Genetic Diseases Category (7415 diseases)


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

# Family MCID Name MIFTS
1 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 57
2 FML026 Familial Lipoprotein Lipase Deficiency 53
3 AMY082 Amyloidosis, Familial Visceral 50
4 P FML018 Familial Mediterranean Fever 72
5 FML089 Familial Thoracic Aortic Aneurysm and Dissection 51
6 P MLT048 Multiple Familial Trichoepithelioma 31
7 P FML011 Familial Adenomatous Polyposis 72
8 c FML346 Familial Adenomatous Polyposis 1 64
9 P SZR006 Seizure Disorder 58
10 c SZR007 Seizures, Benign Familial Infantile, 3 47
11 c PRG126 Progressive Familial Heart Block 51
12 P HRT035 Heart Block, Congenital 47
13 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
14 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 44
15 P HYP607 Hypercholesterolemia, Familial 81
16 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 45
17 HYP190 Hypoalphalipoproteinemia, Primary 60
18 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
19 c SZR014 Seizures, Benign Familial Infantile, 1 26
20 c LPD015 Lipodystrophy, Familial Partial, Type 2 56
21 c LPD019 Lipodystrophy, Partial, Acquired 42
22 c PRG042 Progressive Familial Heart Block, Type Ia 60
23 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
24 BNG006 Benign Familial Neonatal Epilepsy 41
25 P PLY018 Polycythemia 60
26 c PRM012 Primary Polycythemia 52
27 c ACQ010 Acquired Polycythemia 43
28 c ATS209 Autosomal Dominant Secondary Polycythemia 20
29 c PLY005 Polycythemia Due to Hypoxia 6
30 P BNG026 Benign Neonatal Seizures 42
31 FTL002 Fatal Familial Insomnia 46
32 P FML052 Familial Cold Autoinflammatory Syndrome 53
33 P EPS030 Episodic Kinesigenic Dyskinesia 1 50
34 c MYC068 Myoclonic Epilepsy of Infancy 39
35 c FML157 Familial Male-Limited Precocious Puberty 35
36 P EPL198 Epilepsy, Myoclonic Juvenile 27
37 c EPL210 Epilepsy, Progressive Myoclonic, 6 26
38 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 26
39 c EPL155 Epilepsy, Progressive Myoclonic, 8 25
40 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
41 c EPL134 Epilepsy, Progressive Myoclonic 7 24
42 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
43 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
44 c EPS013 Episodic Kinesigenic Dyskinesia 2 23
45 c MYC086 Myoclonic Epilepsy, Juvenile 4 18
46 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
47 c PRG133 Progressive Myoclonic Epilepsy Type 5 14
48 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
49 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
50 P ATT003 Attenuated Familial Adenomatous Polyposis 46
51 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 45
52 P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 34
53 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 32
54 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 21
55 MTR030 Mitral Valve Prolapse, Familial, X-Linked 24
56 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 14
57 c HYP731 Hyperaldosteronism, Familial, Type I 58
58 P PTT006 Pituitary Adenoma 53
59 c PTT056 Pituitary Adenoma 1, Multiple Types 52
60 c PRG043 Progressive Familial Heart Block, Type Ib 45
61 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
62 c PTT061 Pituitary Adenoma 3, Multiple Types 14
63 PRD013 Periodic Fever, Familial, Autosomal Dominant 65
64 P HYP724 Hyperlipoproteinemia, Type Iii 62
65 CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 36
66 c HYP819 Hyperlipoproteinemia, Type Id 20
67 c FML116 Familial Cold Autoinflammatory Syndrome 1 59
68 P FML012 Familial Partial Lipodystrophy 52
69 c FML023 Familial Hemiplegic Migraine 51
70 c HYP768 Hyperlipoproteinemia, Type I 44
71 c LPD040 Lipodystrophy, Familial Partial, Type 1 44
72 LRY047 Laryngeal Abductor Paralysis 25
73 CNV009 Convulsions Benign Familial Neonatal Dominant Form 19
74 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
75 c PRG101 Progressive Familial Heart Block, Type Ii 34
76 P FML156 Familial Hyperaldosteronism 37
77 CYL004 Cylindromatosis, Familial 32
78 c SVR003 Severe Congenital Neutropenia 58
79 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
80 c LPD036 Lipodystrophy, Familial Partial, Type 6 26
81 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 22
82 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
83 TMP005 Temporal Epilepsy, Familial 19
84 GNV002 Genu Valgum, St. Helena Familial 13
85 P PRC038 Precocious Puberty, Male-Limited 44
86 FML063 Familial Glucocorticoid Deficiency 41
87 c MGR032 Migraine, Familial Hemiplegic, 1 38
88 BKS003 Beukes Hip Dysplasia 32
89 c SZR023 Seizures, Benign Familial Neonatal, 2 31
90 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
91 P EPL164 Epilepsy 73
92 P ATR011 Atrial Fibrillation 69
93 P HYP069 Hyperparathyroidism 59
94 P PRN026 Porencephaly 49
95 c BNG023 Benign Familial Infantile Epilepsy 45
96 P FML043 Familial Idiopathic Basal Ganglia Calcification 43
97 c HYP243 Hyperparathyroidism 1 39
98 c ART028 Aortic Aneurysm, Familial Thoracic 4 27
99 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 22
100 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 22
101 P ACN018 Acne Inversa, Familial, 1 22
102 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
103 c PRN047 Porencephaly 2 19
104 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
105 c DPD002 Depdc5-Related Epilepsy 5
106 P ADV001 Advanced Sleep Phase Syndrome 37
107 IMM153 Immunodeficiency 51 21
108 MCR031 Macrocephaly, Benign Familial 15
109 FML075 Familial Isolated Hyperparathyroidism 46
110 c HYP290 Hypobetalipoproteinemia, Familial, 2 40
111 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 35
112 c HYP600 Hyperaldosteronism, Familial, Type Ii 31
113 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 25
114 c SZR016 Seizures, Benign Familial Infantile, 2 21
115 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
116 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 58
117 P HYP818 Hypobetalipoproteinemia, Familial, 1 50
118 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
119 DYS182 Dysphasia, Familial Developmental 36
120 P FML168 Familial Isolated Pituitary Adenoma 28
121 c BRS088 Breast-Ovarian Cancer, Familial 3 21
122 c BRS098 Breast-Ovarian Cancer, Familial 4 19
123 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 12
124 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
125 P TRT019 Torticollis 48
126 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 41
127 CPL013 Capillary Malformations, Congenital 37
128 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
129 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 36
130 c BNG079 Benign Adult Familial Myoclonic Epilepsy 33
131 c HYP804 Hyperlipidemia, Combined, 1 32
132 c MTR080 Mitral Valve Prolapse 1 28
133 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
134 c CNG129 Congenital Torticollis 24
135 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 23
136 THM023 Thiemann Disease 20
137 c MTR077 Mitral Valve Prolapse 2 20
138 CPP001 Copper Deficiency, Familial Benign 19
139 c MTR083 Mitral Valve Prolapse 3 18
140 CRN069 Corneal Hypesthesia, Familial 16
141 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
142 OSS006 Ossicular Malformations, Familial 11
143 c TRT007 Torticollis, Familial 9
144 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
145 P PLR004 Pleuropulmonary Blastoma 61
146 P HYP614 Hyperlipidemia, Familial Combined 54
147 P HYP599 Hypoparathyroidism, Familial Isolated 40
148 c SZR022 Seizures, Benign Familial Neonatal, 1 37
149 c MGR030 Migraine, Familial Hemiplegic, 2 33
150 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
151 EXD009 Exudative Vitreoretinopathy 2, X-Linked 29
152 c PLR018 Pleuropulmonary Blastoma Type 1 10
153 c PLR020 Pleuropulmonary Blastoma Type 3 8
154 c PLR019 Pleuropulmonary Blastoma Type 2 8
155 c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 65
156 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
157 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 57
158 P HYP050 Hyperinsulinemic Hypoglycemia 55
159 VTM028 Vitamin E, Familial Isolated Deficiency of 55
160 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
161 c BRS110 Breast-Ovarian Cancer, Familial 1 38
162 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 33
163 c MYC083 Myoclonic Epilepsy, Familial Infantile 31
164 c BRS111 Breast-Ovarian Cancer, Familial 2 19
165 P ART067 Aortic Aneurysm, Familial Thoracic 1 67
166 P TMP001 Temporal Lobe Epilepsy 57
167 EWN002 Ewing's Family of Tumors 53
168 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 52
169 P EXD001 Exudative Vitreoretinopathy 51
170 P AMY084 Amyloidosis, Finnish Type 45
171 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 38
172 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
173 c EPL128 Epilepsy, Familial Temporal Lobe, 3 34
174 VNT032 Ventricular Tachycardia, Familial 27
175 IMM172 Immunodeficiency 34 17
176 DWR023 Dwarfism, Familial, with Muscle Spasms 15
177 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 12
178 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 12
179 c MNN043 Meningioma, Familial 70
180 c ART138 Aortic Aneurysm, Familial Abdominal, 1 65
181 P FBR031 Febrile Seizures 55
182 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
183 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 40
184 P BNG002 Benign Meningioma 35
185 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 29
186 c TRC095 Trichoepithelioma, Multiple Familial, 1 25
187 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 25
188 c EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 24
189 c ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 24
190 c FBR072 Febrile Seizures, Familial, 11 23
191 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 20
192 c ACN016 Acne Inversa, Familial, 3 20
193 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 19
194 c SZR020 Seizures, Benign Familial Infantile, 5 17
195 c ATS379 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 11
196 P HYP040 Hypospadias 58
197 c EPL115 Epilepsy, Familial Temporal Lobe, 2 37
198 P GLM015 Glomerulopathy with Fibronectin Deposits 2 33
199 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 30
200 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 24
201 MYX012 Myxoma, Intracardiac 24
202 JNT001 Joint Laxity, Familial 24
203 c FML347 Familial Adenomatous Polyposis 2 23
204 c CRD176 Cardiomyopathy, Familial Restrictive, 1 20
205 c ART105 Aortic Aneurysm, Familial Thoracic 7 19
206 c CRD098 Cardiomyopathy, Familial Restrictive, 3 16
207 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
208 c FML348 Familial Pityriasis Rubra Pilaris 13
209 c HYP545 Hypospadias 3, Autosomal 12
210 c PST093 Posterior Hypospadias 11
211 c PRM005 Primary Hyperparathyroidism 60
212 P SCK002 Sick Sinus Syndrome 54
213 c LYS021 Loeys-Dietz Syndrome 3 54
214 c LYS017 Loeys-Dietz Syndrome 4 49
215 P OPT070 Optic Nerve Hypoplasia, Bilateral 49
216 c MYS051 Myasthenic Syndrome, Congenital, 5 45
217 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 44
218 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 44
219 c MYS078 Myasthenic Syndrome, Congenital, 14 43
220 c MYS052 Myasthenic Syndrome, Congenital, 10 39
221 FML307 Familial Calcium Pyrophosphate Deposition 34
222 c MYS075 Myasthenic Syndrome, Congenital, 13 34
223 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 29
224 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 28
225 c LYS020 Loeys-Dietz Syndrome 5 26
226 c MYS076 Myasthenic Syndrome, Congenital, 8 25
227 c MYS074 Myasthenic Syndrome, Congenital, 12 24
228 P HYD015 Hydroa Vacciniforme 24
229 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 24
230 c MYS064 Myasthenic Syndrome, Congenital, 16 23
231 c SCK017 Sick Sinus Syndrome 1 23
232 c MYS070 Myasthenic Syndrome, Congenital, 19 22
233 c MYS065 Myasthenic Syndrome, Congenital, 18 22
234 IMM099 Immunodeficiency 33 21
235 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
236 c MYS077 Myasthenic Syndrome, Congenital, 15 21
237 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
238 OST150 Osteodysplasia, Familial, Anderson Type 18
239 c SCK022 Sick Sinus Syndrome 3 16
240 SHL003 Shoulder Girdle Defect Mental Retardation Familial 14
241 c FML309 Familial Infantile Bilateral Striatal Necrosis 13
242 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 11
243 c HYD016 Hydroa Vacciniforme, Familial 11
244 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 9
245 P CSH002 Cushing Syndrome, Familial 8
246 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 8
247 UMB003 Umbilicus, Familial Flat 8
248 c HMR010 Hemeralopia, Congenital Essential 4
249 P HMR011 Hemeralopia, Familial 3
250 c EXD008 Exudative Vitreoretinopathy 1 72
251 c LPM012 Lipomatosis, Multiple 64
252 c ERY048 Erythrocytosis, Familial, 2 52
253 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 50
254 DSM003 Desmoid Disease, Hereditary 49
255 P LPM005 Lipomatosis 46
256 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 43
257 FML036 Familial Periodic Paralysis 42
258 c CHR630 Chorea, Benign Hereditary 35
259 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33
260 c EPS039 Episodic Pain Syndrome, Familial, 1 31
261 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 30
262 ESN023 Eosinophilia, Familial 25
263 c FML339 Familial Adenomatous Polyposis 4 23
264 c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21
265 c EPL150 Epilepsy, Familial Temporal Lobe, 7 20
266 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 20
267 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16
268 c ERY032 Erythrocytosis, Familial, 4 16
269 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13
270 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13
271 c ALZ049 Alzheimer Disease 2 60
272 P ANT006 Antiphospholipid Syndrome 60
273 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 58
274 STT041 Stuttering 55
275 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 44
276 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
277 c EPL114 Epilepsy, Familial Temporal Lobe, 1 40
278 INT304 Interstitial Pneumonitis, Desquamative, Familial 37
279 CHR525 Chromosome Xq26.3 Duplication Syndrome 33
280 c ART071 Aortic Aneurysm, Familial Thoracic 6 32
281 P FML313 Familial Progressive Hyperpigmentation 29
282 P PRD017 Periodic Paralyses 27
283 c GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 26
284 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 21
285 c ANT041 Antiphospholipid Syndrome, Familial 20
286 c FML344 Familial Mediterranean Fever, Autosomal Dominant 20
287 c FBR069 Febrile Seizures, Familial, 4 19
288 c EPL081 Epilepsy, Familial Temporal Lobe, 5 19
289 c EPL152 Epilepsy, Familial Temporal Lobe, 8 17
290 c ERY031 Erythrocytosis, Familial, 3 17
291 c FML159 Familial Periodic Paralyses 17
292 P FML048 Familial Avascular Necrosis of the Femoral Head 17
293 DSC014 Discoid Fibromas, Familial Multiple 17
294 URM003 Uromodulin-Associated Kidney Disease 16
295 c TRC094 Trichoepithelioma, Multiple Familial, 2 16
296 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 15
297 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
298 P XNC004 X Inactivation, Familial Skewed, 1 14
299 MLT051 Multiple Fibrofolliculoma Familial 6
300 c CHR089 Chronic Kidney Failure 73
301 P KDN018 Kidney Disease 68
302 P AMY004 Amyloidosis 68
303 P HYP802 Hypocalcemia, Autosomal Dominant 1 67
304 P HLP001 Holoprosencephaly 66
305 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
306 c AMY009 Amyloidosis Aa 56
307 P FML035 Familial Hyperlipidemia 51
308 c HYP739 Hyperlipoproteinemia, Type Iv 49
309 c HRD039 Hereditary Amyloidosis 49
310 c HLP023 Holoprosencephaly 1 47
311 c HYP396 Hypercholesterolemia, Autosomal Recessive 43
312 c HLP029 Holoprosencephaly 4 40
313 P HYP733 Hypercalciuria, Absorptive, 2 40
314 c HLP024 Holoprosencephaly 2 40
315 c HLP026 Holoprosencephaly 3 40
316 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 37
317 ASP026 Asplenia, Isolated Congenital 33
318 c HLP028 Holoprosencephaly 5 32
319 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
320 c HLP027 Holoprosencephaly 7 30
321 FML206 Familial Cerebral Saccular Aneurysm 26
322 P INT260 Intracranial Berry Aneurysm 25
323 c HLP025 Holoprosencephaly 9 25
324 c HLP016 Holoprosencephaly 11 24
325 c SCK014 Sick Sinus Syndrome 2 22
326 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
327 c HLP022 Holoprosencephaly 8 22
328 LNT008 Lentiginosis, Inherited Patterned 21
329 c HYP564 Hypocalcemia, Autosomal Dominant 2 20
330 c PRM150 Primary Localized Amyloidosis 20
331 DCR009 Dicer1-Related Disorders 20
332 c AHM002 Ah Amyloidosis 18
333 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
334 c FCL065 Facial Palsy, Familial Recurrent Peripheral 15
335 c NNS019 Nonsyndromic Holoprosencephaly 15
336 c SZR025 Seizures, Benign Familial Neonatal, 3 14
337 GGN006 Gigantiform Cementoma, Familial 14
338 c FBR067 Febrile Seizures, Familial, 9 14
339 c HLP021 Holoprosencephaly 6 13
340 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13
341 c ANR011 Aneurysm, Intracranial Berry, 2 13
342 c ANR028 Aneurysm, Intracranial Berry, 3 13
343 c ANR022 Aneurysm, Intracranial Berry, 4 12
344 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 12
345 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
346 c ANR030 Aneurysm, Intracranial Berry, 8 10
347 c ANR024 Aneurysm, Intracranial Berry, 9 10
348 c HYP809 Hypercalciuria, Absorptive, 1 10
349 c ANR023 Aneurysm, Intracranial Berry, 7 10
350 c ANR029 Aneurysm, Intracranial Berry, 6 10
351 c FBR076 Febrile Seizures, Familial, 7 10
352 c ANR039 Aneurysm, Intracranial Berry, 11 10
353 c ANR026 Aneurysm, Intracranial Berry, 5 10
354 c ANR025 Aneurysm, Intracranial Berry, 10 10
355 P RCR003 Recurrent Peripheral Facial Palsy 9
356 THR043 Thrombomodulin Anomalies, Familial 7
357 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 6
358 FML088 Familial Streblodactyly 6
359 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 4
360 c DYS165 Dysfibrinogenemia, Congenital 38
361 DGT005 Digital Arthropathy-Brachydactyly, Familial 31
362 MYC066 Myoclonus, Familial Cortical 30
363 DYS140 Dyskinesia, Familial, with Facial Myokymia 29
364 c FML299 Familial Adenomatous Polyposis 3 24
365 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 24
366 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
367 c EPS028 Episodic Pain Syndrome, Familial, 3 20
368 c ATR072 Atrial Fibrillation, Familial, 13 20
369 c ATR059 Atrial Fibrillation, Familial, 11 19
370 c ATR069 Atrial Fibrillation, Familial, 12 19
371 c ATR068 Atrial Fibrillation, Familial, 14 18
372 c ERY063 Erythrocytosis, Familial, 5 15
373 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
374 P CRY007 Cryoglobulinemia, Familial Mixed 56
375 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 46
376 c TYP024 Type Ii Mixed Cryoglobulinemia 39
377 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 37
378 c PRK085 Parkinson Disease 1, Autosomal Dominant 35
379 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
380 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 32
381 P HYP078 Hypertrophy of Breast 31
382 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 27
383 CD8002 Cd8 Deficiency, Familial 25
384 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
385 HYP344 Hyperthyroidism, Familial Gestational 24
386 P FML340 Familial Episodic Pain Syndrome 24
387 c TTH013 Tooth Agenesis, Selective, 4 22
388 HYP279 Hypercholanemia, Familial 22
389 GLC043 Glucocorticoid Deficiency 2 21
390 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
391 P TTH010 Tooth Agenesis, Selective, 1 21
392 CLL041 Collagenoma, Familial Cutaneous 21
393 c ATR039 Atrial Fibrillation, Familial, 4 20
394 c ATR035 Atrial Fibrillation, Familial, 6 19
395 c ART118 Aortic Aneurysm, Familial Thoracic 9 19
396 c ATR061 Atrial Fibrillation, Familial, 10 19
397 c HYP678 Hypertrophy of the Breast, Juvenile 19
398 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 18
399 c ATR092 Atrial Fibrillation, Familial, 15 18
400 c ATR037 Atrial Fibrillation, Familial, 7 18
401 c ATR038 Atrial Fibrillation, Familial, 3 17
402 c ATR085 Atrial Fibrillation, Familial, 18 17
403 c ART133 Aortic Aneurysm, Familial Thoracic 11 17
404 c ART107 Aortic Aneurysm, Familial Thoracic 8 17
405 c TTH012 Tooth Agenesis, Selective, 3 17
406 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
407 GLC053 Glucocorticoid Deficiency 3 16
408 c TTH027 Tooth Agenesis, Selective, 8 16
409 c ATR070 Atrial Fibrillation, Familial, 9 16
410 c TTH025 Tooth Agenesis, Selective, 9 15
411 c TTH026 Tooth Agenesis, Selective, 7 15
412 c TTH017 Tooth Agenesis, Selective, 5 14
413 c TTH011 Tooth Agenesis, Selective, 2 13
414 c MXD037 Mixed Cryoglobulinemia Type Iii 13
415 c ERY064 Erythrocytosis, Familial, 6 11
416 c HYP333 Hyperlipidemia, Combined, 2 11
417 c XNC002 X Inactivation, Familial Skewed, 2 10
418 FML160 Familial Spastic Paralysis 6
419 c SYS001 Systemic Lupus Erythematosus 88
420 c ART115 Aortic Valve Disease 1 71
421 P LPS004 Lupus Erythematosus 69
422 c MGR028 Migraine with or Without Aura 1 69
423 P PLM036 Pulmonary Fibrosis 69
424 c MLT160 Multiple Endocrine Neoplasia, Type Iia 66
425 c WLM013 Wilms Tumor 1 65
426 c ART101 Aortic Valve Disease 2 65
427 HYP020 Hyperprolactinemia 64
428 P MYS005 Myositis 64
429 P HMN010 Hemangioma 60
430 c VSC019 Vesicoureteral Reflux 1 59
431 P KDN017 Kidney Cancer 59
432 P OVR049 Ovarian Disease 58
433 P PMP005 Pemphigus Vulgaris 58
434 P MLT074 Multiple Endocrine Neoplasia 57
435 PSD021 Pseudovaginal Perineoscrotal Hypospadias 54
436 P OTS001 Otosclerosis 53
437 P MGR001 Migraine Without Aura 48
438 c WLM011 Wilms Tumor 6 48
439 P ART018 Aortic Valve Insufficiency 47
440 ACH015 Achalasia, Familial Esophageal 47
441 P MYG005 Myoglobinuria 45
442 c SYS043 Systemic Lupus Erythematosus 1 45
443 HRT015 Heritable Pulmonary Arterial Hypertension 44
444 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 42
445 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 42
446 c PMP006 Pemphigus Vulgaris, Familial 41
447 PRM237 Primary Hypomagnesemia 40
448 c MYG007 Myoglobinuria, Recurrent 39
449 P HRD009 Hereditary Wilms' Tumor 38
450 FML304 Familial Isolated Dilated Cardiomyopathy 38
451 FBR089 Fibrosclerosis, Multifocal 37
452 c SYS061 Systemic Lupus Erythematosus 16 37
453 DSQ001 Desquamative Interstitial Pneumonia 37
454 P THY061 Thyroid Dyshormonogenesis 2a 37
455 P LTT001 Lattice Corneal Dystrophy 36
456 c CRN236 Corneal Dystrophy, Lattice Type I 34
457 c PRP091 Porphyria Cutanea Tarda, Type I 33
458 c HYP699 Hyperekplexia 1 32
459 c KDN016 Kidney Benign Neoplasm 32
460 c PRV019 Periventricular Nodular Heterotopia 1 31
461 HYP249 Hyperthyroidism, Nonautoimmune 31
462 c OTS005 Otosclerosis 1 30
463 c FML324 Familial Porphyria Cutanea Tarda 30
464 c MLG144 Malignant Hemangioma 29
465 c WLM005 Wilms Tumor 2 28
466 c THY071 Thyroid Dyshormonogenesis 1 27
467 c FML272 Familial Sick Sinus Syndrome 27
468 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 27
469 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 27
470 c FML269 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 27
471 HYP677 Hyperthyroxinemia, Familial Dysalbuminemic 26
472 SHR108 Short Stature, Idiopathic, X-Linked 25
473 c SYS069 Systemic Lupus Erythematosus 6 25
474 c THY056 Thyroid Dyshormonogenesis 3 25
475 c THY063 Thyroid Dyshormonogenesis 4 25
476 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
477 FLR007 Failure of Tooth Eruption, Primary 25
478 EDC001 Edict Syndrome 24
479 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
480 c SYS038 Systemic Lupus Erythematosus 2 23
481 c EPL113 Epilepsy, Familial Temporal Lobe, 4 23
482 CRT040 Corticosterone Methyloxidase Type Ii Deficiency 23
483 c PRV018 Periventricular Nodular Heterotopia 7 22
484 FCT029 Factor V and Factor Viii, Combined Deficiency of, 1 22
485 c MGR036 Migraine with or Without Aura 2 22
486 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 21
487 c LTT008 Lattice Corneal Dystrophy Type Ii 21
488 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 21
489 c PRV016 Periventricular Nodular Heterotopia 6 21
490 FML293 Familial Isolated Restrictive Cardiomyopathy 21
491 c HYP510 Hyperekplexia 2 21
492 c HYP825 Hyperekplexia 4 20
493 c FBR073 Febrile Seizures, Familial, 1 19
494 c WLM018 Wilms Tumor 5 19
495 c SYS046 Systemic Lupus Erythematosus 3 19
496 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
497 c THY062 Thyroid Dyshormonogenesis 5 18
498 c THY110 Thyroid Dyshormonogenesis 6 18
499 c VSC046 Vesicoureteral Reflux 8 18
500 c WLM017 Wilms Tumor 4 18
501 c SYS051 Systemic Lupus Erythematosus 4 18
502 VLV047 Volvulus of Midgut 18
503 c VSC025 Vesicoureteral Reflux 3 18
504 c MGR023 Migraine Without Aura 4 17
505 c ACQ004 Acquired Hemangioma 17
506 c OTS007 Otosclerosis 3 17
507 c MGR024 Migraine with or Without Aura 5 17
508 FML325 Familial Cervical Artery Dissection 17
509 c SYS053 Systemic Lupus Erythematosus 5 17
510 c VSC020 Vesicoureteral Reflux 2 16
511 c SYS040 Systemic Lupus Erythematosus 10 16
512 c MGR040 Migraine with or Without Aura 12 16
513 c PLM044 Pulmonary Fibrosis, Familial 16
514 ANG063 Angiolipomatosis, Familial 16
515 c OTS012 Otosclerosis 10 16
516 c OTS010 Otosclerosis 7 16
517 c SYS041 Systemic Lupus Erythematosus 9 15
518 c SYS055 Systemic Lupus Erythematosus 12 15
519 c MGR022 Migraine with or Without Aura 3 15
520 c MGR038 Migraine with or Without Aura 10 15
521 c FBR074 Febrile Seizures, Familial, 6 15
522 c SYS047 Systemic Lupus Erythematosus 7 15
523 c OTS011 Otosclerosis 8 15
524 c WLM015 Wilms Tumor 3 15
525 P SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 15
526 c FBR075 Febrile Seizures, Familial, 2 15
527 c FBR071 Febrile Seizures, Familial, 5 15
528 c SYS065 Systemic Lupus Erythematosus 11 15
529 c MGR039 Migraine with or Without Aura 11 15
530 c OTS008 Otosclerosis 4 14
531 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
532 c OTS006 Otosclerosis 2 14
533 c BCT018 Bacterial Myositis 14
534 c MGR042 Migraine with or Without Aura 13 13
535 c SYS048 Systemic Lupus Erythematosus 8 13
536 c SYS045 Systemic Lupus Erythematosus 14 13
537 c SYS052 Systemic Lupus Erythematosus 13 13
538 CMD004 Comedones, Familial Dyskeratotic 13
539 c EPL124 Epilepsy, Familial Temporal Lobe, 6 13
540 ERY057 Erythema Nodosum, Familial 13
541 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 13
542 DGH001 Doughnut Lesions of Skull, Familial 13
543 c VRL025 Viral Myositis 13
544 c SYS067 Systemic Lupus Erythematosus 15 12
545 c OTS009 Otosclerosis 5 11
546 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 11
547 IMM016 Immune Deficiency, Familial Variable 10
548 c ART151 Aortic Aneurysm, Familial Abdominal, 2 10
549 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 10
550 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
551 c MGR037 Migraine with or Without Aura 8 10
552 NGY001 Nguyen Syndrome 10
553 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 10
554 c ADV008 Advanced Sleep Phase Syndrome 2 10
555 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 10
556 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 9
557 c FBR068 Febrile Seizures, Familial, 10 9
558 c KDN012 Kidney Carcinoma in Situ 9
559 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 9
560 P STT036 Stuttering, Familial Persistent, 3 9
561 c STT039 Stuttering, Familial Persistent, 4 9
562 c FML158 Familial Hemangioma 6
563 c RNL033 Renal Carcinoma, Familial 6
564 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
565 c OTS004 Otosclerosis, Familial 5
566 c LCL003 Localized Pulmonary Fibrosis 5
567 c OVR071 Ovarian Insufficiency, Familial 4
568 c SZR003 Seizures Benign Familial Neonatal Recessive Form 4
569 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
570 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
571 FML082 Familial Partial Paralysis 3
572 ANT031 Anterior Pituitary Insufficiency, Familial 3
573 HYP197 Hypofibrinogenemia, Familial 3
574 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
575 NPH022 Nephropathy Familial with Hyperuricemia 3
576 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 2
577 RGH002 Right Atrium Familial Dilatation 2
578 HYP177 Hypertensive Hypokalemia Familial 2
579 PLM063 Pulmonary Hypoplasia Familial Primary 2
580 NSL012 Nasal Polyposis, Familial 2
581 EPL014 Epilepsy, Partial, Familial 2
582 DST014 Distal Primary Acidosis, Familial 2
583 PLM055 Pulmonary Artery Familial Dilatation 2
584 P HYP750 Hypertriglyceridemia, Familial 60
585 ACT164 Actinic Prurigo 50
586 c HYP555 Hypertriglyceridemia, Transient Infantile 41
587 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
588 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
589 c EPL187 Epilepsy, Familial Focal, with Variable Foci 2 18
590 c EPL192 Epilepsy, Familial Focal, with Variable Foci 3 18
591 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 17
592 c EPS027 Episodic Pain Syndrome, Familial, 2 16
593 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
594 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
595 P GLL022 Guillain-Barre Syndrome 63
596 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 63
597 P BRG001 Brugada Syndrome 62
598 P ACQ022 Acquired Generalized Lipodystrophy 53
599 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
600 c CNG012 Congenital Generalized Lipodystrophy 48
601 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 45
602 FML091 Familial Tumoral Calcinosis 43
603 LCR013 Lacrimal Duct Defect 43
604 c BRG005 Brugada Syndrome 1 41
605 P VRT013 Vertigo, Benign Recurrent 37
606 c GLL037 Guillain-Barre Syndrome, Familial 33
607 c BRG007 Brugada Syndrome 5 32
608 ATS009 Autosomal Genetic Disease 31
609 c BRG006 Brugada Syndrome 2 30
610 c ERY065 Erythrocytosis, Familial, 7 26
611 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 25
612 c BRG003 Brugada Syndrome 3 25
613 c ART134 Aortic Aneurysm, Familial Thoracic 10 22
614 PPL052 Papillomatosis, Confluent and Reticulated 22
615 c BRG012 Brugada Syndrome 9 21
616 c BRG009 Brugada Syndrome 7 20
617 c BRG004 Brugada Syndrome 4 19
618 c BRG010 Brugada Syndrome 8 18
619 c EPL220 Epilepsy, Familial Focal, with Variable Foci 4 18
620 c GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 17
621 c BRG008 Brugada Syndrome 6 17
622 CRR016 Cirrhosis, Familial 17
623 c HYP563 Hyperpigmentation, Familial Progressive, 1 15
624 c VRT008 Vertigo, Benign Recurrent, 2 7
625 YLN002 Y-Linked Monogenic Disease 3
626 c HYP595 Hypertension, Essential 78
627 P RTN024 Retinoblastoma 72
628 c THR092 Thrombophilia Due to Thrombin Defect 69
629 P DYS154 Dystonia 65
630 OVR029 Ovarian Hyperstimulation Syndrome 65
631 c THR082 Thrombophilia Due to Activated Protein C Resistance 60
632 P SHR029 Short Syndrome 59
633 P LCH002 Lichen Planus 58
634 TTH002 Tooth Agenesis 55
635 HMZ003 Homozygous Familial Hypercholesterolemia 55
636 P THR015 Thrombophilia 55
637 P ACT008 Actinic Keratosis 54
638 P DPY001 Dupuytren Contracture 53
639 P LFT003 Left Ventricular Noncompaction 53
640 VTM027 Vitamin D-Dependent Rickets, Type 2a 53
641 P OBS001 Obstructive Jaundice 53
642 HYP732 Hyperalphalipoproteinemia 1 53
643 c CHL140 Chilblain Lupus 1 53
644 MCL027 Macular Dystrophy, Dominant Cystoid 52
645 P BND018 Band Heterotopia 51
646 c MLG069 Malignant Hypertension 50
647 P RNL017 Renal Oncocytoma 48
648 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
649 P KRT005 Keratoacanthoma 47
650 P CLS010 Cluster Headache 46
651 BNG009 Benign Epilepsy with Centrotemporal Spikes 46
652 P INT080 Intraocular Melanoma 45
653 c DYS119 Dystonia 9 45
654 c ANT077 Anterior Segment Dysgenesis 1 44
655 P HYP083 Hypopituitarism 44
656 c SHR030 Short Qt Syndrome 43
657 P HMF004 Hemifacial Spasm 42
658 P FML187 Familial Hypertension 42
659 c CLR085 Colorectal Cancer 1 40
660 BRR012 Berardinelli-Seip Congenital Lipodystrophy 40
661 P HYP120 Hypoaldosteronism 39
662 c FML008 Familial Retinoblastoma 39
663 c ANT086 Anterior Segment Dysgenesis 2 39
664 c ANT071 Anterior Segment Dysgenesis 4 39
665 P ORF002 Orofacial Cleft 39
666 c MNS014 Monosomy 22 38
667 PDT014 Pediatric Ependymoma 38
668 SPN354 Spinal Arachnoiditis 37
669 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 37
670 c PRN053 Porencephaly 1 36
671 NND010 Nondisjunction 36
672 c FML294 Familial Short Qt Syndrome 35
673 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 33
674 P ACT232 Acute Necrotizing Encephalopathy 33
675 P GLM006 Glomangioma 31
676 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 30
677 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 30
678 FML292 Familial Drusen 30
679 c MLG039 Malignant Essential Hypertension 30
680 IDP085 Idiopathic Infantile Hypercalcemia 30
681 P CRY006 Cryofibrinogenemia 30
682 c HMF011 Hemifacial Spasm, Familial 29
683 c ANT084 Anterior Segment Dysgenesis 3 28
684 c MLG080 Malignant Secondary Hypertension 26
685 c BNG021 Benign Essential Hypertension 26
686 c ANT085 Anterior Segment Dysgenesis 5 25
687 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
688 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 25
689 c ANT083 Anterior Segment Dysgenesis 7 25
690 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 25
691 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 24
692 c FML223 Familial Keratoacanthoma 24
693 c CLR077 Colorectal Cancer 10 24
694 P FML305 Familial Abdominal Aortic Aneurysm 24
695 CRT064 Corticosterone Methyloxidase Deficiency 23
696 c SHR031 Short Qt Syndrome 1 23
697 c SHR032 Short Qt Syndrome 2 23
698 c ART068 Aortic Aneurysm, Familial Thoracic 2 23
699 c CLR075 Colorectal Cancer 3 23
700 c DYS151 Dystonia 25 23
701 DRM041 Dermoid Cysts, Familial Frontonasal 23
702 P MNS011 Monosomy 9q22.3 22
703 c MNS008 Monosomy 21 22
704 c CLR087 Colorectal Cancer 12 22
705 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 22
706 LRY046 Laryngeal Web, Familial 22
707 P FML337 Familial Chilblain Lupus 22
708 c SCN048 Secondary Syringomyelia 22
709 c GNS004 Geniospasm 1 21
710 c SHR033 Short Qt Syndrome 3 21
711 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
712 c LFT017 Left Ventricular Noncompaction 8 21
713 c PRT045 Prothrombin-Related Thrombophilia 21
714 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 21
715 P CNG070 Congenital Dislocation of the Patella 21
716 c ORF027 Orofacial Cleft 11 20
717 PTR030 Pterygium of Conjunctiva and Cornea 20
718 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
719 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 20
720 c ORF048 Orofacial Cleft 1 19
721 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
722 c CHL114 Chilblain Lupus 2 19
723 c HYP376 Hypouricemia, Renal, 2 19
724 FXL001 Foix-Alajouanine Syndrome 19
725 c LFT018 Left Ventricular Noncompaction 10 19
726 c ANT087 Anterior Segment Dysgenesis 6 18
727 c ANT067 Anterior Segment Dysgenesis 8 18
728 c FML028 Familial Renal Oncocytoma 18
729 c ORF047 Orofacial Cleft 15 18
730 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
731 c ANR027 Aneurysm, Intracranial Berry, 1 18
732 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 18
733 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 17
734 c MGR033 Migraine with or Without Aura 6 17
735 ZNC006 Zinc, Elevated Plasma 17
736 c THR023 Thrombophilia Due to Thrombomodulin Defect 17
737 c ORF031 Orofacial Cleft 14 16
738 c ACT229 Acute Necrotizing Encephalopathy Type 1 16
739 c ORF014 Orofacial Cleft 5 16
740 c ORF025 Orofacial Cleft 6 16
741 c ORF028 Orofacial Cleft 10 15
742 c CLS053 Cluster Headache, Familial 15
743 c ORF049 Orofacial Cleft 3 15
744 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
745 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
746 c ORF050 Orofacial Cleft 2 14
747 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 14
748 c ORF029 Orofacial Cleft 13 14
749 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 13
750 c FML258 Familial Acute Necrotizing Encephalopathy 13
751 c FML275 Familial Hypoaldosteronism 13
752 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
753 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 13
754 P HRD194 Hereditary Geniospasm 12
755 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 12
756 c LCH017 Lichen Planus, Familial 12
757 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 12
758 FML202 Familial Alzheimer-Like Prion Disease 12
759 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 12
760 c KRT070 Keratosis, Familial Actinic 11
761 c HYP452 Hypertension, Essential 6 11
762 c ORF023 Orofacial Cleft 4 11
763 c ORF024 Orofacial Cleft 9 11
764 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
765 c ORF020 Orofacial Cleft 12 11
766 c PRM168 Primary Syringomyelia 11
767 P CHR636 Chorea, Benign Familial 11
768 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 11
769 c HYP449 Hypertension, Essential 3 11
770 c HYP450 Hypertension, Essential 4 11
771 FML079 Familial Nasal Acilia 11
772 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
773 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 11
774 c FML255 Familial Syringomyelia 10
775 CHR631 Choreoathetosis, Familial Inverted 10
776 c HYP451 Hypertension, Essential 5 10
777 c MRL006 Meralgia Paraesthetica, Familial 10
778 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 10
779 OPH016 Ophthalmoplegia, Familial Static 10
780 CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 10
781 c ORF016 Orofacial Cleft 8 10
782 EDM003 Edema, Familial Idiopathic, Prepubertal 10
783 c HYP453 Hypertension, Essential 7 10
784 c HYP454 Hypertension, Essential 8 10
785 c HYP448 Hypertension, Essential 2 10
786 c HYP447 Hypertension, Essential 1 10
787 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 10
788 CRD227 Cardiac Lipidosis, Familial 10
789 FML336 Familial Patent Arterial Duct 10
790 c PTL011 Patella, Familial Recurrent Dislocation of 10
791 c CRY033 Cryofibrinogenemia, Familial Primary 10
792 c FML025 Familial Glomangioma 10
793 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
794 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
795 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 9
796 HST021 Histiocytosis, Familial Lipochrome 9
797 CNC019 Cancer, Familial, with in Vitro Radioresistance 9
798 ALP096 Alopecia, Familial Focal 9
799 c JND003 Jaundice, Familial Obstructive, of Infancy 9
800 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
801 c MLN068 Melanoma, Malignant Familial Intraocular 9
802 LGL002 Leg Ulcers, Familial, of Juvenile Onset 9
803 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
804 c FML072 Familial Hypopituitarism 8
805 MSC143 Muscle Cramps, Familial 8
806 STT047 Setting-Sun Phenomenon, Familial Benign 8
807 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 8
808 NSL026 Nasal Hyperpigmentation, Familial Transverse 8
809 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
810 MCR339 Macrocytosis, Familial 7
811 LMB070 Lumbar Stenosis, Familial 7
812 PRP095 Priapism, Familial Idiopathic 7
813 STR098 Striae Distensae, Familial 7
814 NSL025 Nasal Groove, Familial Transverse 7
815 BND019 Bundle Branch Block, Familial Isolated Complete Right 7
816 AZT005 Azotemia, Familial 7
817 URT053 Urticaria, Familial Localized Heat 7
818 CRM011 Cramps, Familial Adolescent 7
819 BRD052 Broad Terminal Phalanges, Familial 7
820 FVR001 Fever, Familial Lifelong Persistent 7
821 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 7
822 CRY034 Cryptotia, Familial 6
823 INS028 Insulin Receptors, Familial Increase in 6
824 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
825 c BNG034 Benign Secondary Hypertension 6
826 PCH021 Pachydermodactyly, Familial 6
827 BLN022 Blue Nevi, Familial Multiple 6
828 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 6
829 OST166 Osteoma of Cranial Vault, Familial 6
830 c RRL001 Rare Lichen Planus 6
831 PNC125 Pancreatic Lymphoma, Familial 6
832 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 6
833 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
834 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
835 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 5
836 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 5
837 c FML317 Familial Monosomy 7 Syndrome 5
838 FML216 Familial Isolated Clinodactyly of Fingers 4
839 BRC118 Brachial Palsy, Familial Congenital 4
840 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
841 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
842 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 4
843 c FML049 Familial Band Heterotopia 4
844 c FML226 Familial Dupuytren Contracture 3
845 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
846 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
847 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 2
848 FML074 Familial Interstitial Fibrosis 2
849 P PRS040 Prostate Cancer 94
850 MYL069 Myeloma, Multiple 85
851 P ATX030 Ataxia-Telangiectasia 84
852 ESP021 Esophageal Cancer 83
853 c LKM061 Leukemia, Acute Myeloid 83
854 CYS001 Cystic Fibrosis 83
855 SQM013 Squamous Cell Carcinoma, Head and Neck 82
856 P FNC027 Fanconi Anemia, Complementation Group a 82
857 NRL016 Neural Tube Defects 79
858 P NNN008 Noonan Syndrome 1 79
859 PFF001 Pfeiffer Syndrome 78
860 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 77
861 P PRK057 Parkinson Disease, Late-Onset 76
862 PLY001 Polycythemia Vera 76
863 KPS004 Kaposi Sarcoma 76
864 P SRC025 Sarcoidosis 1 76
865 P MLT020 Multiple Sclerosis 75
866 P NRF023 Neurofibromatosis, Type Ii 75
867 MRF001 Marfan Syndrome 75
868 c HMC039 Hemochromatosis, Type 1 74
869 APL001 Aplastic Anemia 74
870 NRF026 Neurofibromatosis, Type Iv, of Riccardi 74
871 c LKM063 Leukemia, Chronic Myeloid 74
872 PHN003 Phenylketonuria 73
873 P HRT032 Heart Disease 73
874 P NRB001 Neuroblastoma 73
875 VNH007 Von Hippel-Lindau Syndrome 72
876 P ALG028 Alagille Syndrome 1 72
877 ADR007 Adrenoleukodystrophy 72
878 KWS002 Kawasaki Disease 72
879 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
880 FBR012 Fabry Disease 72
881 P DBT085 Diabetes Mellitus, Insulin-Dependent 72
882 P LYN001 Lynch Syndrome 71
883 P DMN001 Diamond-Blackfan Anemia 71
884 P AGM001 Agammaglobulinemia 71
885 P SPR120 Supranuclear Palsy, Progressive, 1 71
886 P TYS001 Tay-Sachs Disease 70
887 c HPT001 Hepatitis C 70
888 c HPT016 Hepatitis B 70
889 MYL009 Myelodysplastic Syndrome 70
890 P LPR021 Leprosy 3 70
891 P FRG001 Fragile X Syndrome 70
892 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 70
893 P TRN020 Turner Syndrome 69
894 P ATS364 Autism 69
895 SMT004 Smith-Lemli-Opitz Syndrome 69
896 MYL005 Myelofibrosis 69
897 P ALC004 Alcohol Abuse 69
898 P HMP002 Hemophagocytic Lymphohistiocytosis 69
899 c PRM196 Premature Ovarian Failure 1 69
900 P PSD087 Pseudoxanthoma Elasticum 68
901 P ORT004 Orthostatic Intolerance 68
902 P DYS007 Dyskeratosis Congenita 68
903 P LKM062 Leukemia, Acute Lymphoblastic 68
904 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 68
905 BRK010 Burkitt Lymphoma 68
906 P KRB001 Krabbe Disease 68
907 c TBR026 Tuberous Sclerosis 2 67
908 INC021 Incontinentia Pigmenti 67
909 LWC002 Lowe Oculocerebrorenal Syndrome 67
910 STH001 Saethre-Chotzen Syndrome 67
911 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
912 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 66
913 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 66
914 P ASP006 Aspergillosis 66
915 CST001 Costello Syndrome 66
916 P HYD006 Hydrocephalus 66
917 P CRD224 Cardiofaciocutaneous Syndrome 1 66
918 c GLY008 Glycogen Storage Disease Ii 66
919 P KBK002 Kabuki Syndrome 1 66
920 P HML033 Hemolytic Uremic Syndrome, Atypical 1 66
921 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65
922 P THL005 Thalassemia 65
923 P CCK001 Cockayne Syndrome 65
924 TNG002 Tangier Disease 64
925 c MCP050 Mucopolysaccharidosis, Type Ii 64
926 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
927 TBC004 Tobacco Addiction 64
928 P DNG005 Dengue Virus 64
929 P GCH001 Gaucher's Disease 64
930 P MSC007 Muscle Hypertrophy 64
931 c LBR014 Leber Congenital Amaurosis 4 63
932 WLL001 Williams-Beuren Syndrome 63
933 P CRB048 Cerebral Cavernous Malformations 63
934 P MCK013 Meckel Syndrome, Type 1 62
935 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 62
936 RFS006 Refsum Disease, Classic 62
937 LSC001 Lesch-Nyhan Syndrome 62
938 CRB011 Cerebrotendinous Xanthomatosis 62
939 P SHW006 Shwachman-Diamond Syndrome 1 62
940 c NMN016 Niemann-Pick Disease, Type B 62
941 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 62
942 NRR002 Norrie Disease 62
943 P CRD132 Cardiac Conduction Defect 62
944 c MCP049 Mucopolysaccharidosis, Type Vii 62
945 DRR014 Darier-White Disease 61
946 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
947 c GCH015 Gaucher Disease, Type I 61
948 P NMN002 Niemann-Pick Disease 61
949 P WLF004 Wolfram Syndrome 61
950 LYS012 Lysosomal Acid Lipase Deficiency 61
951 ARG002 Argininosuccinic Aciduria 61
952 ALP103 Alpha-1-Antitrypsin Deficiency 61
953 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 61
954 CFF002 Coffin-Lowry Syndrome 61
955 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
956 P GLY013 Glycogen Storage Disease 60
957 P NTR004 Neutropenia 60
958 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
959 c PRT132 Protoporphyria, Erythropoietic, 1 60
960 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 60
961 P OCL013 Oculodentodigital Dysplasia 60
962 c NNN010 Noonan Syndrome 3 59
963 NTH001 Netherton Syndrome 59
964 c MNN047 Mannosidosis, Alpha B, Lysosomal 59
965 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 59
966 P CHL002 Childhood Absence Epilepsy 59
967 ABL002 Ablepharon-Macrostomia Syndrome 59
968 STR039 Sturge-Weber Syndrome 59
969 c PRX045 Peroxisome Biogenesis Disorder 1b 59
970 LCR014 Lacrimoauriculodentodigital Syndrome 59
971 P CRN108 Cranioectodermal Dysplasia 1 59
972 P NRC002 Narcolepsy 59
973 c CRN300 Coronary Heart Disease 1 59
974 GRN051 Granulomatous Disease, Chronic, X-Linked 58
975 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58
976 P HLL001 Hallermann-Streiff Syndrome 58
977 STS003 Sitosterolemia 58
978 c CLR131 Ciliary Dyskinesia, Primary, 1 57
979 P ATR010 Atrial Heart Septal Defect 57
980 ANN002 Anencephaly 57
981 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 57
982 FCT003 Factor X Deficiency 57
983 P ANG015 Angioedema 57
984 EXF001 Exfoliation Syndrome 57
985 MTC007 Mitochondrial Complex I Deficiency 57
986 PRP032 Porphyria Variegata 57
987 PRT082 Preterm Premature Rupture of the Membranes 57
988 KLP010 Klippel-Trenaunay-Weber Syndrome 57
989 HYP810 Hypereosinophilic Syndrome, Idiopathic 57
990 P INF016 Infantile Epileptic Encephalopathy 57
991 c ACT075 Acute Myocardial Infarction 56
992 c WLF013 Wolfram Syndrome 1 56
993 P ERY058 Erythrocytosis, Familial, 1 56
994 P ICH004 Ichthyosis 56
995 P AGG001 Aggressive Periodontitis 56
996 c ANM036 Anemia, Sideroblastic, 1 56
997 P VNB005 Van Buchem Disease 56
998 P SPN052 Spondyloarthropathy 56
999 P CNG010 Congenital Stationary Night Blindness 56
1000 P HYP726 Hypercalcemia, Infantile, 1 55
1001 ASP002 Aspartylglucosaminuria 55
1002 CPR004 Coproporphyria, Hereditary 55
1003 HRL003 Hurler Syndrome 55
1004 OST024 Osteoporosis-Pseudoglioma Syndrome 55
1005 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 55
1006 c OST163 Osteopetrosis, Autosomal Recessive 3 55
1007 FCT001 Factor Viii Deficiency 55
1008 c CRN139 Cornelia De Lange Syndrome 1 55
1009 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1010 CHN055 Chanarin-Dorfman Syndrome 55
1011 MTC097 Mitochondrial Complex Iv Deficiency 54
1012 P INF049 Infantile Myofibromatosis 54
1013 MLT135 Multiple Sulfatase Deficiency 54
1014 c WRD033 Waardenburg Syndrome, Type 2e 54
1015 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
1016 ART002 Arts Syndrome 54
1017 c GCH016 Gaucher Disease, Type Ii 54
1018 c ACH041 Achondrogenesis, Type Ii 54
1019 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 54
1020 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 54
1021 RGH009 Right Atrial Isomerism 54
1022 P PRM002 Primary Hyperoxaluria 53
1023 NRL018 Neural Tube Defects, Folate-Sensitive 53
1024 GNR004 Generalized Anxiety Disorder 53
1025 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
1026 c CNT075 Central Precocious Puberty 53
1027 P OPN001 Open-Angle Glaucoma 53
1028 P GRS003 Griscelli Syndrome 53
1029 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 53
1030 TRS021 Triosephosphate Isomerase Deficiency 52
1031 c PSR017 Psoriasis 2 52
1032 WDH003 Woodhouse-Sakati Syndrome 52
1033 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 52
1034 GLC012 Galactosialidosis 52
1035 P MYM013 Moyamoya Disease 1 52
1036 c SCN036 Secondary Progressive Multiple Sclerosis 52
1037 P ACT010 Acth-Secreting Pituitary Adenoma 52
1038 c INV001 Invasive Aspergillosis 52
1039 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 52
1040 P GNG025 Gingival Fibromatosis 52
1041 c PRM108 Primary Progressive Multiple Sclerosis 52
1042 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
1043 c FNC042 Fanconi Anemia, Complementation Group D2 52
1044 PRP082 Porphyria, Congenital Erythropoietic 52
1045 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 52
1046 HYP741 Hyperparathyroidism 2 with Jaw Tumors 52
1047 P BRS053 Breast Fibroadenoma 51
1048 DRR008 Diarrhea 1, Secretory Chloride, Congenital 51
1049 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
1050 CTY001 Cat Eye Syndrome 51
1051 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 51
1052 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
1053 CCH002 Coach Syndrome 51
1054 BRT005 Barth Syndrome 51
1055 ACD008 Acid-Labile Subunit Deficiency 51
1056 P ALT001 Alternating Hemiplegia of Childhood 51
1057 ENH001 Enhanced S-Cone Syndrome 51
1058 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
1059 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
1060 c CCK007 Cockayne Syndrome B 51
1061 c FRS014 Fraser Syndrome 1 50
1062 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
1063 ORT008 Orotic Aciduria 50
1064 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
1065 MLB001 Mulibrey Nanism 50
1066 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
1067 ALL001 Allan-Herndon-Dudley Syndrome 50
1068 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
1069 P EPL116 Epileptic Encephalopathy, Childhood-Onset 50
1070 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
1071 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 49
1072 c PRX059 Peroxisome Biogenesis Disorder 1a 49
1073 c GCH017 Gaucher Disease, Type Iii 49
1074 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1075 RVS001 Revesz Syndrome 49
1076 PLY112 Polyarteritis Nodosa, Childhood-Onset 49
1077 JHN001 Johanson-Blizzard Syndrome 49
1078 c GRS014 Griscelli Syndrome, Type 2 49
1079 P TYR004 Tyrosinemia 49
1080 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
1081 c VNW008 Von Willebrand Disease, Type 3 49
1082 P DNR001 Duane Retraction Syndrome 49
1083 c MLT086 Multiple Endocrine Neoplasia, Type Iv 49
1084 FRB001 Farber Lipogranulomatosis 49
1085 P FNC044 Fanconi Anemia, Complementation Group C 49
1086 P ANL018 Analbuminemia 48
1087 c NNN012 Noonan Syndrome 5 48
1088 RNP003 Renpenning Syndrome 1 48
1089 DNN001 Danon Disease 48
1090 c BRD044 Bardet-Biedl Syndrome 17 48
1091 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
1092 c ALB019 Albinism, Oculocutaneous, Type Iv 48
1093 c SCH079 Schizophrenia 1 48
1094 ACR058 Acrofacial Dysostosis 1, Nager Type 48
1095 c WRD020 Waardenburg Syndrome, Type 4a 48
1096 TRN022 Transcobalamin Ii Deficiency 48
1097 P FNG006 Feingold Syndrome 1 48
1098 c CRP023 Carpenter Syndrome 1 48
1099 P PRK001 Porokeratosis 48
1100 P MTH007 Methemoglobinemia 48
1101 MCR165 Microphthalmia with Limb Anomalies 48
1102 c ANG068 Angioedema, Hereditary, Type I 48
1103 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 47
1104 P BNG032 Benign Mesothelioma 47
1105 c NRC009 Narcolepsy 1 47
1106 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 47
1107 c OPT051 Opitz Gbbb Syndrome, Type I 47
1108 P NNT009 Neonatal Diabetes Mellitus 47
1109 P CHN059 Chondrocalcinosis 47
1110 SND002 Sneddon Syndrome 47
1111 LPP002 Lipoprotein Glomerulopathy 47
1112 c BDY007 Body Mass Index Quantitative Trait Locus 1 47
1113 HRT031 Hartnup Disorder 47
1114 ATS010 Autosomal Recessive Disease 47
1115 c USH021 Usher Syndrome, Type Iid 47
1116 RST011 Restrictive Dermopathy, Lethal 47
1117 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
1118 P PSD003 Pseudohypoaldosteronism 47
1119 c SCK009 Seckel Syndrome 1 47
1120 P VSC013 Visceral Heterotaxy 47
1121 P MWT001 Mowat-Wilson Syndrome 46
1122 c WRD019 Waardenburg Syndrome, Type 4b 46
1123 P NLX004 Neu-Laxova Syndrome 1 46
1124 c WRD031 Waardenburg Syndrome, Type 3 46
1125 MNC019 Monocarboxylate Transporter 1 Deficiency 46
1126 c HYD064 Hydrocephalus, Congenital, 1 46
1127 c USH035 Usher Syndrome Type 2 46
1128 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 46
1129 ATM052 Autoimmune Disease 1 46
1130 c PSR028 Psoriasis 7 46
1131 P WHT013 White Sponge Nevus 1 46
1132 c HMC021 Hemochromatosis, Type 2a 46
1133 c PSR032 Psoriasis 11 46
1134 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 46
1135 ATS008 Autosomal Dominant Disease 46
1136 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1137 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
1138 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
1139 P HYP087 Hypotrichosis 46
1140 c SPH013 Spherocytosis, Type 1 46
1141 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
1142 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
1143 c ERL020 Early-Onset Schizophrenia 45
1144 c MYP072 Myopathy, Myofibrillar, 1 45
1145 CHN056 Chondrosarcoma, Extraskeletal Myxoid 45
1146 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 45
1147 MHR001 Mohr-Tranebjaerg Syndrome 45
1148 RBF001 Riboflavin Deficiency 45
1149 c NML003 Nemaline Myopathy 2 45
1150 c HYP507 Hypotrichosis 1 45
1151 c PSR018 Psoriasis 13 45
1152 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
1153 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
1154 c GLY023 Glycogen Storage Disease Type 0 45
1155 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
1156 c OTP007 Otopalatodigital Syndrome, Type Ii 45
1157 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
1158 c BRC060 Brachydactyly, Type E2 45
1159 c NML002 Nemaline Myopathy 1 44
1160 c FNC047 Fanconi Anemia, Complementation Group Q 44
1161 PKL001 Poikiloderma with Neutropenia 44
1162 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 44
1163 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 44
1164 P TRM004 Trimethylaminuria 44
1165 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
1166 c BRD033 Bardet-Biedl Syndrome 13 44
1167 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 44
1168 c MCK012 Meckel Syndrome, Type 6 44
1169 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
1170 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 44
1171 c ACR116 Aicardi-Goutieres Syndrome 1 44
1172 c NNN009 Noonan Syndrome 2 44
1173 c FNC058 Fanconi Anemia, Complementation Group R 44
1174 c HYP543 Hypoplastic Left Heart Syndrome 1 44
1175 PHS021 Phosphoglycerate Dehydrogenase Deficiency 44
1176 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
1177 NNC002 Nance-Horan Syndrome 43
1178 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
1179 NTR018 Neutrophilia, Hereditary 43
1180 c DYS146 Dystonia 24 43
1181 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 43
1182 c BRD048 Bardet-Biedl Syndrome 18 43
1183 c BRC062 Brachydactyly, Type D 43
1184 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 43
1185 c RTN143 Retinitis Pigmentosa 47 43
1186 c TYR011 Tyrosinemia, Type Iii 43
1187 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 43
1188 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 43
1189 RST023 Resting Heart Rate, Variation in 42
1190 c ALB015 Albinism, Oculocutaneous, Type V 42
1191 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 42
1192 MRG013 Mirage Syndrome 42
1193 c FNC056 Fanconi Anemia, Complementation Group V 42
1194 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 42
1195 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
1196 P JVN024 Juvenile Hereditary Hemochromatosis 42
1197 c NML005 Nemaline Myopathy 4 42
1198 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
1199 c FNC052 Fanconi Anemia, Complementation Group T 42
1200 FRG010 Fragile X Tremor/ataxia Syndrome 42
1201 HYL004 Hyaline Fibromatosis Syndrome 42
1202 MYP139 Myopathy, Proximal, and Ophthalmoplegia 42
1203 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 42
1204 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 42
1205 c NML004 Nemaline Myopathy 3 42
1206 CRN285 Corneal Dystrophy, Fleck 42
1207 CHR382 Chromosome 18q Deletion Syndrome 42
1208 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
1209 SPN331 Spondyloocular Syndrome 42
1210 c RTN160 Retinitis Pigmentosa 60 42
1211 P XNT004 Xanthinuria 42
1212 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 42
1213 c BRD035 Bardet-Biedl Syndrome 15 42
1214 c AMY069 Amyotrophic Lateral Sclerosis 21 42
1215 c MCR263 Microphthalmia, Syndromic 1 42
1216 c 3MT014 3-Methylglutaconic Aciduria, Type V 42
1217 c GLY098 Glycogen Storage Disease, Type Ixd 42
1218 HTR014 Heterotaxy, Visceral, 1, X-Linked 41
1219 c FNC025 Fanconi Anemia, Complementation Group J 41
1220 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
1221 KBG001 Kbg Syndrome 41
1222 MYH012 Myhre Syndrome 41
1223 c RTN050 Retinitis Pigmentosa 20 41
1224 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
1225 c FNC045 Fanconi Anemia, Complementation Group F 41
1226 c FNC029 Fanconi Anemia, Complementation Group I 41
1227 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
1228 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
1229 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 41
1230 c CTR130 Cataract 9, Multiple Types 41
1231 c PRM212 Primary Microcephaly 41
1232 GNT031 Genitopatellar Syndrome 41
1233 ALR002 Al-Raqad Syndrome 41
1234 c FNC057 Fanconi Anemia, Complementation Group U 41
1235 c HNT004 Huntington Disease-Like 2 41
1236 P CNG003 Congenital Dyserythropoietic Anemia 41
1237 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
1238 P DNT009 Dentin Dysplasia 41
1239 c RTN177 Retinitis Pigmentosa 73 41
1240 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1241 LYM029 Lymphedema-Distichiasis Syndrome 41
1242 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 41
1243 c PNT049 Pontocerebellar Hypoplasia, Type 2d 41
1244 c GLL038 Galloway-Mowat Syndrome 1 40
1245 c ALB016 Albinism, Oculocutaneous, Type Vii 40
1246 c RTN172 Retinitis Pigmentosa 1 40
1247 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 40
1248 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
1249 c SCK015 Seckel Syndrome 2 40
1250 c RTN048 Retinitis Pigmentosa 19 40
1251 c SCP001 Sc Phocomelia Syndrome 40
1252 c FNC032 Fanconi Anemia, Complementation Group B 40
1253 P DYS005 Dyslexia 40
1254 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
1255 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1256 c SPL034 Split-Hand/foot Malformation 4 40
1257 P OCY003 Oocyte Maturation Defect 1 40
1258 c LNG096 Long Qt Syndrome 15 40
1259 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
1260 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
1261 c USH041 Usher Syndrome, Type if 40
1262 ATX038 Ataxia and Polyneuropathy, Adult-Onset 40
1263 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 40
1264 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
1265 SNL007 Senile Cataract 40
1266 INS034 Insulinomatosis and Diabetes Mellitus 40
1267 c KNB006 Knobloch Syndrome 1 40
1268 c ERL056 Early-Onset Parkinson's Disease 40
1269 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
1270 c LNG057 Long Qt Syndrome 13 40
1271 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
1272 NNK001 Nonaka Myopathy 40
1273 c VNM003 Van Maldergem Syndrome 1 40
1274 C1Q001 C1q Deficiency 40
1275 P GNG010 Gangliosidosis Gm2 40
1276 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
1277 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
1278 PLY068 Polysubstance Abuse 40
1279 c NNN011 Noonan Syndrome 4 40
1280 P LSS024 Lissencephaly with Cerebellar Hypoplasia 39
1281 c RTS003 Ritscher-Schinzel Syndrome 1 39
1282 c JBR015 Joubert Syndrome 6 39
1283 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
1284 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1285 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
1286 c RTN136 Retinitis Pigmentosa 44 39
1287 OVR093 Overhydrated Hereditary Stomatocytosis 39
1288 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
1289 c NNN013 Noonan Syndrome 6 39
1290 CHR667 Chromosome 3pter-P25 Deletion Syndrome 39
1291 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
1292 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1293 c JBR024 Joubert Syndrome 14 39
1294 HYP550 Hypomagnesemia 1, Intestinal 39
1295 P JVN008 Juvenile Glaucoma 39
1296 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 39
1297 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 39
1298 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 39
1299 c BRD032 Bardet-Biedl Syndrome 14 39
1300 P PRT042 Parietal Foramina 39
1301 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 39
1302 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
1303 c CTR118 Cataract 14, Multiple Types 39
1304 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
1305 GLC084 Glaucoma, Normal Tension 39
1306 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
1307 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 39
1308 c CNR023 Cone-Rod Dystrophy 8 38
1309 DPH019 Diaphanospondylodysostosis 38
1310 HRL004 Hurler-Scheie Syndrome 38
1311 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 38
1312 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
1313 c RTN142 Retinitis Pigmentosa 38 38
1314 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 38
1315 c RTN090 Retinitis Pigmentosa 55 38
1316 c FNC023 Fanconi Anemia, Complementation Group N 38
1317 c MCR124 Microphthalmia, Isolated 1 38
1318 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
1319 c CTR115 Cataract 16, Multiple Types 38
1320 c MCL016 Mucolipidosis Iii Gamma 38
1321 P MCR364 Macrodactyly 38
1322 c EPS017 Episodic Ataxia, Type 6 38
1323 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
1324 c CNR016 Cone-Rod Dystrophy 7 38
1325 c ZMM002 Zimmermann-Laband Syndrome 1 38
1326 c OST126 Osteopetrosis, Autosomal Recessive 1 38
1327 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 38
1328 c WRB005 Warburg Micro Syndrome 4 38
1329 c RTN043 Retinitis Pigmentosa 13 38
1330 ATR013 Atrichia with Papular Lesions 38
1331 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
1332 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 38
1333 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
1334 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
1335 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 38
1336 c MCP051 Mucopolysaccharidosis, Type Ix 38
1337 c SPL070 Split-Hand/foot Malformation 2 38
1338 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
1339 c FNC028 Fanconi Anemia, Complementation Group L 37
1340 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 37
1341 c MCL066 Macular Dystrophy, Vitelliform, 2 37
1342 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 37
1343 c HYP559 Hypotrichosis 8 37
1344 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1345 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
1346 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1347 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
1348 c HYP581 Hypotrichosis 6 37
1349 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 37
1350 HYP540 Hypertension, Diastolic 37
1351 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 37
1352 GLY032 Glycosylphosphatidylinositol Deficiency 37
1353 c USH042 Usher Syndrome, Type Ig 37
1354 c INF086 Inflammatory Bowel Disease 3 37
1355 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 37
1356 c NRC010 Narcolepsy 2 37
1357 EST007 Estrogen Resistance 37
1358 MND025 Mandibulofacial Dysostosis with Alopecia 37
1359 c CTR170 Cataract 30, Multiple Types 37
1360 HYP110 Hyperproinsulinemia 37
1361 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
1362 WRS002 Warsaw Breakage Syndrome 37
1363 P ANT061 Antenatal Bartter Syndrome 37
1364 c WRD024 Waardenburg Syndrome, Type 4c 37
1365 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
1366 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1367 FNC030 Fanconi Anemia, Complementation Group G 37
1368 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
1369 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
1370 c BRT038 Baraitser-Winter Syndrome 1 37
1371 c SPH016 Spherocytosis, Type 4 37
1372 c MCK014 Meckel Syndrome, Type 5 37
1373 OGD001 Ogden Syndrome 37
1374 c CTR098 Cataract 1, Multiple Types 37
1375 CHR387 Chromosome Xp21 Deletion Syndrome 37
1376 EPT021 Epithelial Recurrent Erosion Dystrophy 37
1377 c SPR094 Sporadic Pheochromocytoma 36
1378 GLS018 Glass Syndrome 36
1379 NTR007 Neutral Lipid Storage Disease with Myopathy 36
1380 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
1381 c CNG188 Congenital Disorder of Glycosylation, Type if 36
1382 c NNN021 Noonan Syndrome 8 36
1383 c HMN027 Hemangioma, Capillary Infantile 36
1384 CLR133 Colorblindness, Partial, Protan Series 36
1385 c RTN066 Retinitis Pigmentosa 4 36
1386 c ATS076 Autosomal Recessive Stickler Syndrome 36
1387 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 36
1388 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 36
1389 P SPS008 Spastic Ataxia 36
1390 PRM087 Premature Chromatid Separation Trait 36
1391 OHD005 Ohdo Syndrome, Sbbys Variant 36
1392 SNG007 Sengers Syndrome 36
1393 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
1394 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 36
1395 GPS001 Gapo Syndrome 36
1396 ALG027 Al-Gazali-Bakalinova Syndrome 36
1397 c INF087 Inflammatory Bowel Disease 4 36
1398 c PRK025 Parkinson Disease 10 36
1399 INF159 Infantile Sialic Acid Storage Disease 36
1400 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 36
1401 c RTN186 Retinitis Pigmentosa 75 36
1402 c CNR017 Cone-Rod Dystrophy 9 36
1403 P GLP001 Geleophysic Dysplasia 36
1404 c BRD045 Bardet-Biedl Syndrome 19 36
1405 SCR035 Sacral Agenesis with Vertebral Anomalies 36
1406 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
1407 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
1408 c NNN024 Noonan Syndrome 9 36
1409 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
1410 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 36
1411 FLT009 Folate Malabsorption, Hereditary 36
1412 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 35
1413 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 35
1414 c ATR031 Atrial Septal Defect 4 35
1415 PTT045 Pituitary Hormone Deficiency, Combined, 1 35
1416 c LBR007 Leber Congenital Amaurosis 12 35
1417 PRM056 Primrose Syndrome 35
1418 STL007 Steel Syndrome 35
1419 c CTR122 Cataract 5, Multiple Types 35
1420 c WRB003 Warburg Micro Syndrome 2 35
1421 c LNG056 Long Qt Syndrome 12 35
1422 c CNG379 Congenital Disorder of Glycosylation, Type It 35
1423 c AML020 Amelogenesis Imperfecta, Type Iv 35
1424 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 35
1425 BRB006 Barber-Say Syndrome 35
1426 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
1427 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 35
1428 ACR043 Acromicric Dysplasia 35
1429 c SPH014 Spherocytosis, Type 2 35
1430 c SPL033 Split-Hand/foot Malformation 6 35
1431 c PRM032 Primary Congenital Glaucoma 35
1432 c RTN171 Retinitis Pigmentosa 59 35
1433 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
1434 c SPH015 Spherocytosis, Type 3 35
1435 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 35
1436 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
1437 c MCK033 Meckel Syndrome, Type 4 35
1438 TRM011 Terminal Osseous Dysplasia 35
1439 c FNC048 Fanconi Anemia, Complementation Group O 35
1440 PRK003 Parkes Weber Syndrome 35
1441 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
1442 c MTC060 Mitochondrial Dna Depletion Syndrome 9 35
1443 CHR501 Chromosome 17q12 Deletion Syndrome 35
1444 c RTN051 Retinitis Pigmentosa 22 35
1445 DBT007 Diabetic Cataract 35
1446 c HRD173 Hereditary Late-Onset Parkinson Disease 35
1447 ATN014 Autoinflammation with Arthritis and Dyskeratosis 35
1448 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
1449 c BRD047 Bardet-Biedl Syndrome 16 35
1450 c MLG157 Malignant Pheochromocytoma 34
1451 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 34
1452 c LPR022 Leprosy 2 34
1453 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 34
1454 c CTR174 Cataract 40 34
1455 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 34
1456 P 3MT007 3-Methylglutaconic Aciduria 34
1457 P SPC019 Specific Language Impairment 34
1458 P CHR084 Chromosomal Disease 34
1459 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 34
1460 c HRD142 Hereditary Xanthinuria 34
1461 LGN006 Legionnaire Disease 34
1462 c PRC031 Preeclampsia/eclampsia 1 34
1463 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 34
1464 c RTN055 Retinitis Pigmentosa 26 34
1465 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
1466 c LBR011 Leber Congenital Amaurosis 16 34
1467 c RTN165 Retinitis Pigmentosa 68 34
1468 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 34
1469 c CTR103 Cataract 4, Multiple Types 34
1470 c KLF004 Kleefstra Syndrome 1 34
1471 c RTN047 Retinitis Pigmentosa 18 34
1472 c OVR075 Ovarian Dysgenesis 1 34
1473 c RTN210 Retinitis Pigmentosa 50 34
1474 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
1475 c RTN133 Retinitis Pigmentosa 43 34
1476 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 34
1477 c RTN149 Retinitis Pigmentosa 42 34
1478 c CTR141 Cataract 21, Multiple Types 34
1479 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
1480 IMM002 Immature Cataract 34
1481 c HTR021 Heterotaxy, Visceral, 5, Autosomal 34
1482 CLC008 Colchicine Resistance 34
1483 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 34
1484 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1485 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
1486 CRT045 Creatine Phosphokinase, Elevated Serum 33
1487 c SPL025 Split-Hand/foot Malformation 5 33
1488 c GLP003 Geleophysic Dysplasia 1 33
1489 c WLL036 Weill-Marchesani Syndrome 1 33
1490 c DYS067 Dystonia 6, Torsion 33
1491 P BCT020 Bacteremia 2 33
1492 c THY084 Thyrotoxic Periodic Paralysis 1 33
1493 c EPL133 Epilepsy, Juvenile Absence 1 33
1494 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 33
1495 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 33
1496 KLL014 Kelley-Seegmiller Syndrome 33
1497 c MCK034 Meckel Syndrome, Type 8 33
1498 CRD220 Cardiac Valvular Defect, Developmental 33
1499 c MYP079 Myopathy, Myofibrillar, 5 33
1500 c RTN062 Retinitis Pigmentosa 33 33
1501 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
1502 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 33
1503 CRB081 Cerebellar Ataxia, Cayman Type 33
1504 GBT001 Gaba-Transaminase Deficiency 33
1505 CHR377 Chromosome 10q26 Deletion Syndrome 33
1506 OLV004 Oliver-Mcfarlane Syndrome 33
1507 c SCH082 Schizophrenia 5 33
1508 P WRB001 Warburg Micro Syndrome 33
1509 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 33
1510 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1511 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 33
1512 HSD004 Hsd10 Mitochondrial Disease 33
1513 P ATL001 Atelosteogenesis 33
1514 PHS022 Phosphoserine Phosphatase Deficiency 33
1515 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1516 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
1517 c AML057 Amelogenesis Imperfecta, Type Iiia 33
1518 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
1519 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 33
1520 MCR096 Macrocephaly/autism Syndrome 33
1521 c CTR125 Cataract 7 33
1522 c JBR041 Joubert Syndrome 3 33
1523 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
1524 c JBR025 Joubert Syndrome 17 33
1525 c RTN059 Retinitis Pigmentosa 30 33
1526 c AML017 Amelogenesis Imperfecta, Type Ib 33
1527 P OMD003 Omodysplasia 33
1528 P NNS031 Non-Syndromic Intellectual Disability 33
1529 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 33
1530 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 32
1531 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1532 c INF092 Inflammatory Bowel Disease 9 32
1533 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 32
1534 c RTN056 Retinitis Pigmentosa 28 32
1535 P ATR022 Atrial Septal Defect 3 32
1536 BRC004 Brachydactyly-Syndactyly Syndrome 32
1537 c ALZ062 Alzheimer Disease 19 32
1538 CMP040 Complement Component 4, Partial Deficiency of 32
1539 c RTN134 Retinitis Pigmentosa 40 32
1540 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 32
1541 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
1542 CMB020 Combined Saposin Deficiency 32
1543 c CNR013 Cone-Rod Dystrophy 12 32
1544 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
1545 c HYP515 Hypotrichosis 3 32
1546 c PRD039 Periodontitis, Aggressive, 1 32
1547 c CND011 Cone Dystrophy 3 32
1548 ANG049 Angioedema Induced by Ace Inhibitors 32
1549 c CTR145 Cataract 44 32
1550 c DMN021 Diamond-Blackfan Anemia 6 32
1551 SRC015 Sarcosinemia 32
1552 c GLP004 Geleophysic Dysplasia 2 32
1553 c APL023 Aplasia Cutis Congenita, Nonsyndromic 32
1554 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1555 c NGH007 Night Blindness, Congenital Stationary, Type 1b 32
1556 CLD003 Cold-Induced Sweating Syndrome 32
1557 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 32
1558 ARL004 Aural Atresia, Congenital 32
1559 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 32
1560 c RTN129 Retinitis Pigmentosa 49 32
1561 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
1562 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
1563 BSL037 Basal Laminar Drusen 31
1564 CMP089 Complement Component 6 Deficiency 31
1565 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
1566 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
1567 c RTN131 Retinitis Pigmentosa 27 31
1568 c RTN046 Retinitis Pigmentosa 17 31
1569 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
1570 c RTN068 Retinitis Pigmentosa 6 31
1571 P HYP700 Hypomyelinating Leukodystrophy 31
1572 c WLL037 Weill-Marchesani Syndrome 2 31
1573 c NNN025 Noonan Syndrome 10 31
1574 c ATR062 Atrial Septal Defect 1 31
1575 c SCH080 Schizophrenia 3 31
1576 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
1577 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 31
1578 c ACQ047 Acquired Methemoglobinemia 31
1579 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 31
1580 CRY019 Cryohydrocytosis 31
1581 c RTN116 Retinitis Pigmentosa 56 31
1582 P BST001 Bestrophinopathy 31
1583 c GLC078 Glaucoma 1, Open Angle, F 31
1584 SVN002 Sveinsson Chorioretinal Atrophy 31
1585 c BST008 Bestrophinopathy, Autosomal Recessive 31
1586 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
1587 PRT130 Protein Z Deficiency 31
1588 c ATS307 Autosomal Recessive Cerebellar Ataxia 31
1589 CHT006 Chitayat Syndrome 31
1590 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 31
1591 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
1592 c MTC059 Mitochondrial Dna Depletion Syndrome 5 31
1593 TKN001 Takenouchi-Kosaki Syndrome 31
1594 c THY083 Thyrotoxic Periodic Paralysis 2 31
1595 c ACQ027 Acquired Cutis Laxa 31
1596 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 31
1597 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
1598 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
1599 c CTR158 Cataract 37 31
1600 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 31
1601 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
1602 c CRN109 Cranioectodermal Dysplasia 2 31
1603 MYC071 Myoclonic-Atonic Epilepsy 31
1604 c SCK011 Seckel Syndrome 5 31
1605 HRD073 Hereditary Myopathy with Early Respiratory Failure 31
1606 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 31
1607 RBS005 Ribose 5-Phosphate Isomerase Deficiency 31
1608 c MYT027 Myotonia Congenita, Autosomal Dominant 30
1609 c RTN114 Retinitis Pigmentosa 58 30
1610 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 30
1611 c LBR013 Leber Congenital Amaurosis 3 30
1612 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
1613 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
1614 P BRW001 Brown-Vialetto-Van Laere Syndrome 30
1615 ALZ030 Alazami Syndrome 30
1616 c USH031 Usher Syndrome, Type Ij 30
1617 c GLY057 Glycogen Storage Disease X 30
1618 c MYP080 Myopathy, Myofibrillar, 4 30
1619 c NNS043 Nonsyndromic Retinitis Pigmentosa 30
1620 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1621 GLT005 Glutamate Formiminotransferase Deficiency 30
1622 P SPS012 Spastic Paraplegia 3a 30
1623 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
1624 c RTN054 Retinitis Pigmentosa 25 30
1625 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
1626 c SCK010 Seckel Syndrome 4 30
1627 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
1628 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
1629 c RTN042 Retinitis Pigmentosa 12 30
1630 c RTN152 Retinitis Pigmentosa 66 30
1631 c ACR081 Aicardi-Goutieres Syndrome 6 30
1632 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1633 PRT131 Partial Trisomy Distal 4q 30
1634 c MTC088 Mitochondrial Dna Depletion Syndrome 13 30
1635 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 30
1636 c STS007 Sotos Syndrome 2 30
1637 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
1638 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
1639 c DYS139 Dyschromatosis Universalis Hereditaria 3 30
1640 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 30
1641 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 30
1642 MCR183 Microcephaly-Capillary Malformation Syndrome 30
1643 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 30
1644 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
1645 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
1646 WTT002 Witteveen-Kolk Syndrome 29
1647 c PRX056 Peroxisome Biogenesis Disorder 11b 29
1648 ACR004 Acrokeratosis Verruciformis 29
1649 PLY110 Polymicrogyria, Bilateral Temporooccipital 29
1650 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
1651 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 29
1652 P ATX039 Ataxia-Pancytopenia Syndrome 29
1653 c ART104 Arthrogryposis, Distal, Type 5d 29
1654 VND005 Van Den Ende-Gupta Syndrome 29
1655 MYP097 Myopathy with Lactic Acidosis, Hereditary 29
1656 DRR013 Diarrhea 8, Secretory Sodium, Congenital 29
1657 c HRD186 Hereditary Spastic Paraplegia 51 29
1658 c HYP577 Hypotrichosis 13 29
1659 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1660 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1661 c RTN044 Retinitis Pigmentosa 14 29
1662 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 29
1663 LSC003 Luscan-Lumish Syndrome 29
1664 c ERL012 Early-Onset Glaucoma 29
1665 c USH030 Usher Syndrome, Type Ik 29
1666 ALZ029 Alzheimer Disease Mitochondrial 29
1667 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1668 c ATR066 Atrial Septal Defect 2 29
1669 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
1670 HYP267 Hyperchlorhidrosis, Isolated 29
1671 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
1672 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 29
1673 P RTS001 Ritscher-Schinzel Syndrome 29
1674 P CRN249 Cornea Plana 29
1675 PRP093 Pierpont Syndrome 29
1676 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
1677 c TYP035 Type 1 Diabetes Mellitus 11 29
1678 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 29
1679 FLP001 Filippi Syndrome 29
1680 c RBN008 Rubinstein-Taybi Syndrome 2 29
1681 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
1682 c RTN150 Retinitis Pigmentosa 10 29
1683 c GLY017 Glycogen Storage Disease Ic 29
1684 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
1685 BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 29
1686 c EPS015 Episodic Ataxia, Type 7 29
1687 c RTN057 Retinitis Pigmentosa 29 29
1688 P DXT004 Dextro-Looped Transposition of the Great Arteries 29
1689 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
1690 c NPH102 Nephrotic Syndrome, Type 14 29
1691 c STR092 Striatal Degeneration, Autosomal Dominant 2 29
1692 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 29
1693 c CTR175 Cataract 24 29
1694 c JBR014 Joubert Syndrome 9 29
1695 c PRX060 Peroxisome Biogenesis Disorder 5a 29
1696 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 29
1697 BMB001 Bombay Phenotype 29
1698 c NNN020 Noonan Syndrome 7 29
1699 c TYP037 Type 1 Diabetes Mellitus 13 29
1700 c RTN053 Retinitis Pigmentosa 24 29
1701 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
1702 STR099 Striatonigral Degeneration, Infantile, Mitochondrial 28
1703 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 28
1704 c INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 28
1705 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 28
1706 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
1707 CHT005 Chitotriosidase Deficiency 28
1708 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
1709 c TYP032 Type 1 Diabetes Mellitus 6 28
1710 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
1711 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1712 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
1713 c INF089 Inflammatory Bowel Disease 6 28
1714 c BRT039 Baraitser-Winter Syndrome 2 28
1715 P TRC031 Trichorhinophalangeal Syndrome 28
1716 c RTN106 Retinitis Pigmentosa 51 28
1717 CRB147 Cerebellofaciodental Syndrome 28
1718 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1719 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
1720 c CTR121 Cataract 25 28
1721 c RBN020 Robinow Syndrome, Autosomal Dominant 3 28
1722 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
1723 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
1724 LRY022 Laryngoonychocutaneous Syndrome 28
1725 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
1726 c AMY089 Amyotrophic Lateral Sclerosis 7 28
1727 c SYN084 Synpolydactyly 1 28
1728 MST021 Meester-Loeys Syndrome 28
1729 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 28
1730 c SYM022 Symphalangism, Proximal, 1a 28
1731 P DSB002 Desbuquois Dysplasia 28
1732 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
1733 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
1734 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 28
1735 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1736 CHR399 Chromosome 4q21 Deletion Syndrome 28
1737 c JBR012 Joubert Syndrome 5 28
1738 P TRG016 Trigonocephaly 1 28
1739 P SCP010 Scapuloperoneal Myopathy 28
1740 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 28
1741 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
1742 c PST001 Posterior Myocardial Infarction 28
1743 c INF078 Inflammatory Bowel Disease 2 28
1744 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 28
1745 APL024 Apolipoprotein C-Iii Deficiency 28
1746 c FNC062 Fanconi Anemia, Complementation Group S 28
1747 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 28
1748 PHS014 Phosphoglycerate Kinase 1 Deficiency 28
1749 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 28
1750 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 28
1751 TTT001 Tatton-Brown-Rahman Syndrome 27
1752 c PRX054 Peroxisome Biogenesis Disorder 12a 27
1753 SCH037 Schinzel-Giedion Midface Retraction Syndrome 27
1754 c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 27
1755 c MYS067 Myasthenic Syndrome, Congenital, 22 27
1756 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
1757 PRK066 Parkinsonism with Spasticity, X-Linked 27
1758 c JBR016 Joubert Syndrome 10 27
1759 c LBR009 Leber Congenital Amaurosis 14 27
1760 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
1761 c PNT039 Pontocerebellar Hypoplasia, Type 7 27
1762 c TYP033 Type 1 Diabetes Mellitus 7 27
1763 c ART122 Arthrogryposis, Distal, Type 8 27
1764 P KNN002 Kenny-Caffey Syndrome 27
1765 c SCH081 Schizophrenia 6 27
1766 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
1767 c RTN052 Retinitis Pigmentosa 23 27
1768 c CLR091 Ciliary Dyskinesia, Primary, 14 27
1769 c INF075 Inflammatory Bowel Disease 16 27
1770 c CTR124 Cataract 10, Multiple Types 27
1771 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
1772 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
1773 c RTN146 Retinitis Pigmentosa 62 27
1774 KPP002 Keppen-Lubinsky Syndrome 27
1775 ANH003 Anhaptoglobinemia 27
1776 HYP823 Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 27
1777 CLR132 Colorblindness, Partial, Deutan Series 27
1778 c PRX050 Peroxisome Biogenesis Disorder 9b 27
1779 c CRP022 Carpenter Syndrome 2 27
1780 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 27
1781 c INF088 Inflammatory Bowel Disease 5 27
1782 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
1783 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
1784 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 27
1785 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
1786 c LNG098 Long Qt Syndrome 14 27
1787 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 27
1788 c MYP148 Myopathy, Centronuclear, 5 27
1789 c PSD107 Pseudo-Torch Syndrome 2 27
1790 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
1791 CYN002 Cyanosis, Transient Neonatal 27
1792 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 27
1793 c PRT060 Parietal Foramina 2 27
1794 c INF122 Infantile Krabbe Disease 27
1795 c MCR352 Microphthalmia, Isolated, with Coloboma 6 27
1796 SPC026 Specific Granule Deficiency 1 27
1797 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
1798 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 27
1799 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
1800 P INV008 Invasive Pneumococcal Disease, Recurrent Isolated, 1 27
1801 c ANG045 Angioedema, Hereditary, Type Iii 27
1802 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 26
1803 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
1804 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 26
1805 c PRR026 Perrault Syndrome 5 26
1806 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
1807 c MYC058 Myocardial Infarction 2 26
1808 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 26
1809 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 26
1810 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 26
1811 c OST120 Osteopetrosis, Autosomal Recessive 5 26
1812 GBR007 Gabriele-De Vries Syndrome 26
1813 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1814 c BRD050 Bardet-Biedl Syndrome 21 26
1815 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
1816 c ALB017 Albinism, Oculocutaneous, Type Vi 26
1817 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
1818 MLR020 Malaria, Mild 26
1819 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
1820 c SPH017 Spherocytosis, Type 5 26
1821 c TYP028 Type 1 Diabetes Mellitus 2 26
1822 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 26
1823 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 26
1824 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 26
1825 c GLL027 Gallbladder Disease 4 26
1826 c FRN033 Frontonasal Dysplasia 2 26
1827 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
1828 HMX003 Heme Oxygenase 1 Deficiency 26
1829 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 26
1830 ELS006 Elsahy-Waters Syndrome 26
1831 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 26
1832 c AST056 Asthma-Related Traits 2 26
1833 c RTN176 Retinitis Pigmentosa 71 26
1834 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
1835 P AST055 Asthma-Related Traits 1 26
1836 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 26
1837 c MCL078 Macular Degeneration, Age-Related, 14 26
1838 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
1839 ALK023 Al Kaissi Syndrome 26
1840 c INF002 Inflammatory Diarrhea 26
1841 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 26
1842 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
1843 c CTR166 Cataract 33, Multiple Types 26
1844 c JBR031 Joubert Syndrome 21 26
1845 c AMY055 Amyotrophic Lateral Sclerosis 17 26
1846 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 26
1847 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
1848 GLT028 Glutaric Aciduria Iii 26
1849 c RTN169 Retinitis Pigmentosa 70 26
1850 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
1851 c TRG015 Trigonocephaly 2 26
1852 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 26
1853 c MRG015 Meier-Gorlin Syndrome 7 26
1854 c HYP525 Hypotrichosis 2 26
1855 c MCK028 Meckel Syndrome 13 26
1856 HST022 Histiocytoma, Angiomatoid Fibrous 26
1857 c MYP127 Myopia 2, Autosomal Dominant 25
1858 c DRR009 Diarrhea 6 25
1859 c RTN190 Retinitis Pigmentosa 76 25
1860 c NML022 Nemaline Myopathy 10 25
1861 LMB069 Lamb-Shaffer Syndrome 25
1862 c DMN017 Diamond-Blackfan Anemia 10 25
1863 c SPN418 Spinocerebellar Ataxia 44 25
1864 c JBR013 Joubert Syndrome 8 25
1865 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 25
1866 c KRT029 Keratoconus 1 25
1867 c PRX043 Peroxisome Biogenesis Disorder 6b 25
1868 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1869 c TYP036 Type 1 Diabetes Mellitus 12 25
1870 XLN228 X-Linked Recessive Disease 25
1871 P HRD144 Hereditary Mixed Polyposis Syndrome 25
1872 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
1873 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 25
1874 c DSB005 Desbuquois Dysplasia 2 25
1875 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
1876 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
1877 PGM007 Pigmented Paravenous Chorioretinal Atrophy 25
1878 c GLY001 Glycogen Storage Disease Ix 25
1879 c CRT085 Carotid Intimal Medial Thickness 2 25
1880 c RTN060 Retinitis Pigmentosa 31 25
1881 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
1882 c MRG010 Meier-Gorlin Syndrome 3 25
1883 VCT004 Vacterl Association with Hydrocephalus 25
1884 c WLL040 Weill-Marchesani Syndrome 4 25
1885 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25
1886 c DMN022 Diamond-Blackfan Anemia 9 25
1887 c CLR090 Ciliary Dyskinesia, Primary, 22 25
1888 c KBK003 Kabuki Syndrome 2 25
1889 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 25
1890 c PRK093 Parkinson Disease 8, Autosomal Dominant 25
1891 c PRC047 Precocious Puberty, Central, 1 25
1892 c CRN215 Cornelia De Lange Syndrome 4 25
1893 c CWD008 Cowden Syndrome 6 25
1894 ECT076 Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 25
1895 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1896 c PRX048 Peroxisome Biogenesis Disorder 10a 25
1897 c ELL010 Elliptocytosis 1 25
1898 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
1899 c CLR066 Ciliary Dyskinesia, Primary, 2 25
1900 c PRX046 Peroxisome Biogenesis Disorder 7a 25
1901 c CLR114 Ciliary Dyskinesia, Primary, 30 25
1902 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 25
1903 ECT033 Ectopia Lentis Et Pupillae 25
1904 CMP041 Complement Factor D Deficiency 25
1905 c JBR030 Joubert Syndrome 22 25
1906 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1907 c SPN259 Spinocerebellar Ataxia 32 25
1908 c STR040 Stargardt Disease 3 25
1909 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 25
1910 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 25
1911 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 25
1912 PSD078 Pseudofolliculitis Barbae 25
1913 c TYP031 Type 1 Diabetes Mellitus 5 25
1914 MRG001 Morgagni Cataract 25
1915 CMP094 Complement Component 4b Deficiency 25
1916 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 25
1917 CHR366 Chromosome 5p13 Duplication Syndrome 25
1918 c PRX057 Peroxisome Biogenesis Disorder 4a 25
1919 c SPN421 Spinocerebellar Ataxia 47 25
1920 EPP011 Epiphyseal Chondrodysplasia, Miura Type 25
1921 FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 25
1922 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 25
1923 ALP072 Alpha-Fetoprotein Deficiency 25
1924 c FRN032 Frontonasal Dysplasia 3 25
1925 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 25
1926 c HRM020 Hermansky-Pudlak Syndrome 10 25
1927 c RTN178 Retinitis Pigmentosa 72 25
1928 c SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 25
1929 c RTN159 Retinitis Pigmentosa 45 25
1930 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 25
1931 c MCK035 Meckel Syndrome, Type 10 25
1932 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 25
1933 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
1934 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 24
1935 c PRX065 Peroxisome Biogenesis Disorder 3a 24
1936 c SPS142 Spastic Ataxia 2, Autosomal Recessive 24
1937 CHR379 Chromosome 15q26-Qter Deletion Syndrome 24
1938 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
1939 c ERL003 Early Onset Absence Epilepsy 24
1940 c MCR137 Microphthalmia, Isolated 2 24
1941 c ATS370 Autism 3 24
1942 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1943 c MCL043 Macular Degeneration, Age-Related, 2 24
1944 c CWD004 Cowden Syndrome 5 24
1945 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 24
1946 c TYP027 Type 1 Diabetes Mellitus 10 24
1947 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
1948 c PRX051 Peroxisome Biogenesis Disorder 6a 24
1949 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
1950 ZNC004 Zinc Deficiency, Transient Neonatal 24
1951 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
1952 P VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 24
1953 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 24
1954 c VNM002 Van Maldergem Syndrome 2 24
1955 c GLL040 Galloway-Mowat Syndrome 3 24
1956 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 24
1957 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
1958 c SPN323 Spinocerebellar Ataxia 41 24
1959 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 24
1960 c OTF003 Otofaciocervical Syndrome 2 24
1961 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1962 c DYS145 Dystonia 23 24
1963 c FRD006 Friedreich Ataxia 2 24
1964 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
1965 c NGH027 Night Blindness, Congenital Stationary, Type 1c 24
1966 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
1967 VSD001 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 24
1968 c CRN209 Cornelia De Lange Syndrome 5 24
1969 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
1970 c ALZ045 Alzheimer Disease 9 24
1971 c RTN064 Retinitis Pigmentosa 35 24
1972 c JBR037 Joubert Syndrome 26 24
1973 LCT013 Lactase Deficiency, Congenital 24
1974 c JBR018 Joubert Syndrome 4 24
1975 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
1976 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
1977 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 24
1978 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 24
1979 c BRD051 Bardet-Biedl Syndrome 20 24
1980 c SCK029 Seckel Syndrome 7 24
1981 SDH011 Sedoheptulokinase Deficiency 24
1982 c FNG009 Feingold Syndrome 2 24
1983 c WRB004 Warburg Micro Syndrome 3 24
1984 P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 24
1985 c MCR228 Microphthalmia, Syndromic 13 24
1986 c PRX052 Peroxisome Biogenesis Disorder 13a 24
1987 c PRX058 Peroxisome Biogenesis Disorder 4b 24
1988 c LTH047 Lethal Congenital Contracture Syndrome 3 24
1989 c RTN147 Retinitis Pigmentosa 48 24
1990 P PST016 Posterior Polar Cataract 24
1991 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
1992 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
1993 c DMN019 Diamond-Blackfan Anemia 4 24
1994 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 24
1995 c CNR032 Cone-Rod Dystrophy 21 24
1996 c TYP038 Type 1 Diabetes Mellitus 15 24
1997 SKR001 Skraban-Deardorff Syndrome 24
1998 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 24
1999 CMB064 Combined Oxidative Phosphorylation Deficiency 24 24
2000 c MYS056 Myasthenic Syndrome, Congenital, 17 24
2001 c PRK052 Parkinson Disease 17 24
2002 c ART131 Arthrogryposis, Distal, Type 4 24
2003 c RTN067 Retinitis Pigmentosa 41 24
2004 c SPS198 Spastic Paraplegia 16, X-Linked 24
2005 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 24
2006 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24
2007 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 24
2008 c PRX062 Peroxisome Biogenesis Disorder 8b 24
2009 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 23
2010 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 23
2011 c HMC019 Hemochromatosis, Type 2b 23
2012 c BRC080 Brachydactyly, Type A1, B 23
2013 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
2014 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 23
2015 P ADP010 Adiponectin, Serum Level of, Quantitative Trait Locus 1 23
2016 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 23
2017 PRT101 Poretti-Boltshauser Syndrome 23
2018 MTR001 Mature Cataract 23
2019 c DMN024 Diamond-Blackfan Anemia 7 23
2020 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23
2021 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 23
2022 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
2023 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 23
2024 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
2025 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 23
2026 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 23
2027 c CLR094 Ciliary Dyskinesia, Primary, 28 23
2028 c TRC100 Trichothiodystrophy 3, Photosensitive 23
2029 c WLL038 Weill-Marchesani Syndrome 3 23
2030 c MYP119 Myopathy, Myofibrillar, 7 23
2031 c DMN018 Diamond-Blackfan Anemia 5 23
2032 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 23
2033 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 23
2034 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23
2035 c LSS009 Lissencephaly 3 23
2036 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
2037 c RTN085 Retinitis Pigmentosa 54 23
2038 c PRM089 Premature Ovarian Failure 3 23
2039 FCL047 Facial Clefting, Oblique, 1 23
2040 P DYS068 Dystonia 7, Torsion 23
2041 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 23
2042 CMP095 Complement Component 4a Deficiency 23
2043 c CTR180 Cataract 22, Multiple Types 23
2044 HYP481 Hyperbiliverdinemia 23
2045 c CRN135 Cornelia De Lange Syndrome 3 23
2046 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 23
2047 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
2048 c NML007 Nemaline Myopathy 6 23
2049 3MC004 3mc Syndrome 3 23
2050 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 23
2051 c MYP138 Myopia 3, Autosomal Dominant 23
2052 c LBR010 Leber Congenital Amaurosis 15 23
2053 c MCR109 Microphthalmia, Isolated 4 23
2054 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
2055 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 23
2056 c SCK037 Seckel Syndrome 9 23
2057 c NGH030 Night Blindness, Congenital Stationary, Type 1f 23
2058 c WRD022 Waardenburg Syndrome, Type 2d 23
2059 c AMY022 Amyotrophic Lateral Sclerosis Type 5 23
2060 c CFF011 Coffin-Siris Syndrome 6 23
2061 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 23
2062 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
2063 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 23
2064 P CRN214 Coronary Heart Disease 5 23
2065 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
2066 c ATS210 Autosomal Recessive Sideroblastic Anemia 23
2067 c RTN144 Retinitis Pigmentosa 61 23
2068 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
2069 c CTR131 Cataract 17, Multiple Types 23
2070 CMB045 Combined Oxidative Phosphorylation Deficiency 19 23
2071 c LDD008 Liddle Syndrome 2 23
2072 c CNG520 Congenital Heart Defects, Multiple Types, 6 23
2073 c DYS138 Dystonia 21 23
2074 c HYP578 Hypotrichosis 12 23
2075 c MCR114 Microphthalmia, Isolated 3 23
2076 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 23
2077 c CNG478 Congenital Diarrhea 23
2078 c INF090 Inflammatory Bowel Disease 7 23
2079 c SCK038 Seckel Syndrome 10 23
2080 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 23
2081 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
2082 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
2083 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
2084 c RTN213 Retinitis Pigmentosa 80 23
2085 c 46X030 46,xy Sex Reversal 9 23
2086 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 23
2087 c HYP576 Hypotrichosis 4 23
2088 c PRX047 Peroxisome Biogenesis Disorder 5b 23
2089 c RTN141 Retinitis Pigmentosa 39 23
2090 c ATR023 Atrial Septal Defect 5 23
2091 P OVR076 Ovarian Dysgenesis 2 23
2092 c JBR021 Joubert Syndrome 18 23
2093 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 23
2094 c HTR010 Heterotaxy, Visceral, 4, Autosomal 23
2095 DSN002 Desanto-Shinawi Syndrome 23
2096 c ENC061 Encephalopathy, Acute, Infection-Induced 2 23
2097 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
2098 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 23
2099 c MYP118 Myopathy, Myofibrillar, 8 23
2100 c PRK070 Parkinson Disease 21 23
2101 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 23
2102 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
2103 c LTH029 Lethal Congenital Contracture Syndrome 9 23
2104 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
2105 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
2106 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 23
2107 P TTR028 Tetraamelia Syndrome 1 23
2108 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 23
2109 CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 23
2110 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 23
2111 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
2112 MRF019 Marfan Lipodystrophy Syndrome 22
2113 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 22
2114 c LPR023 Leprosy 1 22
2115 c DYS172 Dystonia 27 22
2116 c JVN058 Juvenile-Onset Parkinson's Disease 22
2117 c TRC073 Treacher Collins Syndrome 2 22
2118 c EPS037 Episodic Ataxia, Type 4 22
2119 c SPN419 Spinocerebellar Ataxia 45 22
2120 c CFF006 Coffin-Siris Syndrome 5 22
2121 c CLR105 Ciliary Dyskinesia, Primary, 20 22
2122 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
2123 LPY002 Lipoyltransferase 1 Deficiency 22
2124 c PRM254 Premature Ovarian Failure 11 22
2125 c CHR565 Chromosomal Deletion Syndrome 22
2126 KRT074 Keratoendotheliitis Fugax Hereditaria 22
2127 c GLM025 Glioma Susceptibility 2 22
2128 P XLN065 X-Linked Infantile Nystagmus 22
2129 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
2130 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 22
2131 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 22
2132 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
2133 c NRC013 Narcolepsy 5 22
2134 MYP120 Myopathy, Distal, with Rimmed Vacuoles 22
2135 c CNR021 Cone-Rod Dystrophy 10 22
2136 c PNT042 Pontocerebellar Hypoplasia, Type 2f 22
2137 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
2138 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 22
2139 c 46X058 46,xy Sex Reversal 10 22
2140 c ATS371 Autism 6 22
2141 c NLX003 Neu-Laxova Syndrome 2 22
2142 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 22
2143 c CNR026 Cone-Rod Dystrophy 18 22
2144 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
2145 c INF072 Inflammatory Bowel Disease 11 22
2146 c VNT028 Ventricular Septal Defect 1 22
2147 c MYP098 Myopathy, Centronuclear, 4 22
2148 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 22
2149 c CLR125 Ciliary Dyskinesia, Primary, 33 22
2150 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22
2151 FCT032 Factor Xiii, a Subunit, Deficiency of 22
2152 c NML010 Nemaline Myopathy 7 22
2153 c DMN029 Diamond-Blackfan Anemia 11 22
2154 c JBR040 Joubert Syndrome 30 22
2155 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 22
2156 c RTN148 Retinitis Pigmentosa 63 22
2157 c EHL065 Ehlers-Danlos Syndrome, Type V 22
2158 c GLL041 Galloway-Mowat Syndrome 4 22
2159 c MCR217 Microphthalmia, Syndromic 11 22
2160 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 22
2161 c CLR095 Ciliary Dyskinesia, Primary, 19 22
2162 c HYP713 Hypermanganesemia with Dystonia 2 22
2163 c CTR165 Cataract 19, Multiple Types 22
2164 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 22
2165 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 22
2166 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
2167 c CLR126 Ciliary Dyskinesia, Primary, 35 22
2168 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
2169 c EPL093 Epilepsy, Idiopathic Generalized 7 22
2170 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 22
2171 c CTR184 Cataract 39, Multiple Types 22
2172 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
2173 c 46X017 46,xy Sex Reversal 6 22
2174 MYP149 Myopathy, Mitochondrial, and Ataxia 22
2175 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
2176 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
2177 CMB015 Combined Oxidative Phosphorylation Deficiency 4 22
2178 ATX023 Ataxia, Sensory, 1, Autosomal Dominant 22
2179 c JVN034 Juvenile Polyposis of Infancy 22
2180 c HTR018 Heterotaxy, Visceral, 7, Autosomal 22
2181 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 22
2182 c CNR027 Cone-Rod Dystrophy 17 22
2183 c RTN157 Retinitis Pigmentosa 37 22
2184 c TRC078 Trichohepatoenteric Syndrome 2 22
2185 c JBR022 Joubert Syndrome 20 22
2186 c PRX066 Peroxisome Biogenesis Disorder 3b 22
2187 c CLR104 Ciliary Dyskinesia, Primary, 15 22
2188 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
2189 c LBR029 Leber Congenital Amaurosis 17 22
2190 c CNR025 Cone-Rod Dystrophy 15 22
2191 c RTN117 Retinitis Pigmentosa 57 22
2192 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 22
2193 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
2194 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 22
2195 c CNR012 Cone-Rod Dystrophy 11 22
2196 CMB013 Combined Oxidative Phosphorylation Deficiency 2 22
2197 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 22
2198 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 22
2199 c CLR054 Ciliary Dyskinesia, Primary, 12 22
2200 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
2201 c LTH030 Lethal Congenital Contracture Syndrome 8 22
2202 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 22
2203 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
2204 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
2205 c GLL042 Galloway-Mowat Syndrome 5 22
2206 c CLR102 Ciliary Dyskinesia, Primary, 17 22
2207 c BRC075 Brachydactyly, Type A1, C 22
2208 CHR502 Chromosome 17q12 Duplication Syndrome 22
2209 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
2210 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 22
2211 c SHR116 Short-Rib Thoracic Dysplasia 20 with Polydactyly 22
2212 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 22
2213 c LTH032 Lethal Congenital Contracture Syndrome 7 22
2214 c JBR043 Joubert Syndrome 32 22
2215 c CNR024 Cone-Rod Dystrophy 13 22
2216 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
2217 c CLR042 Ciliary Dyskinesia, Primary, 6 22
2218 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 22
2219 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 22
2220 c MCL030 Macular Degeneration, Age-Related, 10 22
2221 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 22
2222 c PRM192 Premature Ovarian Failure 8 22
2223 c MCK036 Meckel Syndrome, Type 9 22
2224 c FNC061 Fanconi Anemia, Complementation Group W 22
2225 c ATR034 Atrial Septal Defect 6 22
2226 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 22
2227 c CTR116 Cataract 15, Multiple Types 22
2228 CMB049 Combined Oxidative Phosphorylation Deficiency 17 22
2229 c RTN195 Retinitis Pigmentosa 79 22
2230 c SCK033 Seckel Syndrome 8 22
2231 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
2232 CMB065 Combined Oxidative Phosphorylation Deficiency 26 22
2233 c CLC055 Cole-Carpenter Syndrome 2 22
2234 c MCR219 Microphthalmia, Isolated 8 22
2235 c HML035 Hemolytic Uremic Syndrome, Atypical 2 21
2236 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
2237 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21
2238 CRT069 Cortical Malformations, Occipital 21
2239 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 21
2240 c CLR106 Ciliary Dyskinesia, Primary, 26 21
2241 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
2242 RNL118 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 21
2243 HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 21
2244 c CTR182 Cataract 23, Multiple Types 21
2245 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
2246 CMP063 Complement Factor B Deficiency 21
2247 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 21
2248 c AML047 Amelogenesis Imperfecta, Type Ia 21
2249 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
2250 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
2251 c TYP039 Type 1 Diabetes Mellitus 17 21
2252 c DMN020 Diamond-Blackfan Anemia 8 21
2253 c MRG009 Meier-Gorlin Syndrome 2 21
2254 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
2255 DGT002 Digital Clubbing, Isolated Congenital 21
2256 c NML021 Nemaline Myopathy 9 21
2257 c RTN065 Retinitis Pigmentosa 36 21
2258 c ELL005 Elliptocytosis 2 21
2259 LTH011 Lethal Arthrogryposis with Anterior Horn Cell Disease 21
2260 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 21
2261 c GLM047 Glioma Susceptibility 3 21
2262 c PRR021 Perrault Syndrome 4 21
2263 c PRX089 Peroxisome Biogenesis Disorder 10b 21
2264 c LTH031 Lethal Congenital Contracture Syndrome 6 21
2265 CMB044 Combined Oxidative Phosphorylation Deficiency 14 21
2266 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
2267 c RTS002 Ritscher-Schinzel Syndrome 2 21
2268 c 46X056 46,xy Sex Reversal 5 21
2269 ACR096 Acromesomelic Dysplasia, Demirhan Type 21
2270 c EPL212 Epileptic Encephalopathy, Infantile or Early Childhood, 1 21
2271 c CLR117 Ciliary Dyskinesia, Primary, 32 21
2272 c MYP088 Myopathy, Tubular Aggregate, 2 21
2273 c BRC105 Brachydactyly, Type A1, D 21
2274 c INF162 Inflammatory Bowel Disease 25 21
2275 c MRG011 Meier-Gorlin Syndrome 4 21
2276 c CTR105 Cataract 12, Multiple Types 21
2277 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
2278 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 21
2279 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 21
2280 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 21
2281 CMB043 Combined Oxidative Phosphorylation Deficiency 9 21
2282 CMB016 Combined Oxidative Phosphorylation Deficiency 5 21
2283 c SPS062 Spastic Paraplegia 34, X-Linked 21
2284 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
2285 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
2286 c CLR101 Ciliary Dyskinesia, Primary, 25 21
2287 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
2288 c EXD010 Exudative Vitreoretinopathy 6 21
2289 c SCH064 Schizophrenia 10 21
2290 c STC012 Stickler Syndrome, Type Iv 21
2291 c MRG014 Meier-Gorlin Syndrome 6 21
2292 c CLR136 Ciliary Dyskinesia, Primary, 9 21
2293 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 21
2294 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21
2295 c PLM127 Pulmonary Hypertension, Primary, 3 21
2296 c 46X047 46,xy Sex Reversal 7 21
2297 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 21
2298 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
2299 c EPS033 Episodic Ataxia, Type 8 21
2300 c CLR092 Ciliary Dyskinesia, Primary, 18 21
2301 RBN013 Robinow-Sorauf Syndrome 21
2302 c MYP140 Myopia 17, Autosomal Dominant 21
2303 c CNG404 Congenital Heart Defects, Multiple Types, 4 21
2304 ACT240 Actn3 Deficiency 21
2305 c SYN088 Synpolydactyly 2 21
2306 CRN200 Craniosynostosis and Dental Anomalies 21
2307 c CLR116 Ciliary Dyskinesia, Primary, 29 21
2308 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21
2309 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 21
2310 c VNT024 Ventricular Septal Defect 3 21
2311 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 21
2312 c CLR098 Ciliary Dyskinesia, Primary, 27 21
2313 c PRM207 Premature Ovarian Failure 10 21
2314 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 21
2315 c MCL051 Macular Degeneration, Age-Related, 12 21
2316 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 21
2317 SWN003 Sweeney-Cox Syndrome 21
2318 c MCL071 Macular Dystrophy, Patterned, 2 21
2319 HRS016 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 21
2320 BRC106 Brachycephaly, Trichomegaly, and Developmental Delay 21
2321 c JBR039 Joubert Syndrome 28 21
2322 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
2323 P PTT054 Patterned Macular Dystrophy 21
2324 c CTR163 Cataract 46, Juvenile-Onset 21
2325 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 21
2326 c JBR045 Joubert Syndrome 33 21
2327 c JBR028 Joubert Syndrome 13 21
2328 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 21
2329 P NNP011 Nanophthalmos 2 21
2330 c ATS369 Autism 8 21
2331 c CTR159 Cataract 35 21
2332 c SNR011 Senior-Loken Syndrome 3 21
2333 c CWD009 Cowden Syndrome 7 21
2334 c EPL200 Epilepsy, Childhood Absence 1 21
2335 c JBR044 Joubert Syndrome 31 21
2336 c SNR015 Senior-Loken Syndrome 8 21
2337 c HYD040 Hydrolethalus Syndrome 2 21
2338 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 21
2339 c PLM121 Pulmonary Hypertension, Primary, 4 21
2340 c THR096 Three M Syndrome 3 21
2341 MYS016 Myosclerosis, Autosomal Recessive 21
2342 GRW027 Growth Restriction, Severe, with Distinctive Facies 21
2343 c RTN192 Retinitis Pigmentosa 77 21
2344 c CLR099 Ciliary Dyskinesia, Primary, 16 21
2345 P PRX064 Peroxisome Biogenesis Disorder 2b 21
2346 c BRC053 Brachyolmia Type 2 21
2347 c ANR046 Aniridia 3 21
2348 c CRD163 Cardiofaciocutaneous Syndrome 2 21
2349 c MCK020 Meckel Syndrome, Type 11 21
2350 c EPL084 Epilepsy, Idiopathic Generalized 11 21
2351 c BLP049 Blepharocheilodontic Syndrome 2 20
2352 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 20
2353 MYP038 Myopathy, Congenital, Compton-North 20
2354 c ATS367 Autism X-Linked 3 20
2355 TNR001 Tenorio Syndrome 20
2356 c ANM034 Anemia, Sideroblastic, 4 20
2357 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 20
2358 c PLM128 Pulmonary Hypertension, Primary, 2 20
2359 c MRG012 Meier-Gorlin Syndrome 5 20
2360 c STC011 Stickler Syndrome, Type V 20
2361 MCR353 Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome 20
2362 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 20
2363 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 20
2364 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 20
2365 MTH040 Methylmalonyl-Coa Epimerase Deficiency 20
2366 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 20
2367 c DYS121 Dyslexia 1 20
2368 c MYP146 Myopia 15, Autosomal Dominant 20
2369 c LPR007 Leopard Syndrome 3 20
2370 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 20
2371 c EPS034 Episodic Ataxia, Type 5 20
2372 c JBR038 Joubert Syndrome 27 20
2373 c EXD007 Exudative Vitreoretinopathy 3 20
2374 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 20
2375 c CLR088 Ciliary Dyskinesia, Primary, 21 20
2376 c AML048 Amelogenesis Imperfecta, Type Ih 20
2377 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 20
2378 c DMN028 Diamond-Blackfan Anemia 12 20
2379 AML014 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 20
2380 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
2381 c CLR059 Ciliary Dyskinesia, Primary, 13 20
2382 RHN013 Rh-Null, Regulator Type 20
2383 FCT033 Factor Xiii, B Subunit, Deficiency of 20
2384 SHR065 Short Stature with Microcephaly and Distinctive Facies 20
2385 c CTR183 Cataract 38 20
2386 c ARC011 Auriculocondylar Syndrome 2 20
2387 SDD009 Sudden Cardiac Failure, Infantile 20
2388 c BRN075 Bronchiectasis with or Without Elevated Sweat Chloride 2 20
2389 c ART102 Arterial Calcification, Generalized, of Infancy, 2 20
2390 c SNR004 Senior-Loken Syndrome 4 20
2391 c NGH022 Night Blindness, Congenital Stationary, Type 1g 20
2392 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
2393 c ART060 Arthrogryposis, Distal, Type 1b 20
2394 c CNR030 Cone-Rod Dystrophy 20 20
2395 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 20
2396 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 20
2397 CMP091 Complement Component C1s Deficiency 20
2398 c CTR097 Cataract 34, Multiple Types 20
2399 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 20
2400 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 20
2401 ALP088 Alpha-Fetoprotein, Hereditary Persistence of 20
2402 c SCH045 Schizophrenia 12 20
2403 CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 20
2404 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 20
2405 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
2406 c ATS365 Autism X-Linked 1 20
2407 c EPL086 Epilepsy, Idiopathic Generalized 9 20
2408 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
2409 c ALT007 Alternating Hemiplegia of Childhood