082 Porokeratosis 1, Multiple Types 41
1405 P PNT019 Pontocerebellar Hypoplasia 41
1406 c MCR263 Microphthalmia, Syndromic 1 41
1407 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
1408 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
1409 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 41
1410 P PRC031 Preeclampsia/eclampsia 1 41
1411 c SPN265 Spinocerebellar Ataxia 36 41
1412 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41
1413 P SPL061 Split Hand-Foot Malformation 41
1414 c ACT004 Acute Diarrhea 41
1415 c SPH014 Spherocytosis, Type 2 41
1416 c SPN103 Spinocerebellar Ataxia 31 40
1417 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40
1418 c 3MT014 3-Methylglutaconic Aciduria, Type V 40
1419 c RTN058 Retinitis Pigmentosa 3 40
1420 EST007 Estrogen Resistance 40
1421 c SPL067 Split-Hand/foot Malformation 1 40
1422 P CHR084 Chromosomal Disease 40
1423 P PST059 Pustular Psoriasis 40
1424 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 40
1425 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
1426 c GLY098 Glycogen Storage Disease, Type Ixd 40
1427 c BRD032 Bardet-Biedl Syndrome 14 40
1428 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
1429 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
1430 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40
1431 ATS010 Autosomal Recessive Disease 40
1432 c CHR637 Choroidal Dystrophy, Central Areolar, 1 40
1433 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
1434 c SCP001 Sc Phocomelia Syndrome 40
1435 CRN285 Corneal Dystrophy, Fleck 40
1436 c PSR017 Psoriasis 2 40
1437 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
1438 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1439 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 40
1440 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 40
1441 c RTN160 Retinitis Pigmentosa 60 40
1442 c AMY069 Amyotrophic Lateral Sclerosis 21 39
1443 GLC084 Glaucoma, Normal Tension 39
1444 P DYS005 Dyslexia 39
1445 c MCL016 Mucolipidosis Iii Gamma 39
1446 MHR001 Mohr-Tranebjaerg Syndrome 39
1447 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1448 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 39
1449 c NNN012 Noonan Syndrome 5 39
1450 c MCR241 Microphthalmia, Syndromic 3 39
1451 c GM2005 Gm2-Gangliosidosis, Ab Variant 39
1452 c SPH016 Spherocytosis, Type 4 39
1453 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1454 c RTN177 Retinitis Pigmentosa 73 39
1455 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 39
1456 c RTN048 Retinitis Pigmentosa 19 39
1457 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 39
1458 ATS008 Autosomal Dominant Disease 39
1459 c GLL024 Gallbladder Disease 1 39
1460 c CTR118 Cataract 14, Multiple Types 39
1461 c PSR018 Psoriasis 13 39
1462 c RTN172 Retinitis Pigmentosa 1 39
1463 P BRN042 Branchiootic Syndrome 39
1464 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1465 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
1466 ATX038 Ataxia and Polyneuropathy, Adult-Onset 38
1467 P UVS001 Uv-Sensitive Syndrome 38
1468 CRB148 Cerebral Creatine Deficiency Syndrome 3 38
1469 c BRD035 Bardet-Biedl Syndrome 15 38
1470 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
1471 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
1472 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
1473 c CTR115 Cataract 16, Multiple Types 38
1474 c RTN143 Retinitis Pigmentosa 47 38
1475 c PCH010 Pachyonychia Congenita 3 38
1476 MYP139 Myopathy, Proximal, and Ophthalmoplegia 38
1477 P 3MT007 3-Methylglutaconic Aciduria 38
1478 c AMY067 Amyotrophic Lateral Sclerosis 18 38
1479 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38
1480 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1481 c PSR023 Psoriasis 1 38
1482 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38
1483 c RTN142 Retinitis Pigmentosa 38 38
1484 VNM003 Van Maldergem Syndrome 1 38
1485 c PLY139 Polycystic Kidney Disease 3 38
1486 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
1487 c ADM005 Adams-Oliver Syndrome 1 38
1488 c RTN069 Retinitis Pigmentosa 7 38
1489 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38
1490 P DXT004 Dextro-Looped Transposition of the Great Arteries 38
1491 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 38
1492 c OPT050 Opitz Gbbb Syndrome, Type Ii 38
1493 c CTR122 Cataract 5, Multiple Types 38
1494 c HYP543 Hypoplastic Left Heart Syndrome 1 38
1495 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
1496 GRN051 Granulomatous Disease, Chronic, X-Linked 38
1497 BTR002 Beta-Ureidopropionase Deficiency 38
1498 GLS018 Glass Syndrome 38
1499 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
1500 c WRB005 Warburg Micro Syndrome 4 37
1501 SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 37
1502 c HMN027 Hemangioma, Capillary Infantile 37
1503 CHR667 Chromosome 3pter-P25 Deletion Syndrome 37
1504 c AML020 Amelogenesis Imperfecta, Type Iv 37
1505 c PSR028 Psoriasis 7 37
1506 WNC001 Winchester Syndrome 37
1507 c RBN017 Robinow Syndrome, Autosomal Dominant 2 37
1508 c SPL070 Split-Hand/foot Malformation 2 37
1509 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 37
1510 c MCR124 Microphthalmia, Isolated 1 37
1511 c GLL038 Galloway-Mowat Syndrome 1 37
1512 c BRC051 Brachydactyly, Type B1 37
1513 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 37
1514 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 37
1515 c HYP507 Hypotrichosis 1 37
1516 P PRT042 Parietal Foramina 37
1517 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
1518 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 37
1519 RTC008 Reticulate Acropigmentation of Kitamura 37
1520 c HNT004 Huntington Disease-Like 2 37
1521 MND025 Mandibulofacial Dysostosis with Alopecia 37
1522 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
1523 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
1524 c USH042 Usher Syndrome, Type Ig 36
1525 P ANX007 Anauxetic Dysplasia 1 36
1526 c MYP078 Myopathy, Myofibrillar, 3 36
1527 GLY032 Glycosylphosphatidylinositol Deficiency 36
1528 c RTN055 Retinitis Pigmentosa 26 36
1529 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
1530 c RTS003 Ritscher-Schinzel Syndrome 1 36
1531 c HMC021 Hemochromatosis, Type 2a 36
1532 c AML017 Amelogenesis Imperfecta, Type Ib 36
1533 c ATS076 Autosomal Recessive Stickler Syndrome 36
1534 c USH041 Usher Syndrome, Type if 36
1535 c CTR170 Cataract 30, Multiple Types 36
1536 c EPS017 Episodic Ataxia, Type 6 36
1537 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
1538 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 36
1539 c SPN304 Spinocerebellar Ataxia 8 36
1540 c SPN094 Spinocerebellar Ataxia 18 36
1541 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
1542 c PRM032 Primary Congenital Glaucoma 36
1543 P HYP111 Hyperprolinemia 36
1544 ATR013 Atrichia with Papular Lesions 36
1545 CMP089 Complement Component 6 Deficiency 36
1546 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
1547 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36
1548 c RTN136 Retinitis Pigmentosa 44 36
1549 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 36
1550 P WLL010 Woolly Hair Syndrome 36
1551 P BRT040 Baraitser-Winter Syndrome 36
1552 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 36
1553 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36
1554 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 36
1555 P KLF001 Kleefstra Syndrome 36
1556 MNC019 Monocarboxylate Transporter 1 Deficiency 35
1557 PLY068 Polysubstance Abuse 35
1558 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 35
1559 c RTN050 Retinitis Pigmentosa 20 35
1560 P GLP001 Geleophysic Dysplasia 35
1561 c MCP051 Mucopolysaccharidosis, Type Ix 35
1562 c FNC045 Fanconi Anemia, Complementation Group F 35
1563 SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1564 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35
1565 c CTR098 Cataract 1, Multiple Types 35
1566 c PNT049 Pontocerebellar Hypoplasia, Type 2d 35
1567 c CRN243 Carney Complex, Type 1 35
1568 P GNG010 Gangliosidosis Gm2 35
1569 c SCL042 Sclerosteosis 2 35
1570 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 35
1571 c SPL033 Split-Hand/foot Malformation 6 35
1572 c LBR007 Leber Congenital Amaurosis 12 35
1573 c SCL045 Sclerosteosis 1 35
1574 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
1575 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1576 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
1577 OHD005 Ohdo Syndrome, Sbbys Variant 35
1578 c HYP581 Hypotrichosis 6 35
1579 CHR387 Chromosome Xp21 Deletion Syndrome 35
1580 CLR133 Colorblindness, Partial, Protan Series 35
1581 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35
1582 LGN006 Legionnaire Disease 35
1583 NNK001 Nonaka Myopathy 35
1584 c PSR032 Psoriasis 11 35
1585 EPT021 Epithelial Recurrent Erosion Dystrophy 35
1586 CHR382 Chromosome 18q Deletion Syndrome 35
1587 c RTN041 Retinitis Pigmentosa 11 35
1588 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 35
1589 c BRD045 Bardet-Biedl Syndrome 19 35
1590 c ATS013 Autosomal Recessive Congenital Ichthyosis 35
1591 OGD001 Ogden Syndrome 35
1592 c AMY088 Amyotrophic Lateral Sclerosis 3 35
1593 OVR093 Overhydrated Hereditary Stomatocytosis 35
1594 P ANT061 Antenatal Bartter Syndrome 35
1595 c HNT011 Huntington Disease-Like 3 35
1596 P SCH077 Schwannomatosis 1 35
1597 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 35
1598 c SPN299 Spinocerebellar Ataxia 20 35
1599 c LBR011 Leber Congenital Amaurosis 16 35
1600 c CNG379 Congenital Disorder of Glycosylation, Type It 34
1601 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 34
1602 HYP110 Hyperproinsulinemia 34
1603 c RTN186 Retinitis Pigmentosa 75 34
1604 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 34
1605 TRM011 Terminal Osseous Dysplasia 34
1606 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34
1607 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34
1608 c APL023 Aplasia Cutis Congenita, Nonsyndromic 34
1609 FRG010 Fragile X Tremor/ataxia Syndrome 34
1610 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 34
1611 SPN331 Spondyloocular Syndrome 34
1612 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
1613 c HYP559 Hypotrichosis 8 34
1614 P BCT020 Bacteremia 2 34
1615 CHR501 Chromosome 17q12 Deletion Syndrome 34
1616 c CTR141 Cataract 21, Multiple Types 34
1617 c GLY023 Glycogen Storage Disease Type 0 34
1618 c DNR003 Duane Retraction Syndrome 1 34
1619 P PRR025 Perrault Syndrome 34
1620 c RTN149 Retinitis Pigmentosa 42 34
1621 c KLF004 Kleefstra Syndrome 1 34
1622 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
1623 P ATS366 Autism X-Linked 2 34
1624 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
1625 c MYP079 Myopathy, Myofibrillar, 5 34
1626 c RTN165 Retinitis Pigmentosa 68 34
1627 c MYT027 Myotonia Congenita, Autosomal Dominant 34
1628 c GLP003 Geleophysic Dysplasia 1 34
1629 c INF086 Inflammatory Bowel Disease 3 34
1630 c RTN150 Retinitis Pigmentosa 10 34
1631 c NML004 Nemaline Myopathy 3 34
1632 c TRC078 Trichohepatoenteric Syndrome 2 34
1633 P OVR075 Ovarian Dysgenesis 1 33
1634 TNP004 Tn Polyagglutination Syndrome 33
1635 c WLF009 Wolfram Syndrome 2 33
1636 BRC004 Brachydactyly-Syndactyly Syndrome 33
1637 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 33
1638 c CTR125 Cataract 7 33
1639 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 33
1640 c CTR174 Cataract 40 33
1641 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
1642 KLL014 Kelley-Seegmiller Syndrome 33
1643 c ACH023 Achromatopsia 4 33
1644 PRM056 Primrose Syndrome 33
1645 OCC002 Occult Macular Dystrophy 33
1646 c RTN090 Retinitis Pigmentosa 55 33
1647 c BRD047 Bardet-Biedl Syndrome 16 33
1648 c GLC083 Glaucoma 3, Primary Infantile, B 33
1649 c FML250 Familial Progressive Cardiac Conduction Defect 33
1650 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 33
1651 c WRB003 Warburg Micro Syndrome 2 33
1652 c WRD010 Waardenburg Syndrome Type 4 33
1653 c RTN131 Retinitis Pigmentosa 27 33
1654 GLY094 Glycine Encephalopathy with Normal Serum Glycine 33
1655 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33
1656 CHR377 Chromosome 10q26 Deletion Syndrome 33
1657 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33
1658 P KNB001 Knobloch Syndrome 33
1659 INF159 Infantile Sialic Acid Storage Disease 33
1660 c LBR009 Leber Congenital Amaurosis 14 33
1661 c RTN042 Retinitis Pigmentosa 12 33
1662 P MTP005 Metaphyseal Anadysplasia 33
1663 CRB081 Cerebellar Ataxia, Cayman Type 33
1664 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
1665 P VTR010 Vitreoretinochoroidopathy 33
1666 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 33
1667 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 33
1668 CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33
1669 c RTN051 Retinitis Pigmentosa 22 33
1670 P MYS032 Myosin Storage Myopathy 32
1671 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32
1672 c RTN133 Retinitis Pigmentosa 43 32
1673 c AML057 Amelogenesis Imperfecta, Type Iiia 32
1674 c KNB006 Knobloch Syndrome 1 32
1675 c RTN210 Retinitis Pigmentosa 50 32
1676 P CLD003 Cold-Induced Sweating Syndrome 32
1677 c FNC028 Fanconi Anemia, Complementation Group L 32
1678 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 32
1679 HYP540 Hypertension, Diastolic 32
1680 c RTN062 Retinitis Pigmentosa 33 32
1681 c AMY059 Amyotrophic Lateral Sclerosis 19 32
1682 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
1683 c ATR062 Atrial Septal Defect 1 32
1684 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
1685 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 32
1686 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1687 c WLL036 Weill-Marchesani Syndrome 1 32
1688 c RTN134 Retinitis Pigmentosa 40 32
1689 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
1690 CYN002 Cyanosis, Transient Neonatal 32
1691 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 32
1692 PLY110 Polymicrogyria, Bilateral Temporooccipital 32
1693 P FNC026 Fanconi Renotubular Syndrome 1 32
1694 c WRD024 Waardenburg Syndrome, Type 4c 32
1695 46X051 46,xy Sex Reversal 1 32
1696 ATN014 Autoinflammation with Arthritis and Dyskeratosis 32
1697 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
1698 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 32
1699 P SPS008 Spastic Ataxia 32
1700 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 32
1701 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 32
1702 P WRB001 Warburg Micro Syndrome 32
1703 c NGH029 Night Blindness, Congenital Stationary, Type 1e 32
1704 SCL056 Sclerosing Cholangitis, Neonatal 32
1705 ALP072 Alpha-Fetoprotein Deficiency 32
1706 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1707 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
1708 CRB147 Cerebellofaciodental Syndrome 32
1709 MST006 Mast Syndrome 32
1710 c SPL025 Split-Hand/foot Malformation 5 32
1711 c NML002 Nemaline Myopathy 1 32
1712 c CTR119 Cataract 32, Multiple Types 32
1713 c NML005 Nemaline Myopathy 4 32
1714 c RTN047 Retinitis Pigmentosa 18 32
1715 c RTN116 Retinitis Pigmentosa 56 32
1716 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
1717 c INF087 Inflammatory Bowel Disease 4 31
1718 c CTR095 Cataract 8, Multiple Types 31
1719 c RTN044 Retinitis Pigmentosa 14 31
1720 c FRN049 Frontometaphyseal Dysplasia 1 31
1721 c PRM038 Primary Agammaglobulinemia 31
1722 CLC008 Colchicine Resistance 31
1723 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31
1724 PRK066 Parkinsonism with Spasticity, X-Linked 31
1725 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
1726 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
1727 c CTR158 Cataract 37 31
1728 c PNT045 Pontocerebellar Hypoplasia, Type 1a 31
1729 c RTN068 Retinitis Pigmentosa 6 31
1730 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
1731 c SPN266 Spinocerebellar Ataxia 35 31
1732 VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 31
1733 GLT019 Glut1 Deficiency Syndrome 2 31
1734 c CTR103 Cataract 4, Multiple Types 31
1735 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
1736 ASP024 Asparagine Synthetase Deficiency 31
1737 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1738 c CTR145 Cataract 44 31
1739 P OTF004 Otofaciocervical Syndrome 1 31
1740 GBT001 Gaba-Transaminase Deficiency 31
1741 c LSS006 Lissencephaly 2 31
1742 c NNS043 Nonsyndromic Retinitis Pigmentosa 31
1743 c LBR005 Leber Congenital Amaurosis 10 31
1744 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 31
1745 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31
1746 ALG027 Al-Gazali-Bakalinova Syndrome 31
1747 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1748 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
1749 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1750 GLM012 Glomuvenous Malformations 31
1751 c EPL133 Epilepsy, Juvenile Absence 1 31
1752 P OCY003 Oocyte Maturation Defect 1 31
1753 c MCR245 Microphthalmia, Syndromic 8 31
1754 c LSS010 Lissencephaly 4 31
1755 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 31
1756 c RTN056 Retinitis Pigmentosa 28 30
1757 TKN001 Takenouchi-Kosaki Syndrome 30
1758 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 30
1759 P SPC019 Specific Language Impairment 30
1760 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
1761 c GLP004 Geleophysic Dysplasia 2 30
1762 ALR002 Al-Raqad Syndrome 30
1763 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1764 PHS022 Phosphoserine Phosphatase Deficiency 30
1765 c SPN105 Spinocerebellar Ataxia 4 30
1766 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
1767 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
1768 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 30
1769 P SNG014 Singleton-Merten Syndrome 30
1770 c HYP515 Hypotrichosis 3 30
1771 c CNG223 Congenital Methemoglobinemia 30
1772 ATM052 Autoimmune Disease 1 30
1773 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 30
1774 c DYS039 Dyskeratosis Congenita Autosomal Dominant 30
1775 OVL001 Ovalocytosis, Southeast Asian 30
1776 MTC060 Mitochondrial Dna Depletion Syndrome 9 30
1777 P HYP700 Hypomyelinating Leukodystrophy 30
1778 c LBR016 Leber Congenital Amaurosis 6 30
1779 c MCR329 Microcephaly, Autosomal Dominant 30
1780 PRK005 Prekallikrein Deficiency 30
1781 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30
1782 c SPN095 Spinocerebellar Ataxia 19 30
1783 c CCK003 Cockayne Syndrome Type Ii 30
1784 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
1785 c RTN171 Retinitis Pigmentosa 59 30
1786 c PCH011 Pachyonychia Congenita 4 30
1787 c SRC023 Sarcoidosis 2 30
1788 c LBR013 Leber Congenital Amaurosis 3 30
1789 c SPH017 Spherocytosis, Type 5 30
1790 c USH031 Usher Syndrome, Type Ij 30
1791 c GLY057 Glycogen Storage Disease X 30
1792 c RTN054 Retinitis Pigmentosa 25 30
1793 BSL037 Basal Laminar Drusen 30
1794 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 30
1795 c HRM020 Hermansky-Pudlak Syndrome 10 30
1796 P BST001 Bestrophinopathy 30
1797 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1798 c WLL037 Weill-Marchesani Syndrome 2 30
1799 c LBR015 Leber Congenital Amaurosis 5 30
1800 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 30
1801 c HMC034 Hemochromatosis, Type 5 30
1802 MYP097 Myopathy with Lactic Acidosis, Hereditary 30
1803 PRP093 Pierpont Syndrome 30
1804 c TRM024 Tremor, Hereditary Essential, 1 30
1805 c ALB019 Albinism, Oculocutaneous, Type Iv 30
1806 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 30
1807 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
1808 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1809 c MYP080 Myopathy, Myofibrillar, 4 30
1810 ACR004 Acrokeratosis Verruciformis 30
1811 c SCK009 Seckel Syndrome 1 30
1812 CRY019 Cryohydrocytosis 29
1813 CRT045 Creatine Phosphokinase, Elevated Serum 29
1814 INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 29
1815 c THY084 Thyrotoxic Periodic Paralysis 1 29
1816 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
1817 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
1818 c EPS037 Episodic Ataxia, Type 4 29
1819 c SYN084 Synpolydactyly 1 29
1820 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 29
1821 c SPN283 Spinocerebellar Ataxia 37 29
1822 c CTR132 Cataract 3, Multiple Types 29
1823 c WRD019 Waardenburg Syndrome, Type 4b 29
1824 c ATR022 Atrial Septal Defect 3 29
1825 VND005 Van Den Ende-Gupta Syndrome 29
1826 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 29
1827 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 29
1828 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
1829 c RTN052 Retinitis Pigmentosa 23 29
1830 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1831 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 29
1832 c PRX060 Peroxisome Biogenesis Disorder 5a 29
1833 c RTN057 Retinitis Pigmentosa 29 29
1834 c RTN152 Retinitis Pigmentosa 66 29
1835 c CNG188 Congenital Disorder of Glycosylation, Type if 29
1836 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 29
1837 c ACQ027 Acquired Cutis Laxa 29
1838 YSY001 Yao Syndrome 29
1839 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 29
1840 BCH003 Boucher-Neuhauser Syndrome 29
1841 c ELL005 Elliptocytosis 2 29
1842 MST021 Meester-Loeys Syndrome 29
1843 c FRN048 Frontometaphyseal Dysplasia 2 29
1844 c BST008 Bestrophinopathy, Autosomal Recessive 29
1845 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
1846 c NNN011 Noonan Syndrome 4 29
1847 LRY022 Laryngoonychocutaneous Syndrome 29
1848 WTT002 Witteveen-Kolk Syndrome 29
1849 CRD220 Cardiac Valvular Defect, Developmental 29
1850 MCR183 Microcephaly-Capillary Malformation Syndrome 29
1851 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29
1852 P CRN249 Cornea Plana 29
1853 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1854 c DYS139 Dyschromatosis Universalis Hereditaria 3 29
1855 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
1856 P XLN161 X-Linked Chondrodysplasia Punctata 29
1857 c NML003 Nemaline Myopathy 2 29
1858 RHN013 Rh-Null, Regulator Type 29
1859 FNC030 Fanconi Anemia, Complementation Group G 29
1860 c LBR018 Leber Congenital Amaurosis 8 29
1861 PHS014 Phosphoglycerate Kinase 1 Deficiency 29
1862 SVN002 Sveinsson Chorioretinal Atrophy 29
1863 c INF041