Genetic Diseases Category (7864 diseases)


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

# Family MCID Name MIFTS
1 FML089 Familial Thoracic Aortic Aneurysm and Dissection 65
2 P MLT048 Multiple Familial Trichoepithelioma 42
3 c PRG126 Progressive Familial Heart Block 49
4 PRM175 Primary Familial Brain Calcification 42
5 c PRG047 Progressive Familial Intrahepatic Cholestasis 59
6 c SZR014 Seizures, Benign Familial Infantile, 1 25
7 c BNG006 Benign Familial Neonatal Epilepsy 47
8 P BNG026 Benign Neonatal Seizures 47
9 P NNT056 Neonatal Epilepsy Syndrome 7
10 P FML052 Familial Cold Autoinflammatory Syndrome 58
11 c FML157 Familial Male-Limited Precocious Puberty 33
12 ATT003 Attenuated Familial Adenomatous Polyposis 48
13 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 35
14 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 20
15 c LPD040 Lipodystrophy, Familial Partial, Type 1 40
16 MTR030 Mitral Valve Prolapse, Familial, X-Linked 21
17 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 11
18 P CRD132 Cardiac Conduction Defect 61
19 P FML012 Familial Partial Lipodystrophy 54
20 c LPD019 Lipodystrophy, Partial, Acquired 44
21 c FML250 Familial Progressive Cardiac Conduction Defect 37
22 LRY047 Laryngeal Abductor Paralysis 28
23 CNV009 Convulsions Benign Familial Neonatal Dominant Form 18
24 P FML156 Familial Hyperaldosteronism 41
25 TMP005 Temporal Epilepsy, Familial 25
26 c RRP004 Rare Primary Hyperaldosteronism 10
27 P NTR004 Neutropenia 64
28 c SVR003 Severe Congenital Neutropenia 59
29 c FML023 Familial Hemiplegic Migraine 54
30 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 52
31 FML063 Familial Glucocorticoid Deficiency 51
32 EWN002 Ewing's Family of Tumors 48
33 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 35
34 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 34
35 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 32
36 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 25
37 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
38 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 25
39 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 23
40 c NTR045 Neutropenia, Chronic Familial 20
41 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 19
42 c ACQ053 Acquired Neutropenia 14
43 GNV002 Genu Valgum, St. Helena Familial 11
44 P EPL164 Epilepsy 73
45 c FML001 Familial Atrial Fibrillation 67
46 P ATR011 Atrial Fibrillation 67
47 P CRB048 Cerebral Cavernous Malformations 65
48 P PRN026 Porencephaly 46
49 c BNG023 Benign Familial Infantile Epilepsy 44
50 c FML084 Familial Porencephaly 33
51 c CRB051 Cerebral Cavernous Malformation, Familial 27
52 c INF185 Infantile Epilepsy Syndrome 23
53 c RRP028 Rare Epilepsy 18
54 c ACQ029 Acquired Porencephaly 9
55 c INF176 Infectious Disease with Epilepsy 4
56 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 4
57 ATY012 Atypical Mycobacteriosis, Familial 34
58 MCR031 Macrocephaly, Benign Familial 16
59 FML075 Familial Isolated Hyperparathyroidism 44
60 c BNG079 Benign Adult Familial Myoclonic Epilepsy 36
61 DYS182 Dysphasia, Familial Developmental 35
62 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 12
63 c MTR080 Mitral Valve Prolapse 1 29
64 THM023 Thiemann Disease 21
65 CRN069 Corneal Hypesthesia, Familial 18
66 CPP001 Copper Deficiency, Familial Benign 18
67 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
68 OSS006 Ossicular Malformations, Familial 11
69 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
70 SHL003 Shoulder Girdle Defect Mental Retardation Familial 5
71 c FBR067 Febrile Seizures, Familial, 9 14
72 c FBR076 Febrile Seizures, Familial, 7 12
73 P ART067 Aortic Aneurysm, Familial Thoracic 1 62
74 c ART138 Aortic Aneurysm, Familial Abdominal, 1 62
75 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
76 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 19
77 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 16
78 DWR023 Dwarfism, Familial, with Muscle Spasms 11
79 c HRD010 Hereditary Spastic Paraplegia 67
80 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
81 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 51
82 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 45
83 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
84 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
85 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
86 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
87 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 41
88 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
89 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 41
90 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
91 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 38
92 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
93 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 38
94 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
95 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 37
96 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 37
97 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 37
98 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
99 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
100 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
101 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
102 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
103 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
104 c SPS021 Spastic Paraplegia 10 35
105 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 34
106 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
107 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
108 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 34
109 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
110 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
111 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
112 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
113 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
114 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
115 c SPS025 Spastic Paraplegia 15 31
116 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
117 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 31
118 c SPS036 Spastic Paraplegia 3 31
119 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30
120 c SPS013 Spastic Paraplegia 8 30
121 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
122 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
123 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 28
124 c SPS039 Spastic Paraplegia 5a 28
125 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 28
126 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
127 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27
128 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
129 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 27
130 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 27
131 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 27
132 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
133 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
134 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
135 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
136 P SPS012 Spastic Paraplegia 3a 26
137 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 26
138 c SPS092 Spastic Paraplegia 11 26
139 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 25
140 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
141 c ATS420 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 24
142 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
143 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
144 c SPS027 Spastic Paraplegia 17 24
145 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
146 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 23
147 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
148 c SPS020 Spastic Paraplegia 1 22
149 c SPS042 Spastic Paraplegia 9 22
150 c SPS023 Spastic Paraplegia 13 21
151 c HRD186 Hereditary Spastic Paraplegia 51 20
152 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 20
153 c SPS037 Spastic Paraplegia 31 20
154 c SPS038 Spastic Paraplegia 39 19
155 c HRD188 Hereditary Spastic Paraplegia 72 19
156 c SPS022 Spastic Paraplegia 12 19
157 c SPS028 Spastic Paraplegia 18 18
158 c SPS034 Spastic Paraplegia 26 18
159 c SPS032 Spastic Paraplegia 24 15
160 c HRD210 Hereditary Spastic Paraplegia 23 14
161 c SPS029 Spastic Paraplegia 19 14
162 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
163 c SPS035 Spastic Paraplegia 29 13
164 c SPS161 Spastic Paraplegia 32 13
165 c SPS033 Spastic Paraplegia 25 13
166 c SPS080 Spastic Paraplegia 51 12
167 c SPS024 Spastic Paraplegia 14 12
168 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
169 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 12
170 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 12
171 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 12
172 c SPS165 Spastic Paraplegia 47 12
173 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
174 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
175 c SPS230 Spastic Paraplegia Type 49 11
176 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
177 c SPS026 Spastic Paraplegia 16 11
178 c SPS040 Spastic Paraplegia 5b 7
179 c PRM005 Primary Hyperparathyroidism 60
180 P ANT006 Antiphospholipid Syndrome 56
181 P PRM001 Primary Cutaneous Amyloidosis 44
182 INT304 Interstitial Pneumonitis, Desquamative, Familial 42
183 c FBR073 Febrile Seizures, Familial, 1 29
184 c ANT041 Antiphospholipid Syndrome, Familial 22
185 JNT001 Joint Laxity, Familial 22
186 FML351 Familiar Chronic Mucocutaneous Candidiasis 21
187 c FBR075 Febrile Seizures, Familial, 2 20
188 DSC014 Discoid Fibromas, Familial Multiple 18
189 c FBR074 Febrile Seizures, Familial, 6 16
190 c FBR071 Febrile Seizures, Familial, 5 16
191 c FML348 Familial Pityriasis Rubra Pilaris 14
192 c FBR068 Febrile Seizures, Familial, 10 13
193 P HYP040 Hypospadias 54
194 P OPT070 Optic Nerve Hypoplasia, Bilateral 47
195 LPM010 Lipomatosis, Multiple Symmetric 39
196 FML307 Familial Calcium Pyrophosphate Deposition 38
197 P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 30
198 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24
199 P HYD015 Hydroa Vacciniforme 23
200 c FML309 Familial Infantile Bilateral Striatal Necrosis 19
201 OST150 Osteodysplasia, Familial, Anderson Type 16
202 c PST093 Posterior Hypospadias 16
203 c HYP545 Hypospadias 3, Autosomal 14
204 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 14
205 c HYD016 Hydroa Vacciniforme, Familial 11
206 UMB003 Umbilicus, Familial Flat 8
207 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
208 RGH002 Right Atrium Familial Dilatation 4
209 c LPM012 Lipomatosis, Multiple 60
210 STT041 Stuttering 53
211 P LPM005 Lipomatosis 49
212 P FML313 Familial Progressive Hyperpigmentation 29
213 ESN023 Eosinophilia, Familial 22
214 P HYP097 Hyperekplexia 61
215 c HRD039 Hereditary Amyloidosis 46
216 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 43
217 P WLL010 Woolly Hair Syndrome 39
218 CHR525 Chromosome Xq26.3 Duplication Syndrome 35
219 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
220 c CND033 Candidiasis, Familial, 1 30
221 P PRD017 Periodic Paralyses 27
222 DCR009 Dicer1-Related Disorders 26
223 c TRC094 Trichoepithelioma, Multiple Familial, 2 22
224 c FML249 Familial Amyloidosis, Finnish Type 21
225 THY106 Thyroglossal Duct Cyst, Familial 21
226 P FML048 Familial Avascular Necrosis of the Femoral Head 21
227 c WLL018 Woolly Hair, Autosomal Dominant 20
228 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 19
229 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 18
230 c WLL035 Woolly Hair, Autosomal Recessive 3 18
231 c FML159 Familial Periodic Paralyses 17
232 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 13
233 DSM004 Desmoid Tumor 61
234 PMP006 Pemphigus Vulgaris, Familial 56
235 P INT260 Intracranial Berry Aneurysm 38
236 FML206 Familial Cerebral Saccular Aneurysm 22
237 LNT008 Lentiginosis, Inherited Patterned 21
238 c CND027 Candidiasis, Familial, 3 18
239 ADC005 Adcy5-Related Dyskinesia 18
240 FMR009 Fmr1-Related Primary Ovarian Insufficiency 17
241 GGN006 Gigantiform Cementoma, Familial 16
242 c ART152 Aortic Aneurysm, Familial Abdominal, 3 14
243 c FCL065 Facial Palsy, Familial Recurrent Peripheral 13
244 c SZR025 Seizures, Benign Familial Neonatal, 3 12
245 EPL014 Epilepsy, Partial, Familial 12
246 c SZR011 Seizures, Benign Familial Infantile, 4 12
247 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 10
248 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 10
249 P RCR003 Recurrent Peripheral Facial Palsy 9
250 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 7
251 FML088 Familial Streblodactyly 6
252 c MLT160 Multiple Endocrine Neoplasia, Type Iia 69
253 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
254 P MLT074 Multiple Endocrine Neoplasia 59
255 c MLT086 Multiple Endocrine Neoplasia, Type Iv 51
256 c HYD046 Hydatidiform Mole, Recurrent, 1 62
257 c ESS001 Essential Tremor 58
258 P HYP076 Hyperthyroidism 55
259 P CRY007 Cryoglobulinemia, Familial Mixed 50
260 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42
261 FML330 Familial Lcat Deficiency 40
262 c TYP024 Type Ii Mixed Cryoglobulinemia 36
263 P HYP078 Hypertrophy of Breast 35
264 TST023 Testotoxicosis 35
265 c FML350 Familial Febrile Seizures 31
266 HRD084 Hereditary Cerebral Amyloid Angiopathy 29
267 NPP006 Nipples, Supernumerary 29
268 P RCR026 Recurrent Hydatidiform Mole 26
269 c HYD041 Hydatidiform Mole, Recurrent, 2 24
270 c TRM017 Tremor, Hereditary Essential, 4 21
271 c HYP678 Hypertrophy of the Breast, Juvenile 20
272 GLC053 Glucocorticoid Deficiency 3 20
273 CRR016 Cirrhosis, Familial 19
274 CLL041 Collagenoma, Familial Cutaneous 19
275 c TRM022 Tremor, Hereditary Essential, 5 19
276 c TRM020 Tremor, Hereditary Essential, 2 19
277 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 18
278 c HYD067 Hydatidiform Mole, Recurrent, 3 15
279 c HYD068 Hydatidiform Mole, Recurrent, 4 15
280 c MXD037 Mixed Cryoglobulinemia Type Iii 13
281 c XNC002 X Inactivation, Familial Skewed, 2 13
282 c TRM016 Tremor, Hereditary Essential, 3 12
283 ABS007 Absent Patella 12
284 c RRH008 Rare Hyperthyroidism 12
285 FML160 Familial Spastic Paralysis 10
286 c RRT014 Rare Tremor Disorder 4
287 P OVR042 Ovarian Cancer 89
288 P PLM036 Pulmonary Fibrosis 66
289 P HMN010 Hemangioma 62
290 c VSC019 Vesicoureteral Reflux 1 62
291 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 59
292 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 56
293 P SCK002 Sick Sinus Syndrome 56
294 P PLY018 Polycythemia 56
295 P OVR049 Ovarian Disease 55
296 P MYS005 Myositis 54
297 c PRM012 Primary Polycythemia 52
298 P OTS001 Otosclerosis 51
299 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 48
300 PRP007 Priapism 47
301 KLN009 Kleine-Levin Hibernation Syndrome 46
302 HRT015 Heritable Pulmonary Arterial Hypertension 46
303 ATX019 Ataxia with Vitamin E Deficiency 46
304 P PSD003 Pseudohypoaldosteronism 45
305 c ACQ010 Acquired Polycythemia 43
306 c FML297 Familial Thyroid Dyshormonogenesis 43
307 ACH015 Achalasia, Familial Esophageal 42
308 c OVR114 Ovarian Cancer 1 39
309 P HYP120 Hypoaldosteronism 38
310 BNG018 Benign Paroxysmal Positional Nystagmus 37
311 FBR089 Fibrosclerosis, Multifocal 37
312 c FML272 Familial Sick Sinus Syndrome 35
313 c FML353 Familial Ovarian Cancer 35
314 ALV006 Alveolar Capillary Dysplasia 33
315 c PSD090 Pseudohypoaldosteronism, Type Iia 32
316 CFL005 Cafe-Au-Lait Spots, Multiple 31
317 c FML324 Familial Porphyria Cutanea Tarda 31
318 c PRP091 Porphyria Cutanea Tarda, Type I 31
319 c ALZ062 Alzheimer Disease 19 30
320 P PLM182 Pulmonary Hypoplasia, Primary 30
321 c OTS005 Otosclerosis 1 29
322 P THY061 Thyroid Dyshormonogenesis 2a 29
323 c THY071 Thyroid Dyshormonogenesis 1 28
324 c THY056 Thyroid Dyshormonogenesis 3 28
325 P FML284 Familial Vesicoureteral Reflux 27
326 c ALZ057 Alzheimer Disease 10 27
327 c MLG144 Malignant Hemangioma 26
328 c ALZ012 Alzheimer Disease 12 26
329 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 26
330 P HRD207 Hereditary Transthyretin Amyloidosis 26
331 P PRX010 Paroxysmal Ventricular Fibrillation 26
332 c THY063 Thyroid Dyshormonogenesis 4 25
333 c PSD068 Pseudohypoaldosteronism, Type Iic 25
334 c TRN053 Transient Pseudohypoaldosteronism 25
335 c ALZ045 Alzheimer Disease 9 24
336 c ALZ016 Alzheimer Disease 8 24
337 c PLM044 Pulmonary Fibrosis, Familial 24
338 c PSD094 Pseudohypoaldosteronism, Type Iib 23
339 CLL039 Collagenosis, Familial Reactive Perforating 23
340 c SCK022 Sick Sinus Syndrome 3 23
341 P CMP101 Complex Hereditary Spastic Paraplegia 23
342 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 22
343 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 22
344 c CNG578 Congenital Hemangioma 22
345 c ALZ015 Alzheimer Disease 6 22
346 P PRH002 Pure Hereditary Spastic Paraplegia 22
347 c VSC046 Vesicoureteral Reflux 8 22
348 c MTR077 Mitral Valve Prolapse 2 22
349 CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 22
350 c THY110 Thyroid Dyshormonogenesis 6 21
351 c VSC020 Vesicoureteral Reflux 2 21
352 c VSC025 Vesicoureteral Reflux 3 21
353 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 21
354 c ALZ053 Alzheimer Disease 7 21
355 c ALZ014 Alzheimer Disease 16 21
356 c ATS209 Autosomal Dominant Secondary Polycythemia 21
357 RHZ008 Rhizomelic Syndrome 20
358 c THY062 Thyroid Dyshormonogenesis 5 20
359 c ALZ032 Alzheimer Disease 18 20
360 c MGR036 Migraine with or Without Aura 2 20
361 c ACQ004 Acquired Hemangioma 19
362 c ALZ060 Alzheimer Disease 14 19
363 c MTR083 Mitral Valve Prolapse 3 19
364 ANG063 Angiolipomatosis, Familial 18
365 c ALZ031 Alzheimer Disease 17 18
366 c WLM017 Wilms Tumor 4 18
367 c ALZ061 Alzheimer Disease 15 18
368 c OTS007 Otosclerosis 3 17
369 c OTS006 Otosclerosis 2 17
370 ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 16
371 c ALZ059 Alzheimer Disease 13 16
372 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
373 c OTS012 Otosclerosis 10 15
374 c VRL025 Viral Myositis 15
375 c OTS010 Otosclerosis 7 15
376 c ART151 Aortic Aneurysm, Familial Abdominal, 2 15
377 c CRD057 Cardiomyopathy, Familial Restrictive, 2 15
378 c ATS470 Autosomal Dominant Pure Spastic Paraplegia 14
379 c VSC043 Vesicoureteral Reflux 6 14
380 c OTS008 Otosclerosis 4 14
381 CMD004 Comedones, Familial Dyskeratotic 14
382 c OTS011 Otosclerosis 8 14
383 FML325 Familial Cervical Artery Dissection 14
384 c BCT018 Bacterial Myositis 14
385 c OTS009 Otosclerosis 5 13
386 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 13
387 c VSC042 Vesicoureteral Reflux 5 13
388 c VSC040 Vesicoureteral Reflux 4 12
389 c VSC041 Vesicoureteral Reflux 7 12
390 ERY057 Erythema Nodosum, Familial 12
391 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 12
392 c ATS154 Autosomal Recessive Complex Spastic Paraplegia 11
393 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 11
394 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 11
395 AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 11
396 NGY001 Nguyen Syndrome 11
397 FML329 Familial Caudal Dysgenesis 10
398 P STT039 Stuttering, Familial Persistent, 4 10
399 c LCL003 Localized Pulmonary Fibrosis 10
400 IMM016 Immune Deficiency, Familial Variable 10
401 c STT036 Stuttering, Familial Persistent, 3 10
402 P PRR040 Pure or Complex Hereditary Spastic Paraplegia 9
403 c PRR042 Pure or Complex Autosomal Recessive Spastic Paraplegia 9
404 c ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 9
405 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 9
406 NFK002 Nf-Kappa B Essential Modulator Deficiency 9
407 c ATS471 Autosomal Dominant Complex Spastic Paraplegia 9
408 c ERL059 Early-Onset Familial Hypoaldosteronism 9
409 c CNG266 Congenital Secondary Polycythemia 8
410 c LTN026 Late-Onset Familial Hypoaldosteronism 8
411 c ACQ028 Acquired Secondary Polycythemia 7
412 c ATS153 Autosomal Recessive Pure Spastic Paraplegia 7
413 c FML158 Familial Hemangioma 6
414 c PLY005 Polycythemia Due to Hypoxia 6
415 c RRH005 Rare Hypoaldosteronism 5
416 c OTS004 Otosclerosis, Familial 5
417 c PRR041 Pure or Complex Autosomal Dominant Spastic Paraplegia 4
418 c OVR071 Ovarian Insufficiency, Familial 4
419 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
420 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
421 FML082 Familial Partial Paralysis 2
422 HYP197 Hypofibrinogenemia, Familial 2
423 DST014 Distal Primary Acidosis, Familial 1
424 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 1
425 MLT051 Multiple Fibrofolliculoma Familial 1
426 NSL012 Nasal Polyposis, Familial 1
427 PLM055 Pulmonary Artery Familial Dilatation 1
428 CYC008 Cyclic Vomiting Syndrome 46
429 ACT164 Actinic Prurigo 44
430 FML091 Familial Tumoral Calcinosis 40
431 P FML340 Familial Episodic Pain Syndrome 28
432 UPN001 Upington Disease 17
433 P ISL078 Isolated Ectopia Lentis 55
434 c CNG012 Congenital Generalized Lipodystrophy 53
435 c CHL140 Chilblain Lupus 1 52
436 c CNT075 Central Precocious Puberty 50
437 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 49
438 MTY001 Mutyh-Associated Polyposis 48
439 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 48
440 P PRC019 Precocious Puberty 48
441 P ACQ022 Acquired Generalized Lipodystrophy 46
442 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 43
443 P HRD086 Hereditary Hypophosphatemic Rickets 41
444 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
445 CNG064 Congenital Chloride Diarrhea 33
446 c PRC047 Precocious Puberty, Central, 1 31
447 P VRT013 Vertigo, Benign Recurrent 29
448 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
449 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
450 P FML337 Familial Chilblain Lupus 23
451 c PRC046 Precocious Puberty, Central, 2 23
452 FLR003 Florid Cemento-Osseous Dysplasia 21
453 c CHL114 Chilblain Lupus 2 20
454 ANR043 Aniridia and Absent Patella 17
455 HRS037 Hirschsprung Disease with Type D Brachydactyly 17
456 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
457 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 16
458 c HYP842 Hyperlipidemia, Familial Combined, 2 15
459 VST008 Vestibulocochlear Dysfunction, Progressive 14
460 CMP022 Camptodactyly Taurinuria 13
461 c SCN039 Secondary Central Precocious Puberty 10
462 c VRT008 Vertigo, Benign Recurrent, 2 9
463 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 8
464 c RRP025 Rare Precocious Puberty 7
465 c HYP595 Hypertension, Essential 87
466 P RTN024 Retinoblastoma 74
467 c MGR028 Migraine with or Without Aura 1 70
468 c WLM013 Wilms Tumor 1 69
469 c LNG044 Long Qt Syndrome 1 66
470 P HYP069 Hyperparathyroidism 64
471 c WLM018 Wilms Tumor 5 63
472 c THY102 Thyroid Cancer, Nonmedullary, 2 59
473 c LNG047 Long Qt Syndrome 2 57
474 P SHR029 Short Syndrome 56
475 P LCH002 Lichen Planus 55
476 c FML191 Familial Long Qt Syndrome 54
477 P HYP083 Hypopituitarism 53
478 P NLD001 Nail Disease 52
479 c SCN007 Secondary Hyperparathyroidism 52
480 BNG009 Benign Epilepsy with Centrotemporal Spikes 52
481 P BND018 Band Heterotopia 51
482 P ACT008 Actinic Keratosis 50
483 c LNG048 Long Qt Syndrome 3 50
484 P FML355 Familial Intrahepatic Cholestasis 49
485 P OBS001 Obstructive Jaundice 49
486 HMZ003 Homozygous Familial Hypercholesterolemia 48
487 P MGR001 Migraine Without Aura 47
488 c SHR030 Short Qt Syndrome 47
489 MCL027 Macular Dystrophy, Dominant Cystoid 47
490 c MLG069 Malignant Hypertension 46
491 P KRT005 Keratoacanthoma 46
492 c FML008 Familial Retinoblastoma 46
493 BRR012 Berardinelli-Seip Congenital Lipodystrophy 46
494 c LNG051 Long Qt Syndrome 6 45
495 c LNG050 Long Qt Syndrome 5 45
496 P ORF002 Orofacial Cleft 44
497 P CLS010 Cluster Headache 44
498 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 42
499 c FML294 Familial Short Qt Syndrome 41
500 c LNG053 Long Qt Syndrome 9 41
501 P HMF004 Hemifacial Spasm 40
502 c LNG056 Long Qt Syndrome 12 39
503 c LNG096 Long Qt Syndrome 15 38
504 c WLM011 Wilms Tumor 6 38
505 SPN354 Spinal Arachnoiditis 37
506 c LNG057 Long Qt Syndrome 13 37
507 TRN030 Transient Erythroblastopenia of Childhood 35
508 P FML187 Familial Hypertension 35
509 NND010 Nondisjunction 35
510 c FML306 Familial or Sporadic Hemiplegic Migraine 34
511 c ART068 Aortic Aneurysm, Familial Thoracic 2 34
512 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 34
513 c HMF011 Hemifacial Spasm, Familial 34
514 c MNS014 Monosomy 22 33
515 PDT014 Pediatric Ependymoma 33
516 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
517 P GLM006 Glomangioma 32
518 c HRD198 Hereditary Dystonia 32
519 c MLG039 Malignant Essential Hypertension 31
520 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
521 c SPR083 Sporadic Hemiplegic Migraine 30
522 c LNG098 Long Qt Syndrome 14 29
523 c BNG021 Benign Essential Hypertension 29
524 5LP001 5-Alpha Reductase Deficiency 29
525 c SPS091 Spastic Paraplegia 4 29
526 c SHR032 Short Qt Syndrome 2 29
527 FML235 Familial Combined Hyperlipoproteinemia 29
528 FML292 Familial Drusen 29
529 c ORF048 Orofacial Cleft 1 28
530 P ACT232 Acute Necrotizing Encephalopathy 28
531 c SHR033 Short Qt Syndrome 3 28
532 c SHR031 Short Qt Syndrome 1 28
533 c ORF027 Orofacial Cleft 11 28
534 P CRY006 Cryofibrinogenemia 28
535 c WLM005 Wilms Tumor 2 27
536 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 27
537 P HRD009 Hereditary Wilms' Tumor 26
538 c SPS041 Spastic Paraplegia 6 26
539 ACR034 Acrogeria, Gottron Type 26
540 c MNS008 Monosomy 21 25
541 c MLG080 Malignant Secondary Hypertension 25
542 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
543 c ORF028 Orofacial Cleft 10 24
544 c HYP720 Hyperparathyroidism 4 24
545 CRT064 Corticosterone Methyloxidase Deficiency 24
546 c HYP311 Hyperparathyroidism 3 24
547 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 24
548 c LNG046 Long Qt Syndrome 11 23
549 LPM007 Lipomyelomeningocele 23
550 c LNG052 Long Qt Syndrome 8 23
551 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 23
552 c HYP163 Hyperlipidemia Type 3 23
553 DRM041 Dermoid Cysts, Familial Frontonasal 22
554 AMN009 Amniotic Band Syndrome 22
555 c GNS004 Geniospasm 1 21
556 LRY046 Laryngeal Web, Familial 21
557 c ATR026 Atrial Fibrillation, Familial, 1 21
558 c ORF025 Orofacial Cleft 6 21
559 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 21
560 c ANR027 Aneurysm, Intracranial Berry, 1 21
561 c FML223 Familial Keratoacanthoma 21
562 PTR030 Pterygium of Conjunctiva and Cornea 21
563 P FML305 Familial Abdominal Aortic Aneurysm 20
564 c ORF014 Orofacial Cleft 5 20
565 ZNC006 Zinc, Elevated Plasma 20
566 FLN007 Flna-Related Periventricular Nodular Heterotopia 20
567 c THY101 Thyroid Cancer, Nonmedullary, 5 20
568 MND005 Mondini Dysplasia 19
569 c FML258 Familial Acute Necrotizing Encephalopathy 19
570 c SCN048 Secondary Syringomyelia 19
571 c GLM014 Glomerulopathy with Fibronectin Deposits 1 19
572 RTN078 Retinoschisis of Fovea 19
573 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 19
574 c THY100 Thyroid Cancer, Nonmedullary, 4 19
575 c INH025 Inherited Prion Disease 19
576 c FML025 Familial Glomangioma 18
577 c ORF050 Orofacial Cleft 2 18
578 c WLM015 Wilms Tumor 3 18
579 P CNG070 Congenital Dislocation of the Patella 18
580 P ATS469 Autosomal Monosomy 18
581 c MNS011 Monosomy 9q22.3 17
582 c ORF016 Orofacial Cleft 8 17
583 c ORF047 Orofacial Cleft 15 17
584 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 17
585 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 17
586 c ORF049 Orofacial Cleft 3 17
587 c FML275 Familial Hypoaldosteronism 17
588 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
589 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 17
590 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 16
591 c ALZ058 Alzheimer Disease 11 16
592 c MGR033 Migraine with or Without Aura 6 16
593 c ORF031 Orofacial Cleft 14 16
594 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
595 c MGR022 Migraine with or Without Aura 3 16
596 HND005 Hand and Foot Deformity with Flat Facies 16
597 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 16
598 APR002 Aip-Related Familial Isolated Pituitary Adenomas 15
599 c ATR027 Atrial Fibrillation, Familial, 5 15
600 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 15
601 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 15
602 P FML354 Familial Nonmedullary Thyroid Carcinoma 15
603 c CLS053 Cluster Headache, Familial 15
604 c MGR024 Migraine with or Without Aura 5 15
605 FLT007 Flotch Syndrome 15
606 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 15
607 c ORF029 Orofacial Cleft 13 15
608 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 14
609 WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 14
610 c MGR042 Migraine with or Without Aura 13 14
611 c MGR023 Migraine Without Aura 4 14
612 c MGR040 Migraine with or Without Aura 12 14
613 PLM045 Palmer Pagon Syndrome 14
614 c ACT229 Acute Necrotizing Encephalopathy Type 1 14
615 c ORF023 Orofacial Cleft 4 14
616 c THY117 Thyroid Cancer, Nonmedullary, 3 14
617 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 14
618 c ANR028 Aneurysm, Intracranial Berry, 3 14
619 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
620 c ORF020 Orofacial Cleft 12 14
621 c ANR011 Aneurysm, Intracranial Berry, 2 13
622 c ORF024 Orofacial Cleft 9 13
623 c ATR025 Atrial Fibrillation, Familial, 2 13
624 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 13
625 P HRD194 Hereditary Geniospasm 13
626 c FML255 Familial Syringomyelia 13
627 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
628 EPL008 Epilepsy Occipital Calcifications 13
629 c ANR029 Aneurysm, Intracranial Berry, 6 13
630 c ATR028 Atrial Fibrillation, Familial, 8 13
631 c MGR037 Migraine with or Without Aura 8 13
632 c ANR024 Aneurysm, Intracranial Berry, 9 13
633 c MGR038 Migraine with or Without Aura 10 13
634 c LCH017 Lichen Planus, Familial 13
635 c ANR022 Aneurysm, Intracranial Berry, 4 13
636 ECT009 Ectopia Pupillae 13
637 c ANR026 Aneurysm, Intracranial Berry, 5 12
638 c ANR023 Aneurysm, Intracranial Berry, 7 12
639 c ANR030 Aneurysm, Intracranial Berry, 8 12
640 c PRM168 Primary Syringomyelia 12
641 c RRL001 Rare Lichen Planus 12
642 c ANR025 Aneurysm, Intracranial Berry, 10 12
643 c MGR039 Migraine with or Without Aura 11 12
644 FML079 Familial Nasal Acilia 12
645 CHR648 Chorea, Remitting, with Nystagmus and Cataract 11
646 c ANR039 Aneurysm, Intracranial Berry, 11 11
647 P CHR636 Chorea, Benign Familial 11
648 c RRH011 Rare Hyperparathyroidism 11
649 c HYP447 Hypertension, Essential 1 11
650 c HYP452 Hypertension, Essential 6 11
651 ALP096 Alopecia, Familial Focal 11
652 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 10
653 c HYP448 Hypertension, Essential 2 10
654 c FML072 Familial Hypopituitarism 10
655 c HYP449 Hypertension, Essential 3 10
656 c HYP450 Hypertension, Essential 4 10
657 c FML317 Familial Monosomy 7 Syndrome 10
658 TTR009 Tetralogy of Fallot and Glaucoma 10
659 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
660 OPH016 Ophthalmoplegia, Familial Static 10
661 P FML050 Familial Bilateral Striatal Necrosis 10
662 c CRY033 Cryofibrinogenemia, Familial Primary 10
663 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
664 c PTL011 Patella, Familial Recurrent Dislocation of 9
665 c HYP451 Hypertension, Essential 5 9
666 c HYP454 Hypertension, Essential 8 9
667 c KRT070 Keratosis, Familial Actinic 9
668 FML336 Familial Patent Arterial Duct 9
669 c HYP453 Hypertension, Essential 7 9
670 c FML094 Familial Wilms Tumor 2 9
671 FML202 Familial Alzheimer-Like Prion Disease 9
672 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 9
673 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 9
674 LMB070 Lumbar Stenosis, Familial 9
675 CHR631 Choreoathetosis, Familial Inverted 9
676 FML352 Familial Scaphocephaly Syndrome 9
677 CRD227 Cardiac Lipidosis, Familial 8
678 c MRL006 Meralgia Paraesthetica, Familial 8
679 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 8
680 CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 8
681 LGL002 Leg Ulcers, Familial, of Juvenile Onset 8
682 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 8
683 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 8
684 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 8
685 MSC143 Muscle Cramps, Familial 8
686 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 7
687 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 7
688 EDM003 Edema, Familial Idiopathic, Prepubertal 7
689 BND019 Bundle Branch Block, Familial Isolated Complete Right 7
690 STT047 Setting-Sun Phenomenon, Familial Benign 7
691 FML224 Familial Idiopathic Dilatation of the Right Atrium 7
692 PCH021 Pachydermodactyly, Familial 7
693 HST021 Histiocytosis, Familial Lipochrome 7
694 MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 7
695 c OBS847 Obsolete: Familial Articular Chondrocalcinosis Type 1 7
696 AZT005 Azotemia, Familial 7
697 MCR339 Macrocytosis, Familial 7
698 BLN022 Blue Nevi, Familial Multiple 7
699 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 7
700 c BNG034 Benign Secondary Hypertension 7
701 NSL026 Nasal Hyperpigmentation, Familial Transverse 6
702 PRP095 Priapism, Familial Idiopathic 6
703 URT053 Urticaria, Familial Localized Heat 6
704 CRM011 Cramps, Familial Adolescent 6
705 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 6
706 P OBS848 Obsolete: Familial Articular Chondrocalcinosis Type 2 6
707 c JND003 Jaundice, Familial Obstructive, of Infancy 6
708 BRD052 Broad Terminal Phalanges, Familial 6
709 INS028 Insulin Receptors, Familial Increase in 6
710 STR098 Striae Distensae, Familial 6
711 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 6
712 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 6
713 MYK001 Myokymia with Neonatal Epilepsy 6
714 CRY034 Cryptotia, Familial 6
715 NSL025 Nasal Groove, Familial Transverse 6
716 FVR001 Fever, Familial Lifelong Persistent 6
717 BRC118 Brachial Palsy, Familial Congenital 6
718 MCG001 Mcgillivray Syndrome 6
719 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
720 c FML049 Familial Band Heterotopia 5
721 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 5
722 FRC004 Fara Chlupackova Syndrome 5
723 ZRS001 Zori Stalker Williams Syndrome 5
724 BNG060 Benign Non-Familial Infantile Seizures 5
725 OBS165 Obsolete: Familial Intestinal Malrotation-Facial Anomalies Syndrome 5
726 P OBS266 Obsolete: Familial Restrictive Cardiomyopathy Type 3 5
727 FML216 Familial Isolated Clinodactyly of Fingers 5
728 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
729 FML349 Familial Creutzfeld-Jakob Disease 4
730 c TTL014 Total Autosomal Monosomy 4
731 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
732 FML356 Familial Primary Hypomagnesemia with Normocalcuria 4
733 STL002 Stalker Chitayat Syndrome 3
734 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
735 FML074 Familial Interstitial Fibrosis 3
736 OBS109 Obsolete: Familial Renal Cell Carcinoma 3
737 OBS268 Obsolete: Familial Flecked Retinopathy 3
738 MNG008 Monogenic Disease with Epilepsy 3
739 IDP089 Idiopathic or Cryptogenic Familial Epilepsy Syndrome with Identified Loci/genes 3
740 NNF004 Non-Familial Hypertrophic Cardiomyopathy 3
741 RRG028 Rare Genetic Disease with Myoclonus As a Major Feature 3
742 OBS561 Obsolete: Familial Segmental Neurofibromatosis 3
743 OBS562 Obsolete: Familial Spinal Neurofibromatosis 3
744 c OBS836 Obsolete: Familial Restrictive Cardiomyopathy Type 2 3
745 OBS558 Obsolete: Familial Capillary Hemangioma 2
746 OBS662 Obsolete: Familial Esophageal Achalasia 2
747 OBS715 Obsolete: Unclassified Familial Retinal Dystrophy 2
748 OBS833 Obsolete: Familial Pseudohyperkalemia Type 2 2
749 OBS834 Obsolete: Familial Pseudohyperkalemia, Cardiff Type 2
750 c FML226 Familial Dupuytren Contracture 2
751 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 1
752 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
753 MYL069 Myeloma, Multiple 85
754 P HRT032 Heart Disease 78
755 P RTN008 Retinitis Pigmentosa 77
756 P LYN001 Lynch Syndrome 77
757 c TBR025 Tuberous Sclerosis 1 74
758 P FML011 Familial Adenomatous Polyposis 73
759 P TBR001 Tuberous Sclerosis 72
760 P JBR020 Joubert Syndrome 1 72
761 c FML346 Familial Adenomatous Polyposis 1 71
762 c PRM196 Premature Ovarian Failure 1 70
763 DWN001 Down Syndrome 70
764 c ATS007 Autism Spectrum Disorder 69
765 c TBR026 Tuberous Sclerosis 2 69
766 P DMN001 Diamond-Blackfan Anemia 69
767 P INF038 Influenza 69
768 P FRG001 Fragile X Syndrome 69
769 P DBT085 Diabetes Mellitus, Insulin-Dependent 68
770 P LNG028 Long Qt Syndrome 68
771 P ATS364 Autism 68
772 P CRD224 Cardiofaciocutaneous Syndrome 1 68
773 P SPR120 Supranuclear Palsy, Progressive, 1 68
774 P CRN018 Coronary Artery Anomaly 67
775 P PRM011 Primary Ciliary Dyskinesia 67
776 SMT004 Smith-Lemli-Opitz Syndrome 67
777 P HLP001 Holoprosencephaly 67
778 P LBR001 Leber Congenital Amaurosis 67
779 P DBT009 Diabetes Mellitus 66
780 P CLC063 Celiac Disease 1 66
781 P AGM001 Agammaglobulinemia 66
782 c DPH024 Diaphragmatic Hernia, Congenital 66
783 P NRB010 Neuroblastoma 1 66
784 P CWD010 Cowden Syndrome 66
785 ACH004 Achondroplasia 66
786 P CCK001 Cockayne Syndrome 66
787 NRF026 Neurofibromatosis, Type Iv, of Riccardi 65
788 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65
789 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65
790 P LYS001 Loeys-Dietz Syndrome 65
791 c MCP001 Mucopolysaccharidosis Iii 64
792 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
793 CNT061 Conotruncal Heart Malformations 64
794 P LPR002 Leopard Syndrome 64
795 c FNC043 Fanconi Anemia, Complementation Group E 64
796 P CNG001 Congenital Myasthenic Syndrome 63
797 c MCP050 Mucopolysaccharidosis, Type Ii 63
798 CHY002 Chylomicron Retention Disease 63
799 P ACR001 Aicardi-Goutieres Syndrome 63
800 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
801 P HYP055 Hypoplastic Left Heart Syndrome 63
802 P EPL140 Epilepsy, Idiopathic Generalized 62
803 P EPL198 Epilepsy, Myoclonic Juvenile 62
804 RTH001 Rothmund-Thomson Syndrome 62
805 P BCK002 Beckwith-Wiedemann Syndrome 62
806 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 62
807 P CTR002 Cataract 62
808 P DST002 Distal Arthrogryposis 61
809 c MCP052 Mucopolysaccharidosis, Type Vi 61
810 CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 61
811 P PLY014 Polycystic Kidney Disease 61
812 P CRN015 Cornelia De Lange Syndrome 60
813 P NMN002 Niemann-Pick Disease 60
814 P BRN022 Bronchiectasis 60
815 P CHL002 Childhood Absence Epilepsy 60
816 P PTN014 Patent Ductus Arteriosus 1 60
817 P CRN108 Cranioectodermal Dysplasia 1 60
818 P EHL001 Ehlers-Danlos Syndrome 60
819 HYP810 Hypereosinophilic Syndrome, Idiopathic 60
820 P MLG056 Malignant Hyperthermia 60
821 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 60
822 P ATS308 Autosomal Dominant Cerebellar Ataxia 60
823 c DWL002 Dowling-Degos Disease 1 59
824 P CRN300 Coronary Heart Disease 1 59
825 HJD001 Hajdu-Cheney Syndrome 59
826 c CLR131 Ciliary Dyskinesia, Primary, 1 59
827 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 59
828 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 59
829 DNH001 Donohue Syndrome 59
830 DBT087 Diabetes Insipidus, Neurohypophyseal 59
831 P WLF004 Wolfram Syndrome 58
832 P PRP029 Porphyria 58
833 CYC010 Cyclic Neutropenia 58
834 P ALC033 Alcohol Use Disorder 58
835 P AXN002 Axenfeld-Rieger Syndrome 58
836 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 58
837 P INF037 Inflammatory Bowel Disease 57
838 CFF002 Coffin-Lowry Syndrome 57
839 P SCK004 Seckel Syndrome 57
840 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56
841 DYS192 Dystonia, Dopa-Responsive 56
842 c WLF013 Wolfram Syndrome 1 56
843 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 56
844 P BRT004 Bartter Disease 56
845 P MLT007 Multiple Epiphyseal Dysplasia 56
846 c LBR014 Leber Congenital Amaurosis 4 55
847 c FRS014 Fraser Syndrome 1 55
848 ANN002 Anencephaly 55
849 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 55
850 P DRR001 Diarrhea 55
851 P TRM003 Tremor 55
852 P ATR001 Atrioventricular Septal Defect 55
853 P LFT003 Left Ventricular Noncompaction 55
854 ARS001 Aarskog-Scott Syndrome 54
855 ABL002 Ablepharon-Macrostomia Syndrome 54
856 P FBR031 Febrile Seizures 54
857 P CNG010 Congenital Stationary Night Blindness 54
858 P BRC006 Brachydactyly 54
859 c BRC078 Brachydactyly, Type A1 54
860 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 54
861 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54
862 ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 54
863 P WLL002 Weill-Marchesani Syndrome 54
864 c CRN139 Cornelia De Lange Syndrome 1 54
865 P PRS049 Persistent Mullerian Duct Syndrome 53
866 P EPL116 Epileptic Encephalopathy, Childhood-Onset 53
867 c ACR116 Aicardi-Goutieres Syndrome 1 53
868 P MYM013 Moyamoya Disease 1 53
869 P MRG008 Meier-Gorlin Syndrome 1 53
870 c ART144 Arthrogryposis, Distal, Type 1a 53
871 c AXN009 Axenfeld-Rieger Syndrome, Type 1 53
872 P VSC013 Visceral Heterotaxy 53
873 P STC001 Stickler Syndrome 53
874 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
875 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 52
876 GLC012 Galactosialidosis 52
877 BRL010 Buruli Ulcer 52
878 c ANT077 Anterior Segment Dysgenesis 1 51
879 c AXN010 Axenfeld-Rieger Syndrome, Type 3 51
880 c BRC051 Brachydactyly, Type B1 51
881 P PRK001 Porokeratosis 51
882 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
883 c CNR007 Cone-Rod Dystrophy 6 51
884 P NML001 Nemaline Myopathy 51
885 ATX038 Ataxia and Polyneuropathy, Adult-Onset 51
886 c XNT010 Xanthinuria, Type I 51
887 GLS018 Glass Syndrome 51
888 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 51
889 P KRT007 Keratoconus 51
890 DYG001 Dyggve-Melchior-Clausen Disease 51
891 P THY054 Thyrotoxic Periodic Paralysis 51
892 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 51
893 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 50
894 P NNT009 Neonatal Diabetes Mellitus 50
895 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 50
896 P 46X052 46,xx Sex Reversal 1 50
897 P HRD012 Hereditary Elliptocytosis 50
898 OCL008 Oculopharyngeal Muscular Dystrophy 50
899 P ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 50
900 P OPT048 Opitz-Gbbb Syndrome 50
901 P CRN276 Corneal Endothelial Dystrophy 50
902 MLT134 Multiple Pterygium Syndrome, Lethal Type 50
903 NRL018 Neural Tube Defects, Folate-Sensitive 50
904 P PRX021 Proximal Symphalangism 49
905 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 49
906 ATS010 Autosomal Recessive Disease 49
907 c WRB002 Warburg Micro Syndrome 1 49
908 c SPL067 Split-Hand/foot Malformation 1 49
909 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
910 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 48
911 c NML003 Nemaline Myopathy 2 48
912 c NML002 Nemaline Myopathy 1 48
913 c FNC045 Fanconi Anemia, Complementation Group F 48
914 P CHR637 Choroidal Dystrophy, Central Areolar, 1 48
915 P AML002 Amelogenesis Imperfecta 48
916 c CCK007 Cockayne Syndrome B 48
917 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 48
918 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 48
919 c OPT050 Opitz Gbbb Syndrome, Type Ii 48
920 HYP801 Hyperferritinemia with or Without Cataract 48
921 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
922 c BRC079 Brachydactyly, Type A2 47
923 c RTN177 Retinitis Pigmentosa 73 47
924 c SCK009 Seckel Syndrome 1 47
925 P OTS002 Otospondylomegaepiphyseal Dysplasia 47
926 P SMP003 Simpson-Golabi-Behmel Syndrome 47
927 c FNC028 Fanconi Anemia, Complementation Group L 47
928 RPP001 Rapp-Hodgkin Syndrome 47
929 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
930 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
931 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 47
932 P MTH007 Methemoglobinemia 47
933 P JVN007 Juvenile Absence Epilepsy 47
934 P SDR003 Sideroblastic Anemia 47
935 c MCK032 Meckel Syndrome, Type 3 47
936 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
937 c ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 46
938 P KLP003 Klippel-Feil Syndrome 46
939 c NNN010 Noonan Syndrome 3 46
940 MYP151 Myopathy, Congenital, Bailey-Bloch 46
941 c BRC109 Brachydactyly, Type E1 46
942 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 46
943 c OPT051 Opitz Gbbb Syndrome, Type I 46
944 P PRD037 Periodontal Ehlers-Danlos Syndrome 45
945 c FNC032 Fanconi Anemia, Complementation Group B 45
946 P JVN008 Juvenile Glaucoma 45
947 c HMC009 Hemochromatosis Type 2 45
948 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
949 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 45
950 P BCT020 Bacteremia 2 45
951 c BRD044 Bardet-Biedl Syndrome 17 45
952 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 45
953 P ANX007 Anauxetic Dysplasia 1 45
954 c PRM038 Primary Agammaglobulinemia 45
955 c RTN142 Retinitis Pigmentosa 38 45
956 SND002 Sneddon Syndrome 45
957 P ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 45
958 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 45
959 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 45
960 P CRN013 Craniodiaphyseal Dysplasia 45
961 c CTR098 Cataract 1, Multiple Types 45
962 GLC084 Glaucoma, Normal Tension 44
963 P ATR066 Atrial Septal Defect 2 44
964 c HLP023 Holoprosencephaly 1 44
965 c BRD033 Bardet-Biedl Syndrome 13 44
966 c FNC046 Fanconi Anemia, Complementation Group P 44
967 c NML004 Nemaline Myopathy 3 44
968 PLY068 Polysubstance Abuse 44
969 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 44
970 c PNT049 Pontocerebellar Hypoplasia, Type 2d 44
971 P PRT042 Parietal Foramina 44
972 c BRC052 Brachydactyly, Type B2 44
973 c ATS307 Autosomal Recessive Cerebellar Ataxia 44
974 c HLP026 Holoprosencephaly 3 43
975 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 43
976 PST049 Postaxial Acrofacial Dysostosis 43
977 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
978 HYP550 Hypomagnesemia 1, Intestinal 43
979 ASP005 Asphyxiating Thoracic Dystrophy 43
980 c MCK012 Meckel Syndrome, Type 6 43
981 P CRB154 Cerebrocostomandibular Syndrome 43
982 c HYP575 Hypotrichosis 7 43
983 RST023 Resting Heart Rate, Variation in 43
984 P PRC031 Preeclampsia/eclampsia 1 42
985 c HLP029 Holoprosencephaly 4 42
986 c RTS003 Ritscher-Schinzel Syndrome 1 42
987 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
988 P DWL001 Dowling-Degos Disease 42
989 P STR092 Striatal Degeneration, Autosomal Dominant 2 42
990 c BRD017 Bardet-Biedl Syndrome 5 42
991 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 42
992 HSD004 Hsd10 Mitochondrial Disease 42
993 c JBR024 Joubert Syndrome 14 42
994 c BRC081 Brachydactyly, Type C 42
995 P DYS005 Dyslexia 42
996 c BRC060 Brachydactyly, Type E2 42
997 P SPL061 Split Hand-Foot Malformation 42
998 P MLT072 Multiple Synostoses Syndrome 41
999 MYH012 Myhre Syndrome 41
1000 c FNC057 Fanconi Anemia, Complementation Group U 41
1001 HYP540 Hypertension, Diastolic 41
1002 c BRT038 Baraitser-Winter Syndrome 1 41
1003 c RTN090 Retinitis Pigmentosa 55 41
1004 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
1005 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 41
1006 P CND005 Cone Dystrophy 41
1007 c FNC023 Fanconi Anemia, Complementation Group N 41
1008 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 41
1009 P ANT088 Anterior Segment Dysgenesis 41
1010 c HYP543 Hypoplastic Left Heart Syndrome 1 41
1011 ACR043 Acromicric Dysplasia 41
1012 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 41
1013 c PRK082 Porokeratosis 1, Multiple Types 41
1014 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
1015 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
1016 P GLL032 Galloway-Mowat Syndrome 41
1017 P RRH023 Rare Hereditary Hemochromatosis 41
1018 P MCR124 Microphthalmia, Isolated 1 40
1019 c STC013 Stickler Syndrome, Type Ii 40
1020 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 40
1021 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 40
1022 c VNM003 Van Maldergem Syndrome 1 40
1023 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 40
1024 CHR659 Chromosome 22q11.2 Duplication Syndrome 40
1025 c RTN047 Retinitis Pigmentosa 18 40
1026 INT258 Interstitial Nephritis, Karyomegalic 40
1027 c RTN055 Retinitis Pigmentosa 26 40
1028 c RTN058 Retinitis Pigmentosa 3 40
1029 CRB081 Cerebellar Ataxia, Cayman Type 40
1030 c TRN032 Transient Neonatal Diabetes Mellitus 40
1031 c EPL133 Epilepsy, Juvenile Absence 1 40
1032 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 40
1033 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40
1034 c NML005 Nemaline Myopathy 4 40
1035 c GLL038 Galloway-Mowat Syndrome 1 40
1036 P UVS001 Uv-Sensitive Syndrome 40
1037 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 40
1038 c ATR031 Atrial Septal Defect 4 39
1039 P PST059 Pustular Psoriasis 39
1040 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 39
1041 P MCR364 Macrodactyly 39
1042 c BRD035 Bardet-Biedl Syndrome 15 39
1043 P XNT004 Xanthinuria 39
1044 MGL003 Megalocornea 39
1045 c SYS043 Systemic Lupus Erythematosus 1 39
1046 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 39
1047 HTR014 Heterotaxy, Visceral, 1, X-Linked 39
1048 c PRK093 Parkinson Disease 8, Autosomal Dominant 39
1049 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 39
1050 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 39
1051 c RTN186 Retinitis Pigmentosa 75 39
1052 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
1053 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 39
1054 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 39
1055 c RTN143 Retinitis Pigmentosa 47 39
1056 c RTN043 Retinitis Pigmentosa 13 38
1057 P BRT040 Baraitser-Winter Syndrome 38
1058 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 38
1059 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
1060 c SPL024 Split-Hand/foot Malformation 3 38
1061 c MCK030 Meckel Syndrome, Type 7 38
1062 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 38
1063 P DYS023 Dyschromatosis Universalis Hereditaria 38
1064 c NML006 Nemaline Myopathy 5 38
1065 c NNN024 Noonan Syndrome 9 38
1066 c INF092 Inflammatory Bowel Disease 9 38
1067 c CTR103 Cataract 4, Multiple Types 38
1068 P HRD144 Hereditary Mixed Polyposis Syndrome 38
1069 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 38
1070 c WRB005 Warburg Micro Syndrome 4 38
1071 c ACT004 Acute Diarrhea 38
1072 EPT021 Epithelial Recurrent Erosion Dystrophy 38
1073 c MCK014 Meckel Syndrome, Type 5 38
1074 c CTR132 Cataract 3, Multiple Types 38
1075 c DYS067 Dystonia 6, Torsion 38
1076 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 38
1077 OGD001 Ogden Syndrome 38
1078 CLC008 Colchicine Resistance 38
1079 c RTN048 Retinitis Pigmentosa 19 38
1080 c WRD024 Waardenburg Syndrome, Type 4c 38
1081 P WRB001 Warburg Micro Syndrome 38
1082 DSN001 De Sanctis-Cacchione Syndrome 38
1083 ATM052 Autoimmune Disease 1 38
1084 c EPP012 Epiphyseal Dysplasia, Multiple, 2 38
1085 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 37
1086 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 37
1087 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 37
1088 SRC015 Sarcosinemia 37
1089 c SPN293 Spinocerebellar Ataxia 12 37
1090 ALG027 Al-Gazali-Bakalinova Syndrome 37
1091 P OVR075 Ovarian Dysgenesis 1 37
1092 CRT045 Creatine Phosphokinase, Elevated Serum 37
1093 CMP089 Complement Component 6 Deficiency 37
1094 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 37
1095 c RTN050 Retinitis Pigmentosa 20 37
1096 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
1097 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1098 c SPL070 Split-Hand/foot Malformation 2 37
1099 c LBR007 Leber Congenital Amaurosis 12 37
1100 c MCK033 Meckel Syndrome, Type 4 36
1101 c CND011 Cone Dystrophy 3 36
1102 c XNT011 Xanthinuria, Type Ii 36
1103 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 36
1104 c WLF009 Wolfram Syndrome 2 36
1105 c WRB003 Warburg Micro Syndrome 2 36
1106 c SPL034 Split-Hand/foot Malformation 4 36
1107 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
1108 OLV004 Oliver-Mcfarlane Syndrome 36
1109 GRN055 Granular Corneal Dystrophy 36
1110 c WLL037 Weill-Marchesani Syndrome 2 36
1111 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1112 P FNC026 Fanconi Renotubular Syndrome 1 36
1113 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 36
1114 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
1115 c LBR005 Leber Congenital Amaurosis 10 36
1116 c LBR013 Leber Congenital Amaurosis 3 36
1117 c RTN131 Retinitis Pigmentosa 27 36
1118 P ENC056 Encephalopathy, Acute, Infection-Induced 4 36
1119 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 36
1120 c RTN133 Retinitis Pigmentosa 43 36
1121 c ALZ063 Alzheimer's Disease 1 36
1122 c HTR021 Heterotaxy, Visceral, 5, Autosomal 35
1123 c ELL005 Elliptocytosis 2 35
1124 c RTN062 Retinitis Pigmentosa 33 35
1125 c HLP028 Holoprosencephaly 5 35
1126 P OTF004 Otofaciocervical Syndrome 1 35
1127 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
1128 c LFT021 Left Ventricular Noncompaction 1 35
1129 c RTN136 Retinitis Pigmentosa 44 35
1130 c ATR022 Atrial Septal Defect 3 35
1131 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 35
1132 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 35
1133 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 35
1134 c AML020 Amelogenesis Imperfecta, Type Iv 35
1135 c HYP606 Hypokalemic Periodic Paralysis, Type 2 35
1136 c LKD008 Leukodystrophy, Hypomyelinating, 4 35
1137 c INF089 Inflammatory Bowel Disease 6 35
1138 SPN331 Spondyloocular Syndrome 35
1139 c RTN134 Retinitis Pigmentosa 40 35
1140 c CTR174 Cataract 40 35
1141 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 35
1142 c CTR115 Cataract 16, Multiple Types 35
1143 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 35
1144 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1145 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 35
1146 c CNR023 Cone-Rod Dystrophy 8 35
1147 c NNN020 Noonan Syndrome 7 34
1148 c MYC068 Myoclonic Epilepsy of Infancy 34
1149 c PRK071 Parkinson Disease 14, Autosomal Recessive 34
1150 c GLM025 Glioma Susceptibility 2 34
1151 c SPL025 Split-Hand/foot Malformation 5 34
1152 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 34
1153 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 34
1154 CMB008 Combined Oxidative Phosphorylation Deficiency 34
1155 c RTN165 Retinitis Pigmentosa 68 34
1156 c ALZ050 Alzheimer Disease 5 34
1157 c CTR145 Cataract 44 34
1158 c HMC034 Hemochromatosis, Type 5 34
1159 P MTP005 Metaphyseal Anadysplasia 34
1160 c INF086 Inflammatory Bowel Disease 3 34
1161 c CCK003 Cockayne Syndrome Type Ii 34
1162 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 34
1163 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34
1164 c FNC062 Fanconi Anemia, Complementation Group S 34
1165 c GLM047 Glioma Susceptibility 3 34
1166 CMP040 Complement Component 4, Partial Deficiency of 34
1167 c PRT059 Parietal Foramina 1 34
1168 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 34
1169 P ZMM001 Zimmermann-Laband Syndrome 34
1170 c RTN152 Retinitis Pigmentosa 66 34
1171 c RTN067 Retinitis Pigmentosa 41 34
1172 c ELL006 Elliptocytosis 3 34
1173 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
1174 c PLM127 Pulmonary Hypertension, Primary, 3 33
1175 c ATR062 Atrial Septal Defect 1 33
1176 P LTT001 Lattice Corneal Dystrophy 33
1177 P CHR084 Chromosomal Disease 33
1178 c KRT029 Keratoconus 1 33
1179 c EPL209 Epilepsy, Idiopathic Generalized 10 33
1180 c ACQ047 Acquired Methemoglobinemia 33
1181 c WLL036 Weill-Marchesani Syndrome 1 33
1182 BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 33
1183 c CRN109 Cranioectodermal Dysplasia 2 33
1184 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
1185 P DXT004 Dextro-Looped Transposition of the Great Arteries 33
1186 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1187 c RTN056 Retinitis Pigmentosa 28 33
1188 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
1189 c CCK002 Cockayne Syndrome Type I 33
1190 c NGH007 Night Blindness, Congenital Stationary, Type 1b 33
1191 c MYS076 Myasthenic Syndrome, Congenital, 8 33
1192 c NGH025 Night Blindness, Congenital Stationary, Type 2a 33
1193 c 46X049 46,xy Sex Reversal 2 33
1194 c WLL040 Weill-Marchesani Syndrome 4 33
1195 P INV008 Invasive Pneumococcal Disease, Recurrent Isolated, 1 33
1196 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 33
1197 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33
1198 c ENC060 Encephalopathy, Acute, Infection-Induced 1 33
1199 c HRD142 Hereditary Xanthinuria 33
1200 c ACR081 Aicardi-Goutieres Syndrome 6 33
1201 c RTN129 Retinitis Pigmentosa 49 32
1202 c RTN059 Retinitis Pigmentosa 30 32
1203 MST021 Meester-Loeys Syndrome 32
1204 c MYS067 Myasthenic Syndrome, Congenital, 22 32
1205 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 32
1206 MYP035 Myopathy, Distal, with Anterior Tibial Onset 32
1207 c SPN099 Spinocerebellar Ataxia 26 32
1208 ALZ030 Alazami Syndrome 32
1209 ALR002 Al-Raqad Syndrome 32
1210 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 32
1211 c BRC062 Brachydactyly, Type D 32
1212 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 32
1213 c THY084 Thyrotoxic Periodic Paralysis 1 32
1214 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 32
1215 c MYS056 Myasthenic Syndrome, Congenital, 17 32
1216 MTP028 Metaphyseal Dysplasia, Spahr Type 32
1217 c RBN008 Rubinstein-Taybi Syndrome 2 32
1218 c BRG006 Brugada Syndrome 2 32
1219 c DRR009 Diarrhea 6 32
1220 HYD007 Hydrophthalmos 32
1221 c JVN024 Juvenile Hereditary Hemochromatosis 32
1222 c LBR015 Leber Congenital Amaurosis 5 32
1223 c BTH006 Bethlem Myopathy 2 32
1224 INC022 Inclusion-Cell Disease 32
1225 c INF088 Inflammatory Bowel Disease 5 32
1226 c RRD013 Rare Diabetes Mellitus Type 2 32
1227 HYP823 Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 32
1228 BMB001 Bombay Phenotype 32
1229 c RTN169 Retinitis Pigmentosa 70 31
1230 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 31
1231 CHN019 Chand Syndrome 31
1232 c ELL010 Elliptocytosis 1 31
1233 MLC004 Mulchandani-Bhoj-Conlin Syndrome 31
1234 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 31
1235 ATX039 Ataxia-Pancytopenia Syndrome 31
1236 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 31
1237 c PRX060 Peroxisome Biogenesis Disorder 5a 31
1238 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 31
1239 P ATX033 Ataxia-Oculomotor Apraxia 4 31
1240 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 31
1241 c RTN052 Retinitis Pigmentosa 23 31
1242 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 31
1243 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
1244 c RTN051 Retinitis Pigmentosa 22 31
1245 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 31
1246 P RTS001 Ritscher-Schinzel Syndrome 31
1247 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
1248 CLR132 Colorblindness, Partial, Deutan Series 31
1249 c INF087 Inflammatory Bowel Disease 4 31
1250 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 31
1251 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31
1252 c RTN116 Retinitis Pigmentosa 56 31
1253 SLT005 Solitary Median Maxillary Central Incisor 31
1254 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 31
1255 c HYP515 Hypotrichosis 3 31
1256 c PRX051 Peroxisome Biogenesis Disorder 6a 31
1257 LSC003 Luscan-Lumish Syndrome 31
1258 c GLY057 Glycogen Storage Disease X 31
1259 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 31
1260 c DSB005 Desbuquois Dysplasia 2 30
1261 c THY083 Thyrotoxic Periodic Paralysis 2 30
1262 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 30
1263 c RTN141 Retinitis Pigmentosa 39 30
1264 c MCR137 Microphthalmia, Isolated 2 30
1265 c MCK034 Meckel Syndrome, Type 8 30
1266 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
1267 c RTN114 Retinitis Pigmentosa 58 30
1268 CRT069 Cortical Malformations, Occipital 30
1269 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 30
1270 c BRT039 Baraitser-Winter Syndrome 2 30
1271 c AXN012 Axenfeld-Rieger Syndrome, Type 2 30
1272 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 30
1273 c ATS076 Autosomal Recessive Stickler Syndrome 30
1274 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 30
1275 CHT006 Chitayat Syndrome 30
1276 c GLP004 Geleophysic Dysplasia 2 30
1277 SPC026 Specific Granule Deficiency 1 30
1278 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 30
1279 TRN074 Turnpenny-Fry Syndrome 30
1280 CRB137 Cerebral Creatine Deficiency Syndrome 30
1281 c FML299 Familial Adenomatous Polyposis 3 30
1282 P NYS017 Nystagmus 1, Congenital, X-Linked 30
1283 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
1284 c RTN160 Retinitis Pigmentosa 60 30
1285 c PRX054 Peroxisome Biogenesis Disorder 12a 30
1286 c AMY089 Amyotrophic Lateral Sclerosis 7 30
1287 P VNM004 Van Maldergem Syndrome 30
1288 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
1289 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
1290 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 30
1291 c CRN209 Cornelia De Lange Syndrome 5 30
1292 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30
1293 c ALC016 Alcohol Sensitivity, Acute 30
1294 c SPN286 Spinocerebellar Ataxia 40 30
1295 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 29
1296 ACR096 Acromesomelic Dysplasia, Demirhan Type 29
1297 c STR040 Stargardt Disease 3 29
1298 c MYP088 Myopathy, Tubular Aggregate, 2 29
1299 c HRD146 Hereditary Methemoglobinemia 29
1300 c JBR031 Joubert Syndrome 21 29
1301 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 29
1302 P CRN249 Cornea Plana 29
1303 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 29
1304 c GLM043 Glioma Susceptibility 9 29
1305 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1306 c TYP027 Type 1 Diabetes Mellitus 10 29
1307 c INF078 Inflammatory Bowel Disease 2 29
1308 c USH031 Usher Syndrome, Type Ij 29
1309 c KBK003 Kabuki Syndrome 2 29
1310 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 29
1311 ALZ029 Alzheimer Disease Mitochondrial 29
1312 c HLP025 Holoprosencephaly 9 29
1313 PRT101 Poretti-Boltshauser Syndrome 29
1314 c PRG094 Paragangliomas 5 29
1315 c CWD008 Cowden Syndrome 6 29
1316 c TYP032 Type 1 Diabetes Mellitus 6 29
1317 c SYN061 Syndactyly, Type Iv 29
1318 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 29
1319 c HYP843 Hypoalphalipoproteinemia, Primary, 2 29
1320 MYC071 Myoclonic-Atonic Epilepsy 29
1321 ALK023 Al Kaissi Syndrome 29
1322 XLN228 X-Linked Recessive Disease 29
1323 c GLY017 Glycogen Storage Disease Ic 29
1324 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1325 c SVR040 Severe Congenital Nemaline Myopathy 29
1326 c PLM128 Pulmonary Hypertension, Primary, 2 29
1327 c EPL200 Epilepsy, Childhood Absence 1 29
1328 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 29
1329 c CTR095 Cataract 8, Multiple Types 29
1330 c PRX055 Peroxisome Biogenesis Disorder 11a 29
1331 c CRN215 Cornelia De Lange Syndrome 4 28
1332 c MLG151 Malignant Hyperthermia 5 28
1333 c JBR013 Joubert Syndrome 8 28
1334 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 28
1335 c JBR016 Joubert Syndrome 10 28
1336 DSN002 Desanto-Shinawi Syndrome 28
1337 c ATS371 Autism 6 28
1338 c MCR329 Microcephaly, Autosomal Dominant 28
1339 c LSS009 Lissencephaly 3 28
1340 c GLL040 Galloway-Mowat Syndrome 3 28
1341 c DRR018 Diarrhea 9 28
1342 c STR101 Striatal Degeneration, Autosomal Dominant 1 28
1343 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
1344 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
1345 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
1346 c RTN057 Retinitis Pigmentosa 29 28
1347 c CND012 Cone Dystrophy 4 28
1348 c MCK035 Meckel Syndrome, Type 10 28
1349 c PTT030 Pitt-Hopkins-Like Syndrome 2 28
1350 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 28
1351 c OVR076 Ovarian Dysgenesis 2 28
1352 c NNS043 Nonsyndromic Retinitis Pigmentosa 28
1353 c CTR175 Cataract 24 28
1354 CMP087 Complement Component 7 Deficiency 28
1355 c SYN060 Syndactyly, Type Iii 28
1356 STR099 Striatonigral Degeneration, Infantile, Mitochondrial 28
1357 MTR001 Mature Cataract 28
1358 MYP120 Myopathy, Distal, with Rimmed Vacuoles 28
1359 RNL118 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 28
1360 c CTR166 Cataract 33, Multiple Types 28
1361 c RTN068 Retinitis Pigmentosa 6 28
1362 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
1363 c PRX043 Peroxisome Biogenesis Disorder 6b 28
1364 c 46X048 46,xx Sex Reversal 2 28
1365 c INF002 Inflammatory Diarrhea 28
1366 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 28
1367 c CLR066 Ciliary Dyskinesia, Primary, 2 28
1368 c TYP035 Type 1 Diabetes Mellitus 11 28
1369 c NML007 Nemaline Myopathy 6 28
1370 c FRN033 Frontonasal Dysplasia 2 28
1371 c RTN106 Retinitis Pigmentosa 51 28
1372 CMB044 Combined Oxidative Phosphorylation Deficiency 14 28
1373 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 28
1374 c SPN247 Spinocerebellar Ataxia Type 19/22 28
1375 P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 28
1376 c NGH027 Night Blindness, Congenital Stationary, Type 1c 28
1377 c PRK052 Parkinson Disease 17 28
1378 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 28
1379 c MCK028 Meckel Syndrome 13 28
1380 c PRT060 Parietal Foramina 2 28
1381 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 28
1382 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 27
1383 c EPL134 Epilepsy, Progressive Myoclonic 7 27
1384 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 27
1385 VSD001 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 27
1386 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27
1387 c INT274 Intermediate Congenital Nemaline Myopathy 27
1388 c HLP027 Holoprosencephaly 7 27
1389 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
1390 c HYP577 Hypotrichosis 13 27
1391 c CLR090 Ciliary Dyskinesia, Primary, 22 27
1392 c CRN174 Coronary Heart Disease 2 27
1393 c EPL210 Epilepsy, Progressive Myoclonic, 6 27
1394 c TRC073 Treacher Collins Syndrome 2 27
1395 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 27
1396 c CLR094 Ciliary Dyskinesia, Primary, 28 27
1397 c RTN060 Retinitis Pigmentosa 31 27
1398 c SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 27
1399 c CLR114 Ciliary Dyskinesia, Primary, 30 27
1400 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1401 c AMY022 Amyotrophic Lateral Sclerosis Type 5 27
1402 c TYP037 Type 1 Diabetes Mellitus 13 27
1403 c TYP033 Type 1 Diabetes Mellitus 7 27
1404 P TRG016 Trigonocephaly 1 27
1405 ECT033 Ectopia Lentis Et Pupillae 27
1406 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 27
1407 c CTR158 Cataract 37 27
1408 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 27
1409 c ATS376 Autism 15 27
1410 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 27
1411 CRD220 Cardiac Valvular Defect, Developmental 27
1412 c ATS210 Autosomal Recessive Sideroblastic Anemia 27
1413 c TYP028 Type 1 Diabetes Mellitus 2 27
1414 CMP093 Complement Component 8 Deficiency, Type I 27
1415 c INF075 Inflammatory Bowel Disease 16 27
1416 c USH030 Usher Syndrome, Type Ik 27
1417 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
1418 c PRR026 Perrault Syndrome 5 27
1419 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 27
1420 c CRN135 Cornelia De Lange Syndrome 3 27
1421 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
1422 c LBR010 Leber Congenital Amaurosis 15 27
1423 c RTN190 Retinitis Pigmentosa 76 27
1424 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 27
1425 c HLP016 Holoprosencephaly 11 27
1426 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 27
1427 c RTN140 Retinitis Pigmentosa 67 27
1428 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 27
1429 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 27
1430 c LBR029 Leber Congenital Amaurosis 17 27
1431 c ENC061 Encephalopathy, Acute, Infection-Induced 2 27
1432 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 27
1433 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 27
1434 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
1435 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 27
1436 MLR020 Malaria, Mild 27
1437 c SCH081 Schizophrenia 6 27
1438 c BRD050 Bardet-Biedl Syndrome 21 27
1439 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
1440 CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 27
1441 c MCR212 Microphthalmia, Syndromic 12 26
1442 c MRG010 Meier-Gorlin Syndrome 3 26
1443 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
1444 c PRX058 Peroxisome Biogenesis Disorder 4b 26
1445 c DYS172 Dystonia 27 26
1446 c CLR125 Ciliary Dyskinesia, Primary, 33 26
1447 c RTN085 Retinitis Pigmentosa 54 26
1448 c CRN111 Cranioectodermal Dysplasia 4 26
1449 c PTN012 Patent Ductus Arteriosus 3 26
1450 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 26
1451 c PRK075 Porokeratosis 7, Multiple Types 26
1452 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
1453 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 26
1454 c GLY001 Glycogen Storage Disease Ix 26
1455 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 26
1456 c EPL207 Epilepsy, Progressive Myoclonic, 1b 26
1457 3MC004 3mc Syndrome 3 26
1458 c 46X030 46,xy Sex Reversal 9 26
1459 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 26
1460 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 26
1461 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 26
1462 c CLR095 Ciliary Dyskinesia, Primary, 19 26
1463 CHR391 Chromosome 15q24 Deletion Syndrome 26
1464 c CTR180 Cataract 22, Multiple Types 26
1465 c CLR042 Ciliary Dyskinesia, Primary, 6 26
1466 c TYP031 Type 1 Diabetes Mellitus 5 26
1467 HMX003 Heme Oxygenase 1 Deficiency 26
1468 c ATR047 Atrioventricular Septal Defect 2 26
1469 c FML339 Familial Adenomatous Polyposis 4 26
1470 c 46X017 46,xy Sex Reversal 6 26
1471 c CWD004 Cowden Syndrome 5 26
1472 c INF090 Inflammatory Bowel Disease 7 26
1473 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
1474 c GLL027 Gallbladder Disease 4 26
1475 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 26
1476 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 26
1477 INS034 Insulinomatosis and Diabetes Mellitus 26
1478 c SNR004 Senior-Loken Syndrome 4 26
1479 c CNR032 Cone-Rod Dystrophy 21 26
1480 c TRC100 Trichothiodystrophy 3, Photosensitive 26
1481 c CRN110 Cranioectodermal Dysplasia 3 26
1482 c DMN006 Diamond-Blackfan Anemia 3 26
1483 c CLR097 Ciliary Dyskinesia, Primary, 23 26
1484 c CRD163 Cardiofaciocutaneous Syndrome 2 26
1485 GLT028 Glutaric Aciduria Iii 26
1486 c WRB004 Warburg Micro Syndrome 3 26
1487 c MRG015 Meier-Gorlin Syndrome 7 26
1488 c CLR134 Ciliary Dyskinesia, Primary, 3 26
1489 PRT130 Protein Z Deficiency 26
1490 c RTN213 Retinitis Pigmentosa 80 26
1491 c CLR123 Ciliary Dyskinesia, Primary, 37 26
1492 FCT032 Factor Xiii, a Subunit, Deficiency of 26
1493 c MYS064 Myasthenic Syndrome, Congenital, 16 26
1494 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
1495 c CLR117 Ciliary Dyskinesia, Primary, 32 25
1496 c BRN128 Branchiootic Syndrome 3 25
1497 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25
1498 c CFF011 Coffin-Siris Syndrome 6 25
1499 c DYS121 Dyslexia 1 25
1500 c DMN022 Diamond-Blackfan Anemia 9 25
1501 c WLL038 Weill-Marchesani Syndrome 3 25
1502 c CNG223 Congenital Methemoglobinemia 25
1503 c BRC099 Brachydactyly, Type A4 25
1504 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
1505 c RTN053 Retinitis Pigmentosa 24 25
1506 c MCL038 Macular Degeneration, Age-Related, 4 25
1507 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
1508 c SPN418 Spinocerebellar Ataxia 44 25
1509 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 25
1510 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 25
1511 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1512 CMB049 Combined Oxidative Phosphorylation Deficiency 17 25
1513 c CRN214 Coronary Heart Disease 5 25
1514 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1515 c MCR109 Microphthalmia, Isolated 4 25
1516 c PRM089 Premature Ovarian Failure 3 25
1517 c PRM254 Premature Ovarian Failure 11 25
1518 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 25
1519 c CTR116 Cataract 15, Multiple Types 25
1520 AML014 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 25
1521 c DYS139 Dyschromatosis Universalis Hereditaria 3 25
1522 c HML035 Hemolytic Uremic Syndrome, Atypical 2 25
1523 c TRG015 Trigonocephaly 2 25
1524 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
1525 P NNP011 Nanophthalmos 2 25
1526 c CLR116 Ciliary Dyskinesia, Primary, 29 25
1527 P CRT085 Carotid Intimal Medial Thickness 2 25
1528 c ALT007 Alternating Hemiplegia of Childhood 2 25
1529 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 25
1530 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 25
1531 c DMN019 Diamond-Blackfan Anemia 4 25
1532 c JBR043 Joubert Syndrome 32 25
1533 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 25
1534 c SYS038 Systemic Lupus Erythematosus 2 25
1535 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 25
1536 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
1537 c FRS016 Fraser Syndrome 2 25
1538 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
1539 c CWD009 Cowden Syndrome 7 25
1540 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 25
1541 P ADP010 Adiponectin, Serum Level of, Quantitative Trait Locus 1 25
1542 c PRC045 Preeclampsia/eclampsia 5 25
1543 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
1544 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 25
1545 MYP073 Myopia, High, with Cataract and Vitreoretinal Degeneration 25
1546 c XLN065 X-Linked Infantile Nystagmus 25
1547 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 25
1548 c TTH012 Tooth Agenesis, Selective, 3 25
1549 DYS190 Dystonia 28, Childhood-Onset 25
1550 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
1551 c PRR021 Perrault Syndrome 4 25
1552 c AML047 Amelogenesis Imperfecta, Type Ia 25
1553 c TYP003 Type I Ehlers-Danlos Syndrome 25
1554 c HML034 Hemolytic Uremic Syndrome, Atypical 3 25
1555 c CLR098 Ciliary Dyskinesia, Primary, 27 25
1556 c RTN065 Retinitis Pigmentosa 36 25
1557 c HYP576 Hypotrichosis 4 25
1558 c TRC071 Treacher Collins Syndrome 3 25
1559 c CLR104 Ciliary Dyskinesia, Primary, 15 25
1560 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 25
1561 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 25
1562 c MYS077 Myasthenic Syndrome, Congenital, 15 25
1563 c MRG011 Meier-Gorlin Syndrome 4 24
1564 c CRD167 Cardiofaciocutaneous Syndrome 4 24
1565 MCR327 Microcephaly, Short Stature, and Limb Abnormalities 24
1566 CHR366 Chromosome 5p13 Duplication Syndrome 24
1567 NWF001 Newfoundland Rod-Cone Dystrophy 24
1568 c JBR040 Joubert Syndrome 30 24
1569 c ART102 Arterial Calcification, Generalized, of Infancy, 2 24
1570 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 24
1571 P MCL058 Macular Degeneration, Early-Onset 24
1572 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
1573 c CRN160 Corneal Dystrophy, Lattice Type Iiia 24
1574 c TRM024 Tremor, Hereditary Essential, 1 24
1575 c CTR131 Cataract 17, Multiple Types 24
1576 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 24
1577 MTC149 Mitochondrial Complex I Deficiency, Mitochondrial Type 1 24
1578 STR093 Striatonigral Degeneration, Childhood-Onset 24
1579 c ATS370 Autism 3 24
1580 AML013 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 24
1581 c PRX062 Peroxisome Biogenesis Disorder 8b 24
1582 c DMN020 Diamond-Blackfan Anemia 8 24
1583 c CTR182 Cataract 23, Multiple Types 24
1584 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 24
1585 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
1586 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1587 c CLR136 Ciliary Dyskinesia, Primary, 9 24
1588 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 24
1589 c HMC019 Hemochromatosis, Type 2b 24
1590 c CLR140 Ciliary Dyskinesia, Primary, 40 24
1591 c CTR111 Cataract 36 24
1592 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 24
1593 FBR097 Fibrosis, Neurodegeneration, and Cerebral Angiomatosis 24
1594 c JBR037 Joubert Syndrome 26 24
1595 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 24
1596 CMB071 Combined Oxidative Phosphorylation Deficiency 27 24
1597 SDH011 Sedoheptulokinase Deficiency 24
1598 c CTR124 Cataract 10, Multiple Types 24
1599 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 24
1600 c EPL212 Epileptic Encephalopathy, Infantile or Early Childhood, 1 24
1601 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 24
1602 c ATR067 Atrioventricular Septal Defect 4 24
1603 c CLR091 Ciliary Dyskinesia, Primary, 14 24
1604 c BRN075 Bronchiectasis with or Without Elevated Sweat Chloride 2 24
1605 c CTR165 Cataract 19, Multiple Types 24
1606 c LPR007 Leopard Syndrome 3 24
1607 c CHR449 Choroidal Dystrophy, Central Areolar 2 24
1608 ACT240 Actn3 Deficiency 24
1609 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 24
1610 HRS016 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 24
1611 KRT074 Keratoendotheliitis Fugax Hereditaria 24
1612 c MLG148 Malignant Hyperthermia 2 24
1613 c MYM003 Moyamoya Disease 5 24
1614 c ERL003 Early Onset Absence Epilepsy 24
1615 c CLR099 Ciliary Dyskinesia, Primary, 16 24
1616 CMB043 Combined Oxidative Phosphorylation Deficiency 9 24
1617 c CRD164 Cardiofaciocutaneous Syndrome 3 24
1618 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
1619 c MCK026 Meckel Syndrome 12 24
1620 c ARC011 Auriculocondylar Syndrome 2 24
1621 c CHR565 Chromosomal Deletion Syndrome 24
1622 c CLR092 Ciliary Dyskinesia, Primary, 18 24
1623 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
1624 c SCH053 Schizophrenia 13 24
1625 c DMN005 Diamond-Blackfan Anemia 2 24
1626 c NGH028 Night Blindness, Congenital Stationary, Type 1d 24
1627 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 24
1628 c CTR105 Cataract 12, Multiple Types 24
1629 c CRN280 Cornea Plana 2, Autosomal Recessive 24
1630 c 46X047 46,xy Sex Reversal 7 24
1631 c CNR012 Cone-Rod Dystrophy 11 24
1632 c OTF003 Otofaciocervical Syndrome 2 24
1633 c CNR026 Cone-Rod Dystrophy 18 24
1634 GRW027 Growth Restriction, Severe, with Distinctive Facies 24
1635 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 24
1636 c FNC061 Fanconi Anemia, Complementation Group W 24
1637 c PRK070 Parkinson Disease 21 24
1638 c CLR105 Ciliary Dyskinesia, Primary, 20 24
1639 c RTN147 Retinitis Pigmentosa 48 24
1640 c PRC034 Preeclampsia/eclampsia 4 24
1641 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 24
1642 c ART112 Arthrogryposis, Distal, Type 10 23
1643 c MRG009 Meier-Gorlin Syndrome 2 23
1644 c HML032 Hemolytic Uremic Syndrome, Atypical 4 23
1645 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1646 c WSK002 Wiskott-Aldrich Syndrome 2 23
1647 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 23
1648 c RTS002 Ritscher-Schinzel Syndrome 2 23
1649 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 23
1650 c SNR007 Senior-Loken Syndrome 7 23
1651 c MRG014 Meier-Gorlin Syndrome 6 23
1652 c CNG478 Congenital Diarrhea 23
1653 ACT133 Acetylation, Slow 23
1654 c SHR113 Short-Rib Thoracic Dysplasia 18 with Polydactyly 23
1655 c DYS068 Dystonia 7, Torsion 23
1656 c CTR110 Cataract 26, Multiple Types 23
1657 c GLP007 Geleophysic Dysplasia 3 23
1658 c ATR071 Atrioventricular Septal Defect 5 23
1659 CHR379 Chromosome 15q26-Qter Deletion Syndrome 23
1660 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
1661 c CLR059 Ciliary Dyskinesia, Primary, 13 23
1662 c CNG404 Congenital Heart Defects, Multiple Types, 4 23
1663 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 23
1664 c SCH045 Schizophrenia 12 23
1665 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
1666 c TYP036 Type 1 Diabetes Mellitus 12 23
1667 c NML021 Nemaline Myopathy 9 23
1668 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
1669 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 23
1670 RHN013 Rh-Null, Regulator Type 23
1671 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 23
1672 SRN001 Serine Deficiency 23
1673 c DWL003 Dowling-Degos Disease 2 23
1674 c HTR018 Heterotaxy, Visceral, 7, Autosomal 23
1675 c EPL084 Epilepsy, Idiopathic Generalized 11 23
1676 c CLR102 Ciliary Dyskinesia, Primary, 17 23
1677 c CTR183 Cataract 38 23
1678 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
1679 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 23
1680 c RTN144 Retinitis Pigmentosa 61 23
1681 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 23
1682 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 23
1683 c GLL041 Galloway-Mowat Syndrome 4 23
1684 c CFF006 Coffin-Siris Syndrome 5 23
1685 P PRX064 Peroxisome Biogenesis Disorder 2b 23
1686 c MYP116 Myopathy, Distal, 5 23
1687 c RTN192 Retinitis Pigmentosa 77 23
1688 c HTR023 Heterotaxy, Visceral, 6, Autosomal 23
1689 c RTN180 Retinitis Pigmentosa 74 23
1690 c DYS120 Dyslexia 2 23
1691 c GLL046 Galloway-Mowat Syndrome 7 23
1692 c HLP022 Holoprosencephaly 8 23
1693 c PRM207 Premature Ovarian Failure 10 23
1694 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 23
1695 c EPL205 Epilepsy, Idiopathic Generalized 13 23
1696 P RTN102 Retinitis Pigmentosa, Y-Linked 23
1697 c UVS005 Uv-Sensitive Syndrome 1 23
1698 c OVR107 Ovarian Dysgenesis 4 23
1699 c SCK037 Seckel Syndrome 9 23
1700 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 23
1701 c JBR047 Joubert Syndrome 35 23
1702 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
1703 c LPR011 Leopard Syndrome 2 23
1704 c CLR107 Ciliary Dyskinesia, Primary, 24 23
1705 CMP091 Complement Component C1s Deficiency 23
1706 c CTR125 Cataract 7 23
1707 c CLR106 Ciliary Dyskinesia, Primary, 26 23
1708 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 23
1709 c D2H003 D-2-Hydroxyglutaric Aciduria 2 23
1710 c CLR139 Ciliary Dyskinesia, Primary, 39 23
1711 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 23
1712 c RTN166 Retinitis Pigmentosa 69 23
1713 SNJ002 Snijders Blok-Campeau Syndrome 23
1714 c SHR116 Short-Rib Thoracic Dysplasia 20 with Polydactyly 23
1715 CRB204 Cerebellar, Ocular, Craniofacial, and Genital Syndrome 23
1716 c CCK004 Cockayne Syndrome Type Iii 23
1717 c SCK038 Seckel Syndrome 10 23
1718 c ANM034 Anemia, Sideroblastic, 4 23
1719 CMP063 Complement Factor B Deficiency 23
1720 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
1721 CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 22
1722 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
1723 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
1724 c PRM295 Premature Ovarian Failure 15 22
1725 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 22
1726 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
1727 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
1728 c ATS378 Autism 17 22
1729 c TYP034 Type 1 Diabetes Mellitus 8 22
1730 c 46X058 46,xy Sex Reversal 10 22
1731 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
1732 INS015 Inosine Triphosphatase Deficiency 22
1733 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 22
1734 c 46X056 46,xy Sex Reversal 5 22
1735 c MYM004 Moyamoya Disease 2 22
1736 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 22
1737 c ANX008 Anauxetic Dysplasia 2 22
1738 c PRM192 Premature Ovarian Failure 8 22
1739 c STC012 Stickler Syndrome, Type Iv 22
1740 c CTR162 Cataract 47 22
1741 c CLR054 Ciliary Dyskinesia, Primary, 12 22
1742 c HYP519 Hyperekplexia 3 22
1743 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 22
1744 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 22
1745 c AML048 Amelogenesis Imperfecta, Type Ih 22
1746 SHR065 Short Stature with Microcephaly and Distinctive Facies 22
1747 c CTR169 Cataract 29 22
1748 c DMN029 Diamond-Blackfan Anemia 11 22
1749 c JBR038 Joubert Syndrome 27 22
1750 c CLR053 Ciliary Dyskinesia, Primary, 11 22
1751 CHT005 Chitotriosidase Deficiency 22
1752 c DPH016 Diaphragmatic Hernia 3 22
1753 c CTR184 Cataract 39, Multiple Types 22
1754 c MYS070 Myasthenic Syndrome, Congenital, 19 22
1755 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
1756 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 22
1757 CMP094 Complement Component 4b Deficiency 22
1758 c SPN419 Spinocerebellar Ataxia 45 22
1759 c MCL030 Macular Degeneration, Age-Related, 10 22
1760 c CNR030 Cone-Rod Dystrophy 20 22
1761 DVL021 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 22
1762 c GLC054 Glaucoma 3, Primary Congenital, D 22
1763 c PRM091 Premature Ovarian Failure 2b 22
1764 c SYS040 Systemic Lupus Erythematosus 10 22
1765 c JBR044 Joubert Syndrome 31 22
1766 c PTN013 Patent Ductus Arteriosus 2 22
1767 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 22
1768 ERY039 Erythrocyte Amp Deaminase Deficiency 22
1769 c ADL068 Adult-Onset Nemaline Myopathy 22
1770 c CNG520 Congenital Heart Defects, Multiple Types, 6 22
1771 c CLR101 Ciliary Dyskinesia, Primary, 25 22
1772 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
1773 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 22
1774 MCR326 Microcephaly-Micromelia Syndrome 22
1775 c LTH032 Lethal Congenital Contracture Syndrome 7 22
1776 c MRG012 Meier-Gorlin Syndrome 5 22
1777 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1778 MTC165 Mitochondrial Complex I Deficiency, Nuclear Type 18 22
1779 GLL039 Galloway-Mowat Syndrome 2, X-Linked 22
1780 c PRM094 Premature Ovarian Failure 5 22
1781 P HML046 Heimler Syndrome 2 22
1782 c FRS015 Fraser Syndrome 3 22
1783 c EPP009 Epiphyseal Dysplasia, Multiple, 6 22
1784 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 22
1785 c CLR056 Ciliary Dyskinesia, Primary, 10 22
1786 c ART156 Arthrogryposis, Distal, Type 2b2 22
1787 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
1788 c MCK020 Meckel Syndrome, Type 11 22
1789 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 22
1790 c CLR138 Ciliary Dyskinesia, Primary, 38 22
1791 c MCR214 Microphthalmia, Isolated, with Coloboma 9 22
1792 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 22
1793 c TYP038 Type 1 Diabetes Mellitus 15 22
1794 c INF072 Inflammatory Bowel Disease 11 22
1795 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1796 c CTR187 Cataract 48 22
1797 c HYP578 Hypotrichosis 12 22
1798 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
1799 NCT013 N-Acetylaspartate Deficiency 22
1800 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1801 c RDC016 Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset 22
1802 c EPL214 Epileptic Encephalopathy, Infantile or Early Childhood, 2 22
1803 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1804 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 22
1805 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1806 c EPL137 Epilepsy, Childhood Absence 6 22
1807 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 22
1808 c TWN010 Townes-Brocks Syndrome 2 21
1809 TWN007 Twinning, Dizygotic 21
1810 c EPP026 Epiphyseal Dysplasia, Multiple, 7 21
1811 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
1812 c EPL136 Epilepsy, Childhood Absence 5 21
1813 c PRM090 Premature Ovarian Failure 6 21
1814 c DMN028 Diamond-Blackfan Anemia 12 21
1815 CMB013 Combined Oxidative Phosphorylation Deficiency 2 21
1816 THR113 Thiourea Tasting 21
1817 c LTH029 Lethal Congenital Contracture Syndrome 9 21
1818 c CNG521 Congenital Heart Defects, Multiple Types, 5 21
1819 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 21
1820 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 21
1821 c GLL042 Galloway-Mowat Syndrome 5 21
1822 c ART157 Arthrogryposis, Distal, Type 2b3 21
1823 c MLG149 Malignant Hyperthermia 3 21
1824 c TYP030 Type 1 Diabetes Mellitus 4 21
1825 RBN013 Robinow-Sorauf Syndrome 21
1826 c CWD005 Cowden Syndrome 4 21
1827 c KLF005 Kleefstra Syndrome 2 21
1828 c DYS175 Dystonia 26, Myoclonic 21
1829 c MCR217 Microphthalmia, Syndromic 11 21
1830 c EPL093 Epilepsy, Idiopathic Generalized 7 21
1831 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 21
1832 TNR001 Tenorio Syndrome 21
1833 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 21
1834 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 21
1835 c TYP039 Type 1 Diabetes Mellitus 17 21
1836 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 21
1837 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 21
1838 c BRN077 Bronchiectasis with or Without Elevated Sweat Chloride 3 21
1839 CNG512 Congenital Disorder of Glycosylation, Type Iaa 21
1840 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 21
1841 c THR096 Three M Syndrome 3 21
1842 SDD009 Sudden Cardiac Failure, Infantile 21
1843 c OVR119 Ovarian Dysgenesis 7 21
1844 c MLG150 Malignant Hyperthermia 4 21
1845 c STC007 Stickler Syndrome, Type 3 21
1846 c ENC037 Encephalopathy, Acute, Infection-Induced 6 21
1847 c RTN130 Retinitis Pigmentosa 46 21
1848 c 46X059 46,xx Sex Reversal 4 21
1849 c GLL047 Galloway-Mowat Syndrome 8 21
1850 CMB087 Combined Oxidative Phosphorylation Deficiency 37 21
1851 c BRC108 Brachydactyly, Type A3 21
1852 c RTN117 Retinitis Pigmentosa 57 21
1853 c ATM050 Autoimmune Thyroid Disease 3 21
1854 c LFT020 Left Ventricular Noncompaction 7 21
1855 c BLP049 Blepharocheilodontic Syndrome 2 21
1856 c SCK033 Seckel Syndrome 8 21
1857 c LTT008 Lattice Corneal Dystrophy Type Ii 21
1858 c MCK036 Meckel Syndrome, Type 9 21
1859 c TYP040 Type 1 Diabetes Mellitus 18 21
1860 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 21
1861 BRC106 Brachycephaly, Trichomegaly, and Developmental Delay 21
1862 c BRC075 Brachydactyly, Type A1, C 21
1863 c HTR020 Heterotaxy, Visceral, 8, Autosomal 21
1864 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1865 c EPL086 Epilepsy, Idiopathic Generalized 9 21
1866 c CNR029 Cone-Rod Dystrophy 19 21
1867 c ATS377 Autism 16 21
1868 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
1869 c AML059 Amelogenesis Imperfecta, Type Ij 21
1870 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
1871 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 21
1872 c MLT078 Multiple Synostoses Syndrome 3 21
1873 c CLC046 Celiac Disease 5 21
1874 c DWL004 Dowling-Degos Disease 4 21
1875 c EXD010 Exudative Vitreoretinopathy 6 21
1876 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 21
1877 c STC011 Stickler Syndrome, Type V 21
1878 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
1879 c ATS369 Autism 8 20
1880 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 20
1881 DGN006 Digenic Disease 20
1882 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 20
1883 c LTH026 Lethal Congenital Contracture Syndrome 4 20
1884 c SYM019 Symphalangism, Proximal, 1b 20
1885 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 20
1886 INT328 Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities 20
1887 c OVR115 Ovarian Dysgenesis 5 20
1888 MTC162 Mitochondrial Complex I Deficiency, Nuclear Type 15 20
1889 INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 20
1890 c CNG511 Congenital Heart Defects, Multiple Types, 2 20
1891 PLY167 Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive 20
1892 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 20
1893 MTC147 Mitochondrial Complex I Deficiency, Nuclear Type 12 20
1894 c RTN195 Retinitis Pigmentosa 79 20
1895 c MLT124 Multiple Sclerosis 5 20
1896 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 20
1897 c LTH031 Lethal Congenital Contracture Syndrome 6 20
1898 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 20
1899 c CTR119 Cataract 32, Multiple Types 20
1900