Genetic Diseases Category (8749 diseases)


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

# Family MCID Name MIFTS
1 c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 46
2 c ABC009 Abcb11-Related Intrahepatic Cholestasis 12
3 c ATP006 Atp8b1-Related Intrahepatic Cholestasis 10
4 FML026 Familial Lipoprotein Lipase Deficiency 48
5 P AMY082 Amyloidosis, Familial Visceral 46
6 FML089 Familial Thoracic Aortic Aneurysm and Dissection 50
7 P FML011 Familial Adenomatous Polyposis 69
8 P MLT048 Multiple Familial Trichoepithelioma 28
9 c PRG126 Progressive Familial Heart Block 43
10 P HRT035 Heart Block, Congenital 35
11 P FML161 Familial Mediterranean Fever, Ar 61
12 P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 48
13 P PRM175 Primary Familial Brain Calcification 44
14 c HYP725 Hypocalciuric Hypercalcemia, Type Iii 38
15 P HYP607 Hypercholesterolemia, Familial 75
16 P CND004 Candidiasis 56
17 c DYS166 Dysautonomia, Familial 49
18 P DYS021 Dysautonomia 45
19 c DYS033 Dysautonomia Like Disorder 22
20 c CND024 Candidiasis, Familial, 6, Autosomal Dominant 19
21 P PLY018 Polycythemia 56
22 c PRM012 Primary Polycythemia 53
23 c HYP314 Hypocalciuric Hypercalcemia, Type I 39
24 c ACQ010 Acquired Polycythemia 30
25 c ATS209 Autosomal Dominant Secondary Polycythemia 15
26 c PLY005 Polycythemia Due to Hypoxia 5
27 HYP121 Hypoalphalipoproteinemia 61
28 P SZR006 Seizure Disorder 54
29 c SZR014 Seizures, Benign Familial Infantile, 1 23
30 c SCN009 Scn1a-Related Seizure Disorders 9
31 HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 24
32 P AMY004 Amyloidosis 64
33 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 47
34 c AMY009 Amyloidosis Aa 45
35 c HYP317 Hypocalciuric Hypercalcemia, Type Ii 39
36 c PRM150 Primary Localized Amyloidosis 22
37 c AHM002 Ah Amyloidosis 16
38 P FML052 Familial Cold Autoinflammatory Syndrome 50
39 ERY045 Erythrocytosis, Somatic 47
40 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 23
41 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 13
42 c HRT021 Heart Block, Progressive, Type Ia 39
43 c CND026 Candidiasis, Familial, 2, Autosomal Recessive 33
44 CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 34
45 MTR030 Mitral Valve Prolapse, Familial, X-Linked 12
46 c CHL082 Cholestasis, Progressive Familial Intrahepatic 3 44
47 P BNG026 Benign Neonatal Seizures 38
48 P ATT003 Attenuated Familial Adenomatous Polyposis 45
49 INS025 Insomnia, Fatal Familial 35
50 FML157 Familial Male-Limited Precocious Puberty 25
51 FML185 Familial Paroxysmal Kinesigenic Dyskinesia 20
52 P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33
53 c PRG043 Progressive Familial Heart Block, Type Ib 32
54 c PRG101 Progressive Familial Heart Block, Type Ii 24
55 P HYP065 Hyperaldosteronism 50
56 c CHL081 Cholestasis, Progressive Familial Intrahepatic 2 45
57 c FML156 Familial Hyperaldosteronism 36
58 P HYP614 Hyperlipidemia, Familial Combined 50
59 P BNG006 Benign Familial Neonatal Epilepsy 33
60 CYL004 Cylindromatosis, Familial 29
61 c CHL083 Cholestasis, Progressive Familial Intrahepatic 4 27
62 c HYP333 Hyperlipidemia, Combined, 2 17
63 P FML012 Familial Partial Lipodystrophy 51
64 c FML023 Familial Hemiplegic Migraine 50
65 EWN002 Ewing's Family of Tumors 45
66 P HMP006 Hemiplegic Migraine 44
67 c LPD019 Lipodystrophy, Partial, Acquired 35
68 LRY047 Laryngeal Abductor Paralysis 23
69 ANM006 Anomalous Origin of Right Pulmonary Artery Familial 10
70 P HYP069 Hyperparathyroidism 56
71 c HYP311 Hyperparathyroidism 3 36
72 FML063 Familial Glucocorticoid Deficiency 36
73 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
74 c MGR032 Migraine, Familial Hemiplegic, 1 35
75 c HYP720 Hyperparathyroidism 4 23
76 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 12
77 P HYP724 Hyperlipoproteinemia, Type Iii 56
78 c HYP592 Hyperlipoproteinemia, Type 1d 23
79 TMP005 Temporal Epilepsy, Familial 11
80 MCR031 Macrocephaly, Benign Familial 10
81 CNV009 Convulsions Benign Familial Neonatal Dominant Form 10
82 GNV001 Genu Valgum, St Helena Familial 4
83 c EPL070 Epilepsy, Progressive Myoclonic 2b 48
84 ALD010 Aldosteronism, Glucocorticoid-Remediable 48
85 P MYC068 Myoclonic Epilepsy of Infancy 38
86 c EPL121 Epilepsy, Progressive Myoclonic 1a 34
87 TMR012 Tumoral Calcinosis, Familial, Normophosphatemic 29
88 c EPL145 Epilepsy, Progressive Myoclonic 6 28
89 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
90 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
91 c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 26
92 c MYC070 Myoclonic Epilepsy, Juvenile 1 25
93 c EPL134 Epilepsy, Progressive Myoclonic 7 24
94 HPD003 Hip Dysplasia, Beukes Type 24
95 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
96 c EPL155 Epilepsy, Progressive Myoclonic, 8 23
97 c EPL094 Epilepsy, Juvenile Myoclonic 5 21
98 c EPL144 Epilepsy, Progressive Myoclonic 1b 21
99 c EPL154 Epilepsy, Progressive Myoclonic, 9 21
100 c PRG073 Progressive Myoclonic Epilepsy 5 14
101 c EPL186 Epilepsy, Juvenile Myoclonic 9 14
102 c SCN015 Scn1a-Related Severe Myoclonic Epilepsy in Infancy 13
103 c EPL009 Epilepsy Progressive Myoclonic Type 3 11
104 c CCN006 Cacnb4-Related Juvenile Myoclonic Epilepsy 7
105 c CLC014 Clcn2-Related Juvenile Myoclonic Epilepsy 7
106 c EFH001 Efhc1-Related Juvenile Myoclonic Epilepsy 7
107 c GBR001 Gabra1-Related Juvenile Myoclonic Epilepsy 7
108 c GBR003 Gabrd-Related Juvenile Myoclonic Epilepsy 7
109 c EJM001 Ejm2-Related Juvenile Myoclonic Epilepsy 6
110 c EJM002 Ejm3-Related Juvenile Myoclonic Epilepsy 6
111 c EJM003 Ejm4-Related Juvenile Myoclonic Epilepsy 6
112 c HYP615 Hyperparathyroidism, Familial Primary 53
113 c ALZ036 Alzheimer Disease, Type 3 51
114 P PRN026 Porencephaly 48
115 c FML084 Familial Porencephaly 37
116 c ALZ032 Alzheimer Disease 18 33
117 P ART028 Aortic Aneurysm, Familial Thoracic 4 29
118 c ALZ015 Alzheimer Disease 6 28
119 c ALZ045 Alzheimer Disease 9 26
120 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
121 c ALZ048 Alzheimer's Disease 19 24
122 c ALZ014 Alzheimer Disease 16 23
123 c ALZ031 Alzheimer Disease 17 22
124 c CND028 Candidiasis, Familial, 4, Autosomal Recessive 22
125 c PRN047 Porencephaly 2 21
126 c ALZ043 Alzheimer's Disease 15 20
127 c ALZ041 Alzheimer's Disease 13 20
128 DYS182 Dysphasia, Familial Developmental 20
129 c ALZ042 Alzheimer's Disease 14 20
130 c ALZ040 Alzheimer's Disease 11 19
131 c ALZ008 Alzheimer Disease Risk Factor 19
132 c ACQ029 Acquired Porencephaly 11
133 ADN021 Adenomatous Polyposis Coli 71
134 P NTR004 Neutropenia 58
135 c SVR003 Severe Congenital Neutropenia 56
136 PTY003 Pityriasis Rubra Pilaris 46
137 FML271 Familial Cold-Induced Inflammatory Syndrome 1 46
138 c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 42
139 P CHR562 Chronic Myelocytic Leukemia 38
140 P ADV001 Advanced Sleep Phase Syndrome 32
141 c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 32
142 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
143 CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 30
144 c NTR033 Neutropenia, Severe Congenital 1, Autosomal Dominant 26
145 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 23
146 c NTR037 Neutropenia, Severe Congenital 2, Autosomal Dominant 22
147 c CNG129 Congenital Torticollis 20
148 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 19
149 FML125 Familial Hodgkin Disease 19
150 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 19
151 CPP001 Copper Deficiency, Familial Benign 16
152 c NTR008 Neutropenia Chronic Familial 16
153 CRN069 Corneal Hypesthesia, Familial 14
154 c FML328 Familial Chronic Myelocytic Leukemia-Like Syndrome 9
155 c ELN001 Elane-Related Neutropenia 9
156 FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 8
157 OSS006 Ossicular Malformations, Familial 6
158 c GT1005 Gata1-Related Neutropenia 6
159 P TRT007 Torticollis, Familial 6
160 P HYP027 Hypobetalipoproteinemia 54
161 P HYP599 Hypoparathyroidism, Familial Isolated 36
162 c MGR030 Migraine, Familial Hemiplegic, 2 33
163 c HYP290 Hypobetalipoproteinemia, Familial, 2 23
164 HYP618 Hyperbilirubinemia, Familial Transient Neonatal 22
165 c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 21
166 P EPL164 Epilepsy 65
167 P HRD004 Hereditary Breast Ovarian Cancer 56
168 P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 42
169 c BNG023 Benign Familial Infantile Epilepsy 40
170 c HYP438 Hyperaldosteronism, Familial, Type Iii 28
171 c BRS088 Breast-Ovarian Cancer, Familial 3 21
172 c BRS098 Breast-Ovarian Cancer, Familial 4 20
173 ACN018 Acne Inversa, Familial, 1 20
174 c SDH002 Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 8
175 c DPD002 Depdc5-Related Epilepsy 5
176 c MXR002 Max-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 5
177 P PLM036 Pulmonary Fibrosis 68
178 P ATR011 Atrial Fibrillation 65
179 c FML001 Familial Atrial Fibrillation 54
180 P EXD001 Exudative Vitreoretinopathy 47
181 c EXD004 Exudative Vitreoretinopathy 4 26
182 c PLM044 Pulmonary Fibrosis, Familial 23
183 c EXD006 Exudative Vitreoretinopathy 5 22
184 c EXD010 Exudative Vitreoretinopathy 6 20
185 THM023 Thiemann Disease 17
186 c EXD007 Exudative Vitreoretinopathy 3 16
187 c EXD012 Exudative Vitreoretinopathy 7 11
188 c LCL003 Localized Pulmonary Fibrosis 11
189 c KCN018 Kcne5-Related Atrial Fibrillation 7
190 c SZR008 Seizures, Benign Neonatal, 1 34
191 c CND025 Candidiasis, Familial, 8 26
192 P PLR004 Pleuropulmonary Blastoma 58
193 c ALZ037 Alzheimer Disease-2 52
194 P FBR031 Febrile Seizures 49
195 c MYC048 Myoclonic Epilepsy, Infantile, Familial 27
196 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 27
197 ARR038 Arrhythmogenic Right Ventricular Dysplasia 11 26
198 P GLM015 Glomerulopathy with Fibronectin Deposits 2 26
199 P FML168 Familial Isolated Pituitary Adenoma 25
200 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
201 c FBR069 Febrile Seizures, Familial, 4 22
202 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 18
203 c GLM014 Glomerulopathy with Fibronectin Deposits 1 16
204 c FML334 Familial Candidiasis 16
205 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 15
206 c PLR018 Pleuropulmonary Blastoma Type 1 15
207 c PLR019 Pleuropulmonary Blastoma Type 2 11
208 c PLR020 Pleuropulmonary Blastoma Type 3 11
209 P CSH001 Cushing's Syndrome 65
210 P SCK002 Sick Sinus Syndrome 50
211 P PLM025 Pulmonary Venoocclusive Disease 44
212 P AMY084 Amyloidosis, Finnish Type 37
213 c PLM130 Pulmonary Venoocclusive Disease 1 33
214 c PLM132 Pulmonary Venoocclusive Disease 2 30
215 c BNG079 Benign Adult Familial Myoclonic Epilepsy 28
216 IMM153 Immunodeficiency 51 26
217 EPL128 Epilepsy, Familial Temporal Lobe, 3 25
218 c SCK017 Sick Sinus Syndrome 1 25
219 MYX012 Myxoma, Intracardiac 25
220 FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24
221 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 22
222 c SCK022 Sick Sinus Syndrome 3 21
223 FML307 Familial Calcium Pyrophosphate Deposition 20
224 P HYD015 Hydroa Vacciniforme 20
225 c CRB051 Cerebral Cavernous Malformation, Familial 16
226 P ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 14
227 c SCK013 Sick Sinus Syndrome 2, Autosomal Dominant 12
228 c FML309 Familial Infantile Bilateral Striatal Necrosis 12
229 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 11
230 c SCK012 Sick Sinus Syndrome 1, Autosomal Recessive 10
231 c CSH002 Cushing Syndrome, Familial 9
232 OST150 Osteodysplasia, Familial, Anderson Type 9
233 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 8
234 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 8
235 OPT030 Optic Nerve Hypoplasia, Familial Bilateral 4
236 c HYD016 Hydroa Vacciniforme, Familial 4
237 DWR005 Dwarfism Familial with Muscle Spasms 4
238 c HMR010 Hemeralopia, Congenital Essential 4
239 P HMR011 Hemeralopia, Familial 3
240 c MNN043 Meningioma, Familial 56
241 c EPL100 Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 47
242 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 40
243 PRC030 Precocious Puberty, Male 39
244 c EPL120 Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 35
245 c SZR013 Seizures, Benign Neonatal, Type 2 32
246 P BNG002 Benign Meningioma 31
247 CHR423 Chorea, Hereditary Benign 29
248 HYP649 Hyperpigmentation with or Without Hypopigmentation 26
249 c FBR082 Febrile Seizures, Familial, 3b 26
250 c EPL041 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 25
251 c FBR072 Febrile Seizures, Familial, 11 24
252 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 24
253 c SZR016 Seizures, Benign Familial Infantile, 2 22
254 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 21
255 c EPS039 Episodic Pain Syndrome, Familial, 1 21
256 ACN016 Acne Inversa, Familial, 3 20
257 c TRC095 Trichoepithelioma, Multiple Familial, 1 19
258 c EPS028 Episodic Pain Syndrome, Familial, 3 19
259 ACN017 Acne Inversa, Familial, 2 18
260 c SCN026 Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus 9
261 c GBR002 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus 7
262 c GBR005 Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus 7
263 c SCN018 Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus 7
264 c STX002 Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus 7
265 LPP001 Lipoprotein Lipase Deficiency 59
266 P CLR108 Colorectal Adenoma 59
267 P HYP040 Hypospadias 58
268 P HYP050 Hyperinsulinemic Hypoglycemia 55
269 P AVS004 Avascular Necrosis of the Femoral Head 54
270 ARR026 Arrhythmogenic Right Ventricular Dysplasia 1 41
271 VNT011 Ventricular Fibrillation, Familial, 1 37
272 c BRS071 Breast-Ovarian Cancer, Familial, 1 34
273 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 32
274 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 28
275 c ADN040 Adenomas, Multiple Colorectal 27
276 c CRD176 Cardiomyopathy, Familial Restrictive, 1 27
277 EPL115 Epilepsy, Familial Temporal Lobe, 2 26
278 CHR525 Chromosome Xq26.3 Duplication Syndrome 26
279 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 19
280 c FML048 Familial Avascular Necrosis of the Femoral Head 19
281 c ADV002 Advanced Sleep-Phase Syndrome, Familial, 2 17
282 c BRS072 Breast-Ovarian Cancer, Familial, 2 17
283 c PST093 Posterior Hypospadias 17
284 DCR009 Dicer1-Related Disorders 14
285 c TRC094 Trichoepithelioma, Multiple Familial, 2 12
286 c HYP545 Hypospadias 3, Autosomal 9
287 MLT051 Multiple Fibrofolliculoma Familial 6
288 P THR015 Thrombophilia 58
289 c THR082 Thrombophilia Due to Activated Protein C Resistance 51
290 c THR092 Thrombophilia Due to Thrombin Defect 50
291 PRM237 Primary Hypomagnesemia 43
292 c HYP032 Hyperlipoproteinemia Type Iv 33
293 HYP268 Hypercalciuria, Absorptive 32
294 FML143 Familial Papillary Thyroid Carcinoma 27
295 P INT260 Intracranial Berry Aneurysm 26
296 c SCK014 Sick Sinus Syndrome 2 23
297 c PRP091 Porphyria Cutanea Tarda, Type I 23
298 c FML324 Familial Porphyria Cutanea Tarda 23
299 c THR023 Thrombophilia Due to Thrombomodulin Defect 18
300 FML206 Familial Cerebral Saccular Aneurysm 17
301 c THR060 Thrombophilia, Familial, Due to Decreased Release of Plat 15
302 LNT008 Lentiginosis, Inherited Patterned 13
303 c ANR027 Aneurysm, Intracranial Berry, 1 13
304 c ANR011 Aneurysm, Intracranial Berry, 2 12
305 c FCL065 Facial Palsy, Familial Recurrent Peripheral 11
306 c PRT045 Prothrombin-Related Thrombophilia 11
307 c ANR022 Aneurysm, Intracranial Berry, 4 10
308 P RCR003 Recurrent Peripheral Facial Palsy 8
309 c ANR028 Aneurysm, Intracranial Berry, 3 7
310 c ANR024 Aneurysm, Intracranial Berry, 9 7
311 c ANR039 Aneurysm, Intracranial Berry, 11 7
312 c ANR025 Aneurysm, Intracranial Berry, 10 7
313 c ANR029 Aneurysm, Intracranial Berry, 6 7
314 c ANR023 Aneurysm, Intracranial Berry, 7 7
315 c ANR030 Aneurysm, Intracranial Berry, 8 7
316 c ANR026 Aneurysm, Intracranial Berry, 5 7
317 FML045 Familial Mosaic Monosomy 7 Syndrome 6
318 c KCN012 Kcnq2-Related Benign Familial Neonatal Epilepsy 6
319 THR043 Thrombomodulin Anomalies, Familial 6
320 FML088 Familial Streblodactyly 4
321 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 4
322 FLT005 Flat Umbilicus Familial 3
323 P HYP117 Hypertriglyceridemia 61
324 c LPM012 Lipomatosis, Multiple 50
325 P LPM005 Lipomatosis 48
326 P ERY048 Erythrocytosis, Familial, 2 44
327 DSM003 Desmoid Disease, Hereditary 42
328 c HYP367 Hypercholesterolemia, Familial, Autosomal Recessive 35
329 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 35
330 c HYP555 Hypertriglyceridemia, Transient Infantile 30
331 c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 30
332 c FML117 Familial Cold Autoinflammatory Syndrome 2 29
333 c FML299 Familial Adenomatous Polyposis 3 26
334 c DGT005 Digital Arthropathy-Brachydactyly, Familial 26
335 P EXD009 Exudative Vitreoretinopathy 2, X-Linked 25
336 DYS140 Dyskinesia, Familial, with Facial Myokymia 23
337 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
338 MYC066 Myoclonus, Familial Cortical 21
339 c EPS027 Episodic Pain Syndrome, Familial, 2 19
340 EPL150 Epilepsy, Familial Temporal Lobe, 7 18
341 c SZR020 Seizures, Benign Familial Infantile, 5 17
342 c EPL187 Epilepsy, Familial Focal, with Variable Foci 2 17
343 c ERY032 Erythrocytosis, Familial, 4 16
344 STT041 Stuttering 49
345 ARR025 Arrhythmogenic Right Ventricular Dysplasia 5 46
346 ARR030 Arrhythmogenic Right Ventricular Dysplasia 2 42
347 FML036 Familial Periodic Paralysis 41
348 ARR035 Arrhythmogenic Right Ventricular Dysplasia 9 40
349 EPL114 Epilepsy, Familial Temporal Lobe, 1 39
350 c HYP272 Hypercholesterolemia, Familial, 3 38
351 ARR029 Arrhythmogenic Right Ventricular Dysplasia 8 38
352 P CRY007 Cryoglobulinemia, Familial Mixed 37
353 INT304 Interstitial Pneumonitis, Desquamative, Familial 34
354 c DYS165 Dysfibrinogenemia, Congenital 34
355 c TYP024 Type Ii Mixed Cryoglobulinemia 33
356 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 30
357 c FML305 Familial Abdominal Aortic Aneurysm 29
358 CD8002 Cd8 Deficiency, Familial 29
359 ARR040 Arrhythmogenic Right Ventricular Dysplasia 10 28
360 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 28
361 P PRD017 Periodic Paralyses 27
362 ARR037 Arrhythmogenic Right Ventricular Dysplasia 12 27
363 P HYP279 Hypercholanemia, Familial 26
364 P HYP078 Hypertrophy of Breast 25
365 HYP344 Hyperthyroidism, Familial Gestational 23
366 c ART071 Aortic Aneurysm, Familial Thoracic 6 23
367 P BSL035 Basal Ganglia Calcification, Idiopathic, 5 23
368 c FML162 Familial Mediterranean Fever, Ad 22
369 c ART105 Aortic Aneurysm, Familial Thoracic 7 21
370 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
371 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 20
372 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
373 ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 20
374 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 19
375 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
376 EPL081 Epilepsy, Familial Temporal Lobe, 5 17
377 ESN023 Eosinophilia, Familial 17
378 c ERY031 Erythrocytosis, Familial, 3 17
379 CLL041 Collagenoma, Familial Cutaneous 16
380 c ART133 Aortic Aneurysm, Familial Thoracic 11 16
381 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 15
382 c CRD098 Cardiomyopathy, Familial Restrictive, 3 15
383 c HYP678 Hypertrophy of the Breast, Juvenile 14
384 P XNC003 X-Inactivation, Familial Skewed 14
385 c FML159 Familial Periodic Paralyses 14
386 EPL152 Epilepsy, Familial Temporal Lobe, 8 13
387 c MXD037 Mixed Cryoglobulinemia Type Iii 11
388 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 11
389 FML160 Familial Spastic Paralysis 10
390 c SYS001 Systemic Lupus Erythematosus 86
391 P KDN017 Kidney Cancer 65
392 P LPS004 Lupus Erythematosus 63
393 c MLT024 Multiple Endocrine Neoplasia Iia 62
394 HYP020 Hyperprolactinemia 59
395 P HMN010 Hemangioma 59
396 P HYP192 Hypocalcemia, Autosomal Dominant 58
397 c MLT025 Multiple Endocrine Neoplasia Iib 57
398 P MLT074 Multiple Endocrine Neoplasia 54
399 P OVR049 Ovarian Disease 54
400 c AFB002 Afibrinogenemia, Congenital 52
401 P VSC005 Vesicoureteral Reflux 52
402 c ART067 Aortic Aneurysm, Familial Thoracic 1 51
403 c MLT086 Multiple Endocrine Neoplasia, Type Iv 50
404 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
405 P FML035 Familial Hyperlipidemia 47
406 P AFB001 Afibrinogenemia 46
407 ATX003 Ataxia with Isolated Vitamin E Deficiency 46
408 c MYS051 Myasthenic Syndrome, Congenital, 5 45
409 c MYS052 Myasthenic Syndrome, Congenital, 10 42
410 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
411 c ERL006 Early-Onset Familial Alzheimer Disease 39
412 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
413 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
414 c SYS061 Systemic Lupus Erythematosus 16 38
415 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
416 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
417 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
418 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 37
419 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
420 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36
421 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
422 c MYS064 Myasthenic Syndrome, Congenital, 16 36
423 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
424 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
425 c KDN016 Kidney Benign Neoplasm 36
426 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 35
427 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
428 P OTS001 Otosclerosis 35
429 P MYG005 Myoglobinuria 34
430 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
431 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
432 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
433 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
434 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
435 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
436 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
437 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 33
438 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
439 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
440 FML304 Familial Isolated Dilated Cardiomyopathy 33
441 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
442 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
443 c SYS043 Systemic Lupus Erythematosus 1 32
444 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
445 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
446 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
447 c ALZ046 Alzheimer's Disease 5 31
448 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
449 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
450 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
451 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
452 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
453 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
454 c CRN236 Corneal Dystrophy, Lattice Type I 29
455 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
456 P SPS012 Spastic Paraplegia 3a 29
457 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
458 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
459 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 28
460 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
461 c FML284 Familial Vesicoureteral Reflux 28
462 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
463 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 28
464 c SPS031 Spastic Paraplegia 23 27
465 HYP249 Hyperthyroidism, Nonautoimmune 27
466 EDC001 Edict Syndrome 27
467 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
468 c SYS038 Systemic Lupus Erythematosus 2 27
469 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
470 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
471 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
472 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
473 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 26
474 c FML272 Familial Sick Sinus Syndrome 26
475 c SPS036 Spastic Paraplegia 3 26
476 c HYP564 Hypocalcemia, Autosomal Dominant 2 25
477 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
478 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
479 c SPS013 Spastic Paraplegia 8 25
480 ASP026 Asplenia, Isolated Congenital 25
481 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
482 P PRS124 Presynaptic Congenital Myasthenic Syndromes 25
483 c SPS021 Spastic Paraplegia 10 25
484 c SPS092 Spastic Paraplegia 11 25
485 FML211 Familial Papillary or Follicular Thyroid Carcinoma 25
486 c MYG003 Myoglobinuria Recurrent 25
487 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
488 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
489 HYP321 Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency 24
490 c MYS056 Myasthenic Syndrome, Congenital, 17 24
491 c SPS200 Spastic Paraplegia 62 24
492 c HYP289 Hyperlipoproteinemia, Type Ib 24
493 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
494 c HRD186 Hereditary Spastic Paraplegia 51 24
495 FLR007 Failure of Tooth Eruption, Primary 24
496 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
497 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
498 c SPS025 Spastic Paraplegia 15 24
499 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
500 c SPS135 Spastic Paraplegia 63 24
501 c SYS046 Systemic Lupus Erythematosus 3 24
502 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23
503 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23
504 c SPS020 Spastic Paraplegia 1 23
505 c SYS041 Systemic Lupus Erythematosus 9 23
506 c CRD219 Cardiomyopathy, Infantile Hypertrophic 23
507 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
508 c MTR077 Mitral Valve Prolapse 2 23
509 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
510 c SYS053 Systemic Lupus Erythematosus 5 23
511 c VSC025 Vesicoureteral Reflux 3 23
512 c LTT008 Lattice Corneal Dystrophy Type Ii 22
513 c MYS065 Myasthenic Syndrome, Congenital, 18 22
514 c SPS039 Spastic Paraplegia 5a 22
515 c MYS070 Myasthenic Syndrome, Congenital, 19 22
516 c CRN160 Corneal Dystrophy, Lattice Type Iiia 22
517 c SYS051 Systemic Lupus Erythematosus 4 22
518 c SYS040 Systemic Lupus Erythematosus 10 22
519 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
520 c SYS055 Systemic Lupus Erythematosus 12 22
521 c SPS027 Spastic Paraplegia 17 22
522 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
523 c VSC020 Vesicoureteral Reflux 2 22
524 c VSC046 Vesicoureteral Reflux 8 21
525 P DYS070 Dysalbuminemic Hyperthyroxinemia 21
526 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
527 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
528 c SPS028 Spastic Paraplegia 18 20
529 c OTS005 Otosclerosis 1 20
530 c SPS034 Spastic Paraplegia 26 20
531 c SPS042 Spastic Paraplegia 9 20
532 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 20
533 c SYS067 Systemic Lupus Erythematosus 15 20
534 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 20
535 c VSC019 Vesicoureteral Reflux 1 20
536 c SPS023 Spastic Paraplegia 13 19
537 c SPS054 Spastic Paraplegia 35 19
538 c SPS022 Spastic Paraplegia 12 19
539 c SYS048 Systemic Lupus Erythematosus 8 19
540 c MLG144 Malignant Hemangioma 18
541 FML293 Familial Isolated Restrictive Cardiomyopathy 18
542 c SYS045 Systemic Lupus Erythematosus 14 18
543 c SPS033 Spastic Paraplegia 25 18
544 c SYS065 Systemic Lupus Erythematosus 11 18
545 ARR034 Arrhythmogenic Right Ventricular Dysplasia 6 18
546 c MYS067 Myasthenic Syndrome, Congenital, 22 18
547 c SYS047 Systemic Lupus Erythematosus 7 17
548 EPL113 Epilepsy, Familial Temporal Lobe, 4 17
549 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
550 P FML340 Familial Episodic Pain Syndrome 17
551 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
552 c SPS037 Spastic Paraplegia 31 16
553 c SPS175 Spastic Paraplegia 49 16
554 c SYS052 Systemic Lupus Erythematosus 13 16
555 c OTS007 Otosclerosis 3 16
556 c SPS064 Spastic Paraplegia 45 16
557 c HYP677 Hyperthyroxinemia, Familial Dysalbuminemic 16
558 c SPS024 Spastic Paraplegia 14 16
559 c SPS038 Spastic Paraplegia 39 16
560 P FML257 Familial Pseudohyperkalemia 16
561 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 16
562 FML325 Familial Cervical Artery Dissection 15
563 c SPS173 Spastic Paraplegia 43 15
564 c SPS035 Spastic Paraplegia 29 15
565 c SPS080 Spastic Paraplegia 51 15
566 c PRM177 Primary Familial Brain Calcification 1 15
567 c FML177 Familial Candidiasis 5 15
568 c RNL033 Renal Carcinoma, Familial 15
569 c SPS174 Spastic Paraplegia 46 15
570 c KDN012 Kidney Carcinoma in Situ 15
571 IMM016 Immune Deficiency, Familial Variable 14
572 ARR036 Arrhythmogenic Right Ventricular Dysplasia 3 14
573 c XLN033 X-Linked Familial Exudative Vitreoretinopathy 14
574 c SPS026 Spastic Paraplegia 16 14
575 c SPS161 Spastic Paraplegia 32 14
576 c ACQ004 Acquired Hemangioma 14
577 c SPS052 Spastic Paraplegia 30 14
578 c VSC042 Vesicoureteral Reflux 5 14
579 c HMN024 Hemangioma, Hereditary 14
580 c SPS165 Spastic Paraplegia 47 14
581 c SPS181 Spastic Paraplegia 72 14
582 c SPS056 Spastic Paraplegia 44 14
583 c HRD187 Hereditary Spastic Paraplegia 62 13
584 c HRD188 Hereditary Spastic Paraplegia 72 13
585 c OTS006 Otosclerosis 2 13
586 c OTS008 Otosclerosis 4 13
587 c SPS053 Spastic Paraplegia 33 13
588 c SPS177 Spastic Paraplegia 54 13
589 c SPS179 Spastic Paraplegia 57 13
590 c SPS180 Spastic Paraplegia 61 13
591 c MYG006 Myoglobinuria, Autosomal Dominant 13
592 c SPS029 Spastic Paraplegia 19 13
593 LWG002 Low Gamma-Gt Familial Intrahepatic Cholestasis 13
594 c SPS166 Spastic Paraplegia 50 13
595 c SPS032 Spastic Paraplegia 24 13
596 c OTS012 Otosclerosis 10 13
597 c TNN008 Tnni3-Related Familial Restrictive Cardiomyopathy 12
598 c SPS164 Spastic Paraplegia 28 12
599 c SPS055 Spastic Paraplegia 42 12
600 c SPS167 Spastic Paraplegia 52 12
601 c SPS178 Spastic Paraplegia 55 12
602 c SPS168 Spastic Paraplegia 56 12
603 c VSC040 Vesicoureteral Reflux 4 12
604 c VSC043 Vesicoureteral Reflux 6 12
605 DGH001 Doughnut Lesions of Skull, Familial 12
606 c SPS076 Spastic Paraplegia 48 11
607 c SPS140 Spastic Paraplegia 64 11
608 c SPS182 Spastic Paraplegia 75 11
609 c SPS201 Spastic Paraplegia 76 11
610 c TNN012 Tnnt2-Related Familial Restrictive Cardiomyopathy 11
611 GGN006 Gigantiform Cementoma, Familial 11
612 c PRM178 Primary Familial Brain Calcification 2 11
613 c JPH001 Jph2-Related Familial Hypertrophic Cardiomyopathy 11
614 c SPS199 Spastic Paraplegia 59 11
615 c VSC041 Vesicoureteral Reflux 7 10
616 ANG063 Angiolipomatosis, Familial 10
617 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
618 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
619 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
620 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
621 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
622 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
623 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
624 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
625 c PRM179 Primary Familial Brain Calcification 3 10
626 FML082 Familial Partial Paralysis 10
627 c OTS010 Otosclerosis 7 10
628 c OTS011 Otosclerosis 8 10
629 c CHR323 Chrna1-Related Congenital Myasthenic Syndrome 10
630 FML061 Familial Erythema Nodosum 10
631 c SPS176 Spastic Paraplegia 53 10
632 c SPS169 Spastic Paraplegia 66 10
633 c SPS040 Spastic Paraplegia 5b 10
634 c SYT001 Syt2-Related Congenital Myasthenic Syndrome 10
635 c CLR119 Calr3-Related Familial Hypertrophic Cardiomyopathy 10
636 c VCL006 Vcl-Related Familial Hypertrophic Cardiomyopathy 10
637 EPL124 Epilepsy, Familial Temporal Lobe, 6 9
638 c ABC015 Abcc9-Related Familial Atrial Fibrillation 9
639 c KCN001 Kcna5-Related Familial Atrial Fibrillation 9
640 c KCN008 Kcnj2-Related Familial Atrial Fibrillation 9
641 c GJ5001 Gja5-Related Familial Atrial Fibrillation 9
642 c CL1006 Col13a1-Related Congenital Myasthenic Syndrome 9
643 c SNP001 Snap25-Related Congenital Myasthenic Syndrome 9
644 c DDX002 Ddx41-Related Susceptibility to Familial Myeloproliferative/lymphoproliferative Neoplasms 9
645 c MYL063 Myl4-Related Familial Atrial Fibrillation 9
646 c NPP005 Nppa-Related Familial Atrial Fibrillation 6 9
647 c SCN056 Scn1b-Related Familial Atrial Fibrillation 9
648 c OVR071 Ovarian Insufficiency, Familial 8
649 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 8
650 PGT010 Paget Disease of Bone 5, Juvenile 8
651 c PRM180 Primary Familial Brain Calcification 4 8
652 c ITG003 Itgam-Related Susceptibility to Systemic Lupus Erythematosus 8
653 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 8
654 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
655 c CLQ001 Colq-Related Congenital Myasthenic Syndrome 8
656 c MSK001 Musk-Related Congenital Myasthenic Syndrome 8
657 P FML332 Familial Atypical Mycobacteriosis, X-Linked, Ikbkg-Related 8
658 c SCN054 Scn2b-Related Familial Atrial Fibrillation 8
659 c SCN057 Scn3b-Related Familial Atrial Fibrillation 8
660 c SCN058 Scn5a-Related Familial Atrial Fibrillation 8
661 c MYP115 Mypn-Related Familial Restrictive Cardiomyopathy 8
662 FML135 Familial Isolated Noncompaction of Left Ventricular Myocardium 8
663 c OTS009 Otosclerosis 5 8
664 c CR2002 Cr2-Related Susceptibility to Systemic Lupus Erythematosus 7
665 PLM055 Pulmonary Artery Familial Dilatation 7
666 c KCN002 Kcne2-Related Familial Atrial Fibrillation 7
667 c KCN009 Kcnq1-Related Familial Atrial Fibrillation 7
668 c FLN008 Flnc-Related Familial Restrictive Cardiomyopathy 7
669 c CV3002 Cav3-Related Hypertrophic Cardiomyopathy 7
670 c NTR012 Ntrk1-Related Familial Medullary Thyroid Carcinoma 7
671 c PCS001 Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant 6
672 c CHT004 Chat-Related Congenital Myasthenic Syndrome 6
673 c CHR327 Chrnb1-Related Congenital Myasthenic Syndrome 6
674 c CHR329 Chrnd-Related Congenital Myasthenic Syndrome 6
675 c CHR331 Chrne-Related Congenital Myasthenic Syndrome 6
676 c DK7001 Dok7-Related Congenital Myasthenic Syndrome 6
677 c GFP001 Gfpt1-Related Congenital Myasthenic Syndrome 6
678 c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 6
679 c SCN019 Scn4a-Related Congenital Myasthenic Syndrome 6
680 SYN032 Synovial Chondromatosis, Familial with Dwarfism 6
681 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 6
682 c OTS004 Otosclerosis, Familial 6
683 PLM063 Pulmonary Hypoplasia Familial Primary 6
684 c DNS006 Dnase1-Related Susceptibility to Systemic Lupus Erythematosus 6
685 c MSH007 Msh3-Related Attenuated Familial Adenomatous Polyposis 6
686 c FML158 Familial Hemangioma 5
687 NSL012 Nasal Polyposis, Familial 5
688 EPL014 Epilepsy, Partial, Familial 5
689 c FGR001 Fga-Related Congenital Afibrinogenemia 5
690 c FGB001 Fgb-Related Congenital Afibrinogenemia 5
691 c FGG001 Fgg-Related Congenital Afibrinogenemia 5
692 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 5
693 c MYG002 Myoglobinuria Dominant Form 3
694 c SZR003 Seizures Benign Familial Neonatal Recessive Form 3
695 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
696 ANT031 Anterior Pituitary Insufficiency, Familial 3
697 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
698 HYP197 Hypofibrinogenemia, Familial 3
699 RGH002 Right Atrium Familial Dilatation 3
700 SHL003 Shoulder Girdle Defect Mental Retardation Familial 3
701 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 2
702 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 2
703 NPH022 Nephropathy Familial with Hyperuricemia 2
704 DST014 Distal Primary Acidosis, Familial 2
705 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 2
706 HYP177 Hypertensive Hypokalemia Familial 2
707 ACT164 Actinic Prurigo 44
708 c ATR069 Atrial Fibrillation, Familial, 12 25
709 c ATR072 Atrial Fibrillation, Familial, 13 24
710 c FML339 Familial Adenomatous Polyposis 4 23
711 c ATR068 Atrial Fibrillation, Familial, 14 23
712 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
713 c ATR059 Atrial Fibrillation, Familial, 11 21
714 c EPL192 Epilepsy, Familial Focal, with Variable Foci 3 16
715 P PRK057 Parkinson Disease, Late-Onset 68
716 P THY023 Thymoma 59
717 P BRG001 Brugada Syndrome 59
718 c PRK031 Parkinson Disease 1 51
719 NRM003 Norum Disease 51
720 c PRK024 Parkinson Disease, Juvenile, Type 2 48
721 c PRK027 Parkinson Disease 15, Autosomal Recessive 47
722 c PRK059 Parkinson Disease 8 42
723 FML091 Familial Tumoral Calcinosis 42
724 c PRK020 Parkinson Disease 6, Early Onset 41
725 c PRK025 Parkinson Disease 10 40
726 c BRG007 Brugada Syndrome 5 39
727 c ALZ035 Alzheimer Disease-4 39
728 ATS009 Autosomal Genetic Disease 38
729 c PRK045 Parkinson Disease 5 37
730 c BRG006 Brugada Syndrome 2 34
731 c ERL047 Early-Onset Parkinson Disease 34
732 c BRG005 Brugada Syndrome 1 34
733 c PRK051 Parkinson Disease 18 32
734 c TYP010 Type C Thymoma 31
735 c PRK026 Parkinson Disease 11 31
736 c INV003 Invasive Malignant Thymoma 30
737 c PRK052 Parkinson Disease 17 30
738 P EPS030 Episodic Kinesigenic Dyskinesia 1 30
739 GLC043 Glucocorticoid Deficiency 2 29
740 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 29
741 c PRK037 Parkinson Disease 13 28
742 c ATR061 Atrial Fibrillation, Familial, 10 27
743 c PRK070 Parkinson Disease 21 27
744 NRP034 Neuropathy, Inflammatory Demyelinating 27
745 P FML313 Familial Progressive Hyperpigmentation 27
746 c SNC002 Snca-Related Parkinson Disease 26
747 c BRG003 Brugada Syndrome 3 26
748 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 26
749 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
750 c ATR038 Atrial Fibrillation, Familial, 3 26
751 c ATR075 Atrial Fibrillation 15 26
752 c PRK065 Parkinson Disease 20, Early-Onset 25
753 c BRG008 Brugada Syndrome 6 25
754 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
755 c ATR037 Atrial Fibrillation, Familial, 7 24
756 c PRK071 Parkinson Disease 14, Autosomal Recessive 24
757 c ATR035 Atrial Fibrillation, Familial, 6 24
758 c THY107 Thymoma, Familial 24
759 c PRK022 Parkinson Disease 12 24
760 c ATR039 Atrial Fibrillation, Familial, 4 23
761 c BRG009 Brugada Syndrome 7 23
762 c HRD173 Hereditary Late-Onset Parkinson Disease 23
763 GLC090 Glucocorticoid Deficiency 4, with or Without Mineralocorticoid Deficiency 23
764 c ATR070 Atrial Fibrillation, Familial, 9 23
765 c BRG004 Brugada Syndrome 4 23
766 c ART134 Aortic Aneurysm, Familial Thoracic 10 23
767 LCR013 Lacrimal Duct Defect 22
768 c PRK007 Parkinson Disease Type 3 22
769 c ART118 Aortic Aneurysm, Familial Thoracic 9 22
770 c PRK079 Parkinson Disease 23, Autosomal Recessive, Early Onset 21
771 c CND031 Candidiasis, Familial, 9 21
772 c ART107 Aortic Aneurysm, Familial Thoracic 8 20
773 TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 20
774 c ATR085 Atrial Fibrillation, Familial, 18 20
775 c PRK008 Parkinson Disease Type 9 20
776 c BRG010 Brugada Syndrome 8 20
777 c PRK058 Parkinson Disease 16 20
778 c BRG012 Brugada Syndrome 9 19
779 c THY085 Thymoma Type a 18
780 c EPS013 Episodic Kinesigenic Dyskinesia 2 17
781 FML097 Familial Amyloid Cardiomyopathy 17
782 c LRR001 Lrrk2-Related Parkinson Disease 17
783 c PL2003 Pla2g6-Related Parkinson Disease 17
784 c ANT041 Antiphospholipid Syndrome, Familial 17
785 c JVN052 Juvenile-Onset Parkinson Disease 16
786 c MLG034 Malignant Type a Thymoma 15
787 c PRK083 Parkinson Disease 22, Autosomal Dominant 13
788 c VPS003 Vps35-Related Parkinson Disease 13
789 c THY086 Thymoma Type B 13
790 c FBX001 Fbxo7-Related Parkinson Disease 12
791 c FML226 Familial Dupuytren Contracture 12
792 c EF4001 Eif4g1-Related Parkinson Disease 10
793 c THY087 Thymoma Type Ab 10
794 c GGY001 Gigyf2-Related Parkinson Disease 10
795 c HTR006 Htra2-Related Parkinson Disease 10
796 c HYP563 Hyperpigmentation, Familial Progressive, 1 9
797 c XNC002 X Inactivation, Familial Skewed, 2 9
798 c SYN072 Synj1-Related Parkinson Disease 9
799 c DNJ003 Dnajc6-Related Parkinson Disease 8
800 c PRK015 Park7-Related Parkinson Disease 8
801 c MLG040 Malignant Type Ab Thymoma 8
802 c BRG014 Brugada Syndrome, Rangrf-Related 6
803 c SCN021 Scn5a-Related Brugada Syndrome 6
804 P CLR023 Colorectal Cancer 95
805 P RTN024 Retinoblastoma 75
806 c HYP595 Hypertension, Essential 66
807 P KDN018 Kidney Disease 65
808 P CRN037 Craniosynostosis 65
809 c CHR089 Chronic Kidney Failure 65
810 P LNG028 Long Qt Syndrome 64
811 c LNG044 Long Qt Syndrome 1 62
812 P SHR029 Short Syndrome 61
813 c LNG047 Long Qt Syndrome 2 59
814 P HYP060 Hyperinsulinism 57
815 P HYP083 Hypopituitarism 54
816 TTH002 Tooth Agenesis 52
817 c LNG050 Long Qt Syndrome 5 52
818 P LPC002 Lip Cancer 52
819 P ENC018 Encephalopathy 52
820 c INS002 in Situ Carcinoma 51
821 c LNG051 Long Qt Syndrome 6 50
822 HMZ003 Homozygous Familial Hypercholesterolemia 50
823 P HYP090 Hyperalphalipoproteinemia 49
824 c ACT071 Acute Kidney Failure 48
825 c HYP726 Hypercalcemia, Infantile, 1 47
826 P SYR001 Syringomyelia 47
827 c MLG069 Malignant Hypertension 46
828 c CLR085 Colorectal Cancer 1 46
829 c LNG092 Long Qt Syndrome-3 46
830 c SHR030 Short Qt Syndrome 45
831 P RNL017 Renal Oncocytoma 45
832 c LNG057 Long Qt Syndrome 13 45
833 P KRT005 Keratoacanthoma 45
834 P CHL092 Chilblain Lupus 45
835 c LNG053 Long Qt Syndrome 9 44
836 HRT015 Heritable Pulmonary Arterial Hypertension 44
837 c LNG056 Long Qt Syndrome 12 44
838 c LNG096 Long Qt Syndrome 15 44
839 c FML191 Familial Long Qt Syndrome 44
840 P THR027 Thoracic Aortic Aneurysms and Aortic Dissections 43
841 c PRM023 Pre-Malignant Neoplasm 43
842 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
843 c HRD169 Hereditary Colorectal Cancer 41
844 c PRK030 Parkinson Disease 4 41
845 P ORF002 Orofacial Cleft 40
846 c HRD009 Hereditary Wilms' Tumor 40
847 P DPY001 Dupuytren Contracture 40
848 MCL027 Macular Dystrophy, Dominant Cystoid 39
849 c MNS014 Monosomy 22 38
850 P HMF004 Hemifacial Spasm 37
851 P FML187 Familial Hypertension 37
852 P BND018 Band Heterotopia 36
853 P HYP120 Hypoaldosteronism 36
854 P GLM006 Glomangioma 35
855 c FML311 Familial Colorectal Cancer Type X 35
856 c CRN278 Craniosynostosis 1 35
857 c CLR080 Colorectal Cancer 5 34
858 c LNG098 Long Qt Syndrome 14 34
859 FCT016 Factor V and Factor Viii, Combined Deficiency of 33
860 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 33
861 PSD021 Pseudovaginal Perineoscrotal Hypospadias 33
862 c CLR077 Colorectal Cancer 10 33
863 c CRN277 Craniosynostosis 2 33
864 c CLR087 Colorectal Cancer 12 33
865 c FML297 Familial Thyroid Dyshormonogenesis 33
866 c PRN053 Porencephaly 1 32
867 P LTT001 Lattice Corneal Dystrophy 32
868 MGL016 Megaloblastic Anemia-1, Finnish Type 32
869 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 31
870 c HRD185 Hereditary Spastic Paraplegia 3a 31
871 c FML008 Familial Retinoblastoma 31
872 c FML294 Familial Short Qt Syndrome 31
873 c ANT068 Anterior Segment Dysgenesis 2, Multiple Subtypes 31
874 c CRN221 Craniosynostosis 4 31
875 c CLR081 Colorectal Cancer 6 31
876 CMB005 Combined Factor V and Viii Deficiency 30
877 c CLR079 Colorectal Cancer 2 30
878 c SPR083 Sporadic Hemiplegic Migraine 30
879 P GST100 Gastric Neuroendocrine Tumor 30
880 c CLR075 Colorectal Cancer 3 29
881 c MLG039 Malignant Essential Hypertension 29
882 ACH015 Achalasia, Familial Esophageal 29
883 c CRN256 Craniosynostosis 6 29
884 c MLG080 Malignant Secondary Hypertension 29
885 c CRN217 Craniosynostosis 3 28
886 c SHR032 Short Qt Syndrome 2 28
887 P CHL115 Cholestasis, Intrahepatic, of Pregnancy, 3 28
888 c ALZ047 Alzheimer's Disease 10 28
889 FML280 Familial Rhabdoid Tumor 27
890 SHR042 Short Stature, Idiopathic Familial 26
891 c SHR031 Short Qt Syndrome 1 26
892 c CLR083 Colorectal Cancer 8 26
893 c CRN281 Craniosynostosis 7 26
894 c SHR033 Short Qt Syndrome 3 26
895 c ALZ016 Alzheimer Disease 8 25
896 c MNS008 Monosomy 21 25
897 c FML306 Familial or Sporadic Hemiplegic Migraine 25
898 c BNG021 Benign Essential Hypertension 25
899 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 25
900 c THY071 Thyroid Dyshormonogenesis 1 24
901 c WLM005 Wilms Tumor 2 24
902 c ALZ012 Alzheimer Disease 12 24
903 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 24
904 c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 24
905 c ALZ002 Alzheimer Disease Type 1 24
906 c CRN216 Craniosynostosis 5 24
907 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 23
908 c ORF027 Orofacial Cleft 11 23
909 EPL071 Epilepsy, Nocturnal Frontal Lobe, Type 4 23
910 c RNL016 Renal Infectious Disease 23
911 c THY063 Thyroid Dyshormonogenesis 4 23
912 FML264 Familial Bicuspid Aortic Valve 23
913 c CLR082 Colorectal Cancer 7 23
914 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 22
915 c WLM011 Wilms Tumor 6 22
916 P THY061 Thyroid Dyshormonogenesis 2a 22
917 c FML268 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 22
918 c ANT074 Anterior Segment Dysgenesis 5, Multiple Subtypes 22
919 c ANT072 Anterior Segment Dysgenesis 3, Multiple Subtypes 21
920 c ORF025 Orofacial Cleft 6 21
921 VLV047 Volvulus of Midgut 21
922 c ATR026 Atrial Fibrillation, Familial, 1 21
923 c ORF014 Orofacial Cleft 5 20
924 PTR030 Pterygium of Conjunctiva and Cornea 20
925 c HYP712 Hypercalcemia, Infantile, 2 20
926 c HYP519 Hyperekplexia 3 20
927 c FML302 Familial Schizencephaly, Shh-Related 20
928 c CLR078 Colorectal Cancer 11 20
929 c CLR084 Colorectal Cancer 9 20
930 c ALZ039 Alzheimer's Disease 7 20
931 P MTR040 Mitral Valve Prolapse, Myxomatous 1 20
932 c LNG093 Long Qt Syndrome-11 20
933 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
934 c HYP536 Hyperekplexia 2, Autosomal Recessive 19
935 VNT009 Ventricular Tachycardia, Idiopathic 19
936 c THY056 Thyroid Dyshormonogenesis 3 19
937 c THY110 Thyroid Dyshormonogenesis 6 19
938 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 19
939 c ORF028 Orofacial Cleft 10 19
940 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 19
941 MYL052 Myeloproliferative Neoplasms, Familial 19
942 c FML337 Familial Chilblain Lupus 19
943 c ANT070 Anterior Segment Dysgenesis 6, Multiple Subtypes 18
944 P ACT232 Acute Necrotizing Encephalopathy 18
945 c CHL114 Chilblain Lupus 2 18
946 c FBR073 Febrile Seizures, Familial, 1 18
947 P MNS011 Monosomy 9q22.3 18
948 P FML153 Familial Wilms Tumor 18
949 c HYP699 Hyperekplexia 1 18
950 c FML110 Familial Cerebral Cavernous Malformation 2 18
951 c ATR027 Atrial Fibrillation, Familial, 5 17
952 c THY062 Thyroid Dyshormonogenesis 5 17
953 ECT038 Ectopia Lentis, Familial 17
954 c ORF047 Orofacial Cleft 15 17
955 FML341 Familial Hyperinsulinsism 17
956 c FML028 Familial Renal Oncocytoma 17
957 c FML223 Familial Keratoacanthoma 17
958 DRM041 Dermoid Cysts, Familial Frontonasal 17
959 c HYP454 Hypertension, Essential 8 17
960 FXL001 Foix-Alajouanine Syndrome 16
961 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 16
962 c ATR025 Atrial Fibrillation, Familial, 2 16
963 c FML303 Familial/multiple Cancer 16
964 LRY046 Laryngeal Web, Familial 16
965 c HYP684 Hypertryptophanemia, Familial 15
966 c FML267 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 15
967 c ATR028 Atrial Fibrillation, Familial, 8 15
968 P HYP237 Hypercalcemia, Infantile 15
969 c CND027 Candidiasis, Familial, 3 15
970 c ORF031 Orofacial Cleft 14 15
971 c HYP453 Hypertension, Essential 7 15
972 c GNS004 Geniospasm 1 15
973 APL003 Apolipoprotein a-Ii Deficiency 15
974 c FML109 Familial Cerebral Cavernous Malformation 1 15
975 c FML111 Familial Cerebral Cavernous Malformation 3 15
976 c PMP006 Pemphigus Vulgaris, Familial 15
977 c HRD084 Hereditary Cerebral Amyloid Angiopathy 15
978 c MTR042 Mitral Valve Prolapse, Myxomatous 3 15
979 c PRM211 Primary Familial Brain Calcification 5 14
980 c SCN048 Secondary Syringomyelia 14
981 c LPC001 Lip Carcinoma in Situ 14
982 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 14
983 c HMF011 Hemifacial Spasm, Familial 13
984 c FBR074 Febrile Seizures, Familial, 6 13
985 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 13
986 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 13
987 c FBR075 Febrile Seizures, Familial, 2 13
988 c PRM168 Primary Syringomyelia 12
989 FML336 Familial Patent Arterial Duct 12
990 c FML072 Familial Hypopituitarism 12
991 c SPR097 Sporadic Hyperekplexia 12
992 c ORF020 Orofacial Cleft 12 12
993 CRT064 Corticosterone Methyloxidase Deficiency 12
994 c FML275 Familial Hypoaldosteronism 12
995 P SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 12
996 c ART068 Aortic Aneurysm, Familial Thoracic 2 12
997 c FBR071 Febrile Seizures, Familial, 5 12
998 c ATS125 Autosomal Recessive Infantile Hypercalcemia 12
999 c FGF004 Fgfr2-Related Craniosynostosis 12
1000 c TWS001 Twist1-Related Craniosynostosis 12
1001 SHL007 Shoulder and Girdle Defects-Familial Intellectual Disability Syndrome 12
1002 FML078 Familial Myelofibrosis 11
1003 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 11
1004 c FML335 Familial Gastric Type 1 Neuroendocrine Tumor 11
1005 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 11
1006 c ACT229 Acute Necrotizing Encephalopathy Type 1 11
1007 c FBR067 Febrile Seizures, Familial, 9 11
1008 c CRN112 Craniosynostosis, Nonsyndromic 11
1009 c MSX001 Msx2-Related Craniosynostosis 11
1010 FML202 Familial Alzheimer-Like Prion Disease 11
1011 c ORF023 Orofacial Cleft 4 11
1012 c BNG034 Benign Secondary Hypertension 11
1013 c FML025 Familial Glomangioma 10
1014 GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 10
1015 P DGT007 Digital Arthropathy-Brachydactyly 10
1016 c FML255 Familial Syringomyelia 10
1017 P HRD194 Hereditary Geniospasm 10
1018 c FML230 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 10
1019 c FML258 Familial Acute Necrotizing Encephalopathy 10
1020 c FML136 Familial Mediterranean Fever Type 1 10
1021 FML079 Familial Nasal Acilia 10
1022 c FML137 Familial Mediterranean Fever Type 2 10
1023 c EYC001 Eye Carcinoma in Situ 9
1024 c CHL126 Cholestasis, Familial Intrahepatic, of Pregnancy 3 9
1025 c TCF002 Tcf12-Related Craniosynostosis 9
1026 c ORF029 Orofacial Cleft 13 9
1027 c GLD005 Glud1-Related Hyperinsulinism 9
1028 c FML106 Familial Atypical Mycobacteriosis, Tyk2-Related 9
1029 c AGR012 Agrn-Related Congenital Myasthenic Syndrome 9
1030 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1031 c ZC1001 Zic1-Related Craniosynostosis 8
1032 c SZR011 Seizures, Benign Familial Infantile, 4 8
1033 c RNR002 Ren-Related Kidney Disease 8
1034 MNN045 Meningioma, Familial Susceptibility 8
1035 c ORF024 Orofacial Cleft 9 8
1036 c CHL125 Cholestasis, Familial Intrahepatic, of Pregnancy 1 8
1037 c FGF003 Fgfr1-Related Craniosynostosis 8
1038 c ERF001 Erf-Related Craniosynostosis 8
1039 P HYP187 Hypertryptophanemia 8
1040 FML141 Familial Oculoleptomeningeal Amyloidosis 8
1041 c CRD057 Cardiomyopathy, Familial Restrictive, 2 7
1042 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 7
1043 c FBR068 Febrile Seizures, Familial, 10 7
1044 c FBR076 Febrile Seizures, Familial, 7 7
1045 FML151 Familial Thrombotic Thrombocytopenia Purpura 7
1046 c CSR005 Csrp3-Related Familial Hypertrophic Cardiomyopathy 7
1047 c ACT125 Actc1-Related Familial Hypertrophic Cardiomyopathy 7
1048 c ACT127 Actn2-Related Familial Hypertrophic Cardiomyopathy 7
1049 c MYB003 Mybpc3-Related Familial Hypertrophic Cardiomyopathy 7
1050 c MYH008 Myh6-Related Familial Hypertrophic Cardiomyopathy 7
1051 c MYH010 Myh7-Related Familial Hypertrophic Cardiomyopathy 7
1052 c MYL021 Myl2-Related Familial Hypertrophic Cardiomyopathy 7
1053 c MYL022 Myl3-Related Familial Hypertrophic Cardiomyopathy 7
1054 c MYZ001 Myoz2-Related Familial Hypertrophic Cardiomyopathy 7
1055 c NXN002 Nexn-Related Familial Hypertrophic Cardiomyopathy 7
1056 c TCP002 Tcap-Related Familial Hypertrophic Cardiomyopathy 7
1057 c TNN004 Tnnc1-Related Familial Hypertrophic Cardiomyopathy 7
1058 c TNN007 Tnni3-Related Familial Hypertrophic Cardiomyopathy 7
1059 c TNN011 Tnnt2-Related Familial Hypertrophic Cardiomyopathy 7
1060 c TPM002 Tpm1-Related Familial Hypertrophic Cardiomyopathy 7
1061 c TTN005 Ttn-Related Familial Hypertrophic Cardiomyopathy 7
1062 c PLN013 Pln-Related Familial Hypertrophic Cardiomyopathy 7
1063 c LDL002 Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant 7
1064 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 7
1065 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 7
1066 MRF014 Marfan Syndrome/loeys-Dietz Syndrome/familial Thoracic Aortic Aneurysms and Dissections 7
1067 FML074 Familial Interstitial Fibrosis 7
1068 c KCN011 Kcnq3-Related Benign Familial Neonatal Epilepsy 7
1069 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 7
1070 c ACT123 Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections 7
1071 c LRP004 Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive 7
1072 c MYH005 Myh11-Related Thoracic Aortic Aneurysms and Aortic Dissections 7
1073 c RD5001 Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer 7
1074 c RD5003 Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer 7
1075 ARR043 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy13 6
1076 c FML331 Familial Atypical Mycobacteriosis, X-Linked, Cybb-Related 6
1077 c FBN001 Fbn1-Related Thoracic Aortic Aneurysms and Aortic Dissections 6
1078 c TGF002 Tgfbr1-Related Thoracic Aortic Aneurysms and Aortic Dissections 6
1079 c TGF004 Tgfbr2-Related Thoracic Aortic Aneurysms and Aortic Dissections 6
1080 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 6
1081 c LRP003 Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant 6
1082 c FZD001 Fzd4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant 6
1083 c MYL023 Mylk-Related Thoracic Aortic Aneurysms and Aortic Dissections 6
1084 c TSP001 Tspan12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant 6
1085 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1086 c HYP245 Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related 6
1087 c HYP246 Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related 6
1088 c ARH002 Arhgef9-Related Hyperekplexia 6
1089 c GLR001 Glra1-Related Hyperekplexia 6
1090 c GLR002 Glrb-Related Hyperekplexia 6
1091 c GPH001 Gphn-Related Hyperekplexia 6
1092 c SLC017 Slc6a5-Related Hyperekplexia 6
1093 c ABC010 Abcc8-Related Hyperinsulinism 6
1094 c FML112 Familial Cerebral Cavernous Malformation 4 6
1095 c APB001 Apob-Related Familial Hypercholesterolemia, Autosomal Dominant 6
1096 c LDL003 Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive 6
1097 c INS026 Insr-Related Hyperinsulinism 6
1098 c MFP001 Mfap5-Related Thoracic Aortic Aneurysms and Aortic Dissections 6
1099 c SLC029 Slc16a1-Related Hyperinsulinism 6
1100 P STT036 Stuttering, Familial Persistent, 3 6
1101 c STT039 Stuttering, Familial Persistent, 4 6
1102 c PRK072 Prkg1-Related Thoracic Aortic Aneurysms and Aortic Dissections 6
1103 c CSR003 Casr-Related Familial Isolated Hypoparathyroidism 5
1104 c AP1002 Apoa1-Related Familial Visceral Amyloidosis 5
1105 c LYZ001 Lyz-Related Familial Visceral Amyloidosis 5
1106 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 5
1107 c FGR002 Fga-Related Familial Visceral Amyloidosis 5
1108 c FML148 Familial Schizencephaly, Emx2-Related 5
1109 c FML149 Familial Schizencephaly, Six3-Related 5
1110 c GCM001 Gcm2-Related Familial Isolated Hypoparathyroidism 5
1111 c PTH004 Pth-Related Familial Isolated Hypoparathyroidism 5
1112 c SMD004 Smad3-Related Thoracic Aortic Aneurysms and Aortic Dissections 5
1113 c HYP244 Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related 5
1114 P FML098 Familial Amyloid Polyneuropathy Type 1 5
1115 c FML099 Familial Amyloid Polyneuropathy Type Ii 5
1116 c CRN093 Craniosynostosis Autosomal Dominant 5
1117 P SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
1118 c ACQ050 Acquired Schizencephaly 5
1119 c EPH002 Ephx1-Related Familial Hypercholanemia 5
1120 c BTR003 Baat-Related Familial Hypercholanemia 5
1121 c TJP001 Tjp2-Related Familial Hypercholanemia 5
1122 c CTP001 Cetp-Related Hyperalphalipoproteinemia 5
1123 c SMD010 Smad2-Related Thoracic Aortic Aneurysms and Aortic Dissections 4
1124 c SFT006 Sftpc-Related Familial Pulmonary Fibrosis 4
1125 c TRT009 Tert-Related Familial Pulmonary Fibrosis 4
1126 c TRC066 Terc-Related Familial Pulmonary Fibrosis 4
1127 c GCK001 Gck-Related Hyperinsulinism 4
1128 c HDH001 Hadh-Related Hyperinsulinism 4
1129 c HNF002 Hnf4a-Related Hyperinsulinism 4
1130 c KCN004 Kcnj11-Related Hyperinsulinism 4
1131 FML216 Familial Isolated Clinodactyly of Fingers 4
1132 c FML101 Familial Atypical Mycobacteriosis, Ifngr1-Related 4
1133 c FML102 Familial Atypical Mycobacteriosis, Ifngr2-Related 4
1134 c FML103 Familial Atypical Mycobacteriosis, Il12b-Related 4
1135 c FML104 Familial Atypical Mycobacteriosis, Il12rb1-Related 4
1136 c FML105 Familial Atypical Mycobacteriosis, Stat1-Related 4
1137 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
1138 P SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
1139 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 4
1140 FML132 Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Prkag2-Related 4
1141 FML342 Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome 4
1142 CSR001 Casr-Associated Familial Isolated Hypoparathyroidism 3
1143 ABC003 Abca1-Associated Familial High Density Lipoprotein Deficiency 3
1144 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
1145 AP1001 Apoa1-Associated Familial High Density Lipoprotein Deficiency 3
1146 c FML317 Familial Monosomy 7 Syndrome 3
1147 CDC002 Cdc73-Related Familial Isolated Hyperparathyroidism 3
1148 c FML049 Familial Band Heterotopia 3
1149 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 3
1150 ABC005 Abca1-Related Familial High Density Lipoprotein Deficiency 2
1151 FML047 Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension 2
1152 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80
1153 P RTN008 Retinitis Pigmentosa 80
1154 P DBT085 Diabetes Mellitus, Insulin-Dependent 79
1155 P MYC007 Myocardial Infarction 77
1156 P PLM037 Pulmonary Hypertension 77
1157 P HRT032 Heart Disease 75
1158 P APL001 Aplastic Anemia 74
1159 P CRN211 Coronary Artery Disease 73
1160 P MDL005 Medulloblastoma 73
1161 STR067 Stroke, Ischemic 72
1162 P HMC003 Hemochromatosis 72
1163 P PHC003 Pheochromocytoma 72
1164 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1165 P SCH015 Schizophrenia 71
1166 P INF038 Influenza 71
1167 P PFF001 Pfeiffer Syndrome 71
1168 c HPT073 Hepatitis C Virus 70
1169 P DMN001 Diamond-Blackfan Anemia 70
1170 P HPT021 Hepatitis 68
1171 P MYP004 Myopathy 68
1172 KPS004 Kaposi Sarcoma 67
1173 P CHR071 Charcot-Marie-Tooth Disease 67
1174 c HRD010 Hereditary Spastic Paraplegia 66
1175 P DYS007 Dyskeratosis Congenita 66
1176 P HYD006 Hydrocephalus 66
1177 P GLB002 Glioblastoma 66
1178 ATT013 Attention Deficit-Hyperactivity Disorder 66
1179 P CWD001 Cowden Disease 65
1180 P ATS007 Autism Spectrum Disorder 65
1181 P HLP001 Holoprosencephaly 65
1182 P AGM001 Agammaglobulinemia 64
1183 P CRN015 Cornelia De Lange Syndrome 64
1184 P BRD002 Bardet-Biedl Syndrome 64
1185 P PSR002 Psoriasis 64
1186 P LPR003 Leprosy 63
1187 ART005 Arteriovenous Malformation 63
1188 P WLD002 Waldenstrom Macroglobulinemia 63
1189 PSR001 Psoriatic Arthritis 63
1190 ATS001 Autistic Disorder 63
1191 c HPT001 Hepatitis C 62
1192 c HPT016 Hepatitis B 62
1193 P NRC002 Narcolepsy 62
1194 P CCK001 Cockayne Syndrome 62
1195 P INF037 Inflammatory Bowel Disease 62
1196 P LBR001 Leber Congenital Amaurosis 62
1197 P EHL001 Ehlers-Danlos Syndrome 61
1198 c JBR020 Joubert Syndrome 1 61
1199 P HRM001 Hermansky-Pudlak Syndrome 61
1200 ATP002 Atopy 61
1201 P HML002 Hemolytic Anemia 61
1202 OVR029 Ovarian Hyperstimulation Syndrome 61
1203 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61
1204 P DYS154 Dystonia 61
1205 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1206 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
1207 P MYM002 Moyamoya Disease 60
1208 P CTS001 Cutis Laxa 60
1209 P HYP086 Hypothyroidism 60
1210 P HLT001 Holt-Oram Syndrome 60
1211 c ATM010 Autoimmune Hemolytic Anemia 60
1212 P SDD001 Sudden Infant Death Syndrome 60
1213 c MCP004 Mucopolysaccharidosis Iv 60
1214 HPY002 H. Pylori Infection 60
1215 P WVR001 Weaver Syndrome 60
1216 P CNG015 Congenital Diaphragmatic Hernia 60
1217 P FCL005 Focal Segmental Glomerulosclerosis 60
1218 c PRM196 Premature Ovarian Failure 1 60
1219 c ACT075 Acute Myocardial Infarction 59
1220 P MRT001 Muir-Torre Syndrome 59
1221 P GLY013 Glycogen Storage Disease 59
1222 P SPR098 Supranuclear Palsy, Progressive 59
1223 P DRR001 Diarrhea 59
1224 P MYP006 Myopia 59
1225 P PNC025 Panic Disorder 58
1226 P VNT002 Ventricular Septal Defect 58
1227 c ESS001 Essential Tremor 58
1228 c MCP001 Mucopolysaccharidosis Iii 58
1229 P IDP010 Idiopathic Generalized Epilepsy 58
1230 P GLL020 Gallbladder Disease 58
1231 P MCR010 Microcephaly 58
1232 P INT063 Intellectual Disability 58
1233 c VRL010 Viral Hepatitis 58
1234 P MTR004 Maturity-Onset Diabetes of the Young 57
1235 EXF001 Exfoliation Syndrome 57
1236 P HYP035 Hypophosphatasia 57
1237 c ATM011 Autoimmune Hepatitis 57
1238 P DST002 Distal Arthrogryposis 57
1239 P CTR002 Cataract 57
1240 P RCK004 Rickets 57
1241 P PND002 Pendred Syndrome 56
1242 P STC001 Stickler Syndrome 56
1243 c HPT003 Hepatitis a 56
1244 P ACR001 Aicardi-Goutieres Syndrome 56
1245 P HYP055 Hypoplastic Left Heart Syndrome 56
1246 P LKD001 Leukodystrophy 56
1247 P WRD001 Waardenburg's Syndrome 56
1248 P PRM011 Primary Ciliary Dyskinesia 56
1249 P STR022 Stargardt Disease 56
1250 P BDD001 Budd-Chiari Syndrome 56
1251 c SPN294 Spinocerebellar Ataxia 1 56
1252 P MSC007 Muscle Hypertrophy 56
1253 P INT001 Intrahepatic Cholestasis 56
1254 c ALM001 Al Amyloidosis 56
1255 c HRD002 Hereditary Angioedema 56
1256 P GT001 Gout 55
1257 c BRD010 Bardet-Biedl Syndrome 1 55
1258 P MTC069 Mitochondrial Disorders 55
1259 c ART115 Aortic Valve Disease 1 55
1260 P ACH003 Achromatopsia 55
1261 P FND001 Fundus Albipunctatus 55
1262 P PRC031 Preeclampsia/eclampsia 1 55
1263 P SPN301 Spinocerebellar Ataxia 2 55
1264 P OCL002 Oculocutaneous Albinism 55
1265 P BRC006 Brachydactyly 55
1266 P DGR001 Digeorge Syndrome 54
1267 P CNG001 Congenital Myasthenic Syndrome 54
1268 P PRG013 Paraganglioma 54
1269 P LPR002 Leopard Syndrome 54
1270 P SCK004 Seckel Syndrome 54
1271 P USH001 Usher Syndrome 54
1272 P TWN003 Townes-Brocks Syndrome 54
1273 P CHL002 Childhood Absence Epilepsy 54
1274 P EPS003 Episodic Ataxia 54
1275 LG4001 Lig4 Syndrome 54
1276 c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 53
1277 P TRM003 Tremor 53
1278 c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53
1279 P HRD011 Hereditary Spherocytosis 53
1280 P LDD002 Liddle Syndrome 53
1281 P CNG010 Congenital Stationary Night Blindness 53
1282 P ICH004 Ichthyosis 53
1283 P SMP003 Simpson-Golabi-Behmel Syndrome 53
1284 P ERY008 Erythromelalgia 52
1285 HMR039 Hemorrhage, Intracerebral 52
1286 P ANG015 Angioedema 52
1287 c HRM005 Hermansky-Pudlak Syndrome 1 52
1288 P PLY014 Polycystic Kidney Disease 52
1289 KLD001 Keloids 52
1290 P STR020 Strabismus 52
1291 c GNG001 Gangliosidosis Gm1 52
1292 P HYP097 Hyperekplexia 52
1293 P PTS002 Ptosis 52
1294 P MLT007 Multiple Epiphyseal Dysplasia 52
1295 c SPN293 Spinocerebellar Ataxia 12 52
1296 c STR084 Stargardt Disease 1 52
1297 ART002 Arts Syndrome 52
1298 P ATR001 Atrioventricular Septal Defect 52
1299 P MSC033 Muscle Disorders 52
1300 P CNT004 Centronuclear Myopathy 52
1301 P LFT003 Left Ventricular Noncompaction 52
1302 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
1303 c CWD006 Cowden Syndrome 1 51
1304 c HPT007 Hepatitis E 51
1305 c SPN291 Spinocerebellar Ataxia 7 51
1306 P NNT009 Neonatal Diabetes Mellitus 51
1307 P THY054 Thyrotoxic Periodic Paralysis 51
1308 P FRS014 Fraser Syndrome 1 51
1309 P CFF008 Coffin-Siris Syndrome 1 51
1310 P GNG025 Gingival Fibromatosis 51
1311 P FNC043 Fanconi Anemia, Complementation Group E 51
1312 c PLY060 Polycystic Kidney Disease 2 51
1313 DRG011 Drug Addiction 51
1314 c RTN162 Retinitis Pigmentosa 2 51
1315 P AXN002 Axenfeld-Rieger Syndrome 51
1316 P SCH070 Schwannomatosis 51
1317 c CNT075 Central Precocious Puberty 50
1318 ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 50
1319 P LCT001 Lactic Acidosis 50
1320 P PRX021 Proximal Symphalangism 50
1321 VTR013 Vitreoretinopathy, Neovascular Inflammatory 50
1322 c DMN023 Diamond-Blackfan Anemia 1 50
1323 P PRM002 Primary Hyperoxaluria 50
1324 P ADM011 Adams-Oliver Syndrome 50
1325 c BRD014 Bardet-Biedl Syndrome 2 50
1326 P CPL006 Capillary Hemangioma 50
1327 MSC006 Muscle Glycogenosis 50
1328 P PRC019 Precocious Puberty 50
1329 P PRS049 Persistent Mullerian Duct Syndrome 50
1330 P CLL015 Collagen Disease 50
1331 c SPN314 Spinocerebellar Ataxia 10 50
1332 c MCL062 Mucolipidosis Ii Alpha/beta 50
1333 c PLY145 Polycystic Kidney Disease 1 50
1334 P FBR025 Fibrochondrogenesis 50
1335 c ADL023 Adult Medulloblastoma 49
1336 ALL001 Allan-Herndon-Dudley Syndrome 49
1337 c HRM006 Hermansky-Pudlak Syndrome 3 49
1338 c SPN312 Spinocerebellar Ataxia 14 49
1339 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1340 DBT084 Diabetes Mellitus, Ketosis-Prone 49
1341 P SNR012 Senior-Loken Syndrome-1 49
1342 P LSS002 Lissencephaly 48
1343 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48
1344 P PTN002 Patent Ductus Arteriosus 48
1345 c HYP293 Hypophosphatasia, Adult 48
1346 c BRD011 Bardet-Biedl Syndrome 10 48
1347 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1348 MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 48
1349 c MCP038 Mucopolysaccharidosis Iva 48
1350 P APL006 Aplasia Cutis Congenita 48
1351 c LBR012 Leber Congenital Amaurosis 2 48
1352 c FNC042 Fanconi Anemia, Complementation Group D2 48
1353 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
1354 HYP141 Hyperphenylalaninemia 48
1355 TMR010 Tumor Predisposition Syndrome 48
1356 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 48
1357 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
1358 P WLL002 Weill-Marchesani Syndrome 48
1359 P OPN001 Open-Angle Glaucoma 48
1360 P KRT007 Keratoconus 48
1361 c BRD012 Bardet-Biedl Syndrome 11 48
1362 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
1363 P NLD001 Nail Disease 47
1364 P SHR001 Short Bowel Syndrome 47
1365 P FNC044 Fanconi Anemia, Complementation Group C 47
1366 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 47
1367 TRN022 Transcobalamin Ii Deficiency 47
1368 VNW005 Von Willebrand Disease, Type 1 47
1369 BCT015 Bacteremia 47
1370 c BRD013 Bardet-Biedl Syndrome 12 47
1371 P RBN002 Robinow Syndrome 47
1372 P PRK001 Porokeratosis 47
1373 c HPT015 Hepatitis D 47
1374 c SPN296 Spinocerebellar Ataxia 17 47
1375 EST007 Estrogen Resistance 47
1376 PRT082 Preterm Premature Rupture of the Membranes 47
1377 P NML001 Nemaline Myopathy 47
1378 P INF049 Infantile Myofibromatosis 47
1379 P SCL048 Sclerosteosis 46
1380 c ATS013 Autosomal Recessive Congenital Ichthyosis 46
1381 MGR028 Migraine with or Without Aura 1 46
1382 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1383 MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 46
1384 c ERL020 Early-Onset Schizophrenia 46
1385 HYP135 Hypophosphatemic Rickets with Hypercalciuria 46
1386 P BRS053 Breast Fibroadenoma 46
1387 CRH004 Crohn Disease-Associated Growth Failure 46
1388 c RTN160 Retinitis Pigmentosa 60 46
1389 P CRT033 Corticobasal Degeneration 46
1390 P PRD008 Periodontitis 46
1391 GRF001 Graft-Versus-Host Disease, Protection Against 46
1392 c DYS146 Dystonia 24 46
1393 c ATS275 Autosomal Recessive Primary Microcephaly 46
1394 ENH001 Enhanced S-Cone Syndrome 46
1395 c GLC062 Glaucoma 1, Open Angle, E 46
1396 P HRP009 Herpes Simplex Encephalitis 46
1397 c SCN036 Secondary Progressive Multiple Sclerosis 46
1398 c ATS308 Autosomal Dominant Cerebellar Ataxia 46
1399 c LBR004 Leber Congenital Amaurosis 1 46
1400 c WLF009 Wolfram Syndrome 2 46
1401 c CHR537 Charcot-Marie-Tooth Disease, Type 1e 46
1402 c BRD044 Bardet-Biedl Syndrome 17 45
1403 c USH035 Usher Syndrome Type 2 45
1404 c CNG027 Congenital Hemolytic Anemia 45
1405 LPP002 Lipoprotein Glomerulopathy 45
1406 c RTN058 Retinitis Pigmentosa 3 45
1407 c SPN311 Spinocerebellar Ataxia 13 45
1408 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 45
1409 P PRM108 Primary Progressive Multiple Sclerosis 45
1410 P HYP087 Hypotrichosis 45
1411 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45
1412 c HRM008 Hermansky-Pudlak Syndrome 5 45
1413 SDD007 Sudden Cardiac Death 45
1414 OGD001 Ogden Syndrome 45
1415 c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 45
1416 P ORF001 Orofaciodigital Syndrome 45
1417 GLL032 Galloway-Mowat Syndrome 45
1418 P SPN250 Spondyloepimetaphyseal Dysplasia 45
1419 c HLP024 Holoprosencephaly 2 45
1420 c SPN305 Spinocerebellar Ataxia 11 44
1421 P KLP003 Klippel-Feil Syndrome 44
1422 P MLG086 Malignant Hyperthermia Susceptibility 44
1423 c HRD039 Hereditary Amyloidosis 44
1424 c SPN290 Spinocerebellar Ataxia 15 44
1425 DND001 Dandy-Walker Syndrome 44
1426 P INF016 Infantile Epileptic Encephalopathy 44
1427 c SPN100 Spinocerebellar Ataxia 27 44
1428 P AML002 Amelogenesis Imperfecta 44
1429 c BRD016 Bardet-Biedl Syndrome 4 44
1430 P PRM001 Primary Cutaneous Amyloidosis 44
1431 P MTH007 Methemoglobinemia 44
1432 P MSC022 Mosaic Variegated Aneuploidy Syndrome 44
1433 c SPN308 Spinocerebellar Ataxia 28 44
1434 c LBR014 Leber Congenital Amaurosis 4 44
1435 RBF001 Riboflavin Deficiency 44
1436 P MYT023 Myotonia Congenita 44
1437 P MCP012 Mucopolysaccharidosis Ih 44
1438 c BRD015 Bardet-Biedl Syndrome 3 44
1439 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43
1440 SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 43
1441 c HYP292 Hypophosphatasia, Infantile 43
1442 c FNC032 Fanconi Anemia, Complementation Group B 43
1443 HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43
1444 c WRD020 Waardenburg Syndrome, Type 4a 43
1445 P DNR001 Duane Retraction Syndrome 43
1446 c ORF040 Orofaciodigital Syndrome Viii 43
1447 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
1448 MCR165 Microphthalmia with Limb Anomalies 43
1449 CRR007 Cirrhosis, Cryptogenic 43
1450 c RTN050 Retinitis Pigmentosa 20 43
1451 P PSD003 Pseudohypoaldosteronism 43
1452 P FRN012 Frontometaphyseal Dysplasia 43
1453 c LKD015 Leukodystrophy, Hypomyelinating, 3 43
1454 c SPL024 Split-Hand/foot Malformation 3 43
1455 c CHR095 Chronic Progressive External Ophthalmoplegia 43
1456 c HYP507 Hypotrichosis 1 43
1457 MHR001 Mohr-Tranebjaerg Syndrome 43
1458 P JVN007 Juvenile Absence Epilepsy 43
1459 HRT030 Hartsfield Syndrome 43
1460 ACY006 Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 43
1461 c CNG012 Congenital Generalized Lipodystrophy 43
1462 c ANG041 Angioedema, Hereditary, Types I and Ii 43
1463 HYP319 Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 43
1464 TMP012 Temple Syndrome 43
1465 c CCK005 Cockayne Syndrome, Type a 42
1466 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 42
1467 c SPH013 Spherocytosis, Type 1 42
1468 c AMY090 Amyotrophic Lateral Sclerosis 8 42
1469 LFT009 Left Ventricular Outflow Tract Obstruction 42
1470 c CRN139 Cornelia De Lange Syndrome 1 42
1471 P CRN013 Craniodiaphyseal Dysplasia 42
1472 c EHL018 Ehlers-Danlos Syndrome Type Ii 42
1473 c USH008 Usher Syndrome, Type 1d 42
1474 c BRD033 Bardet-Biedl Syndrome 13 42
1475 DRS004 Door Syndrome 42
1476 c ACQ012 Acquired Angioedema 42
1477 c RTN043 Retinitis Pigmentosa 13 42
1478 P CLB002 Clubfoot 42
1479 c PSD106 Pseudo-Torch Syndrome 1 42
1480 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 42
1481 c RTN172 Retinitis Pigmentosa 1 42
1482 BMF001 Bamforth-Lazarus Syndrome 42
1483 c SPN304 Spinocerebellar Ataxia 8 42
1484 c PCH012 Pachyonychia Congenita 2 42
1485 P ATR010 Atrial Heart Septal Defect 42
1486 NCT008 Nicotine Dependence, Protection Against 42
1487 c AMY067 Amyotrophic Lateral Sclerosis 18 42
1488 c SPN265 Spinocerebellar Ataxia 36 42
1489 CRN241 Corneal Dystrophy, Congenital Stromal 42
1490 P RPP002 Rippling Muscle Disease 42
1491 c BRD020 Bardet-Biedl Syndrome 8 42
1492 c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42
1493 P VSC013 Visceral Heterotaxy 42
1494 MST006 Mast Syndrome 42
1495 HYD046 Hydatidiform Mole, Recurrent, 1 42
1496 GLC084 Glaucoma, Normal Tension 42
1497 WRS002 Warsaw Breakage Syndrome 42
1498 P ACQ022 Acquired Generalized Lipodystrophy 42
1499 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
1500 c AMY085 Amyotrophic Lateral Sclerosis 9 42
1501 c FNC045 Fanconi Anemia, Complementation Group F 42
1502 c RTN055 Retinitis Pigmentosa 26 42
1503 c USH034 Usher Syndrome, Type 2d 41
1504 EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 41
1505 CRN025 Corneal Dystrophy 41
1506 c INF086 Inflammatory Bowel Disease 3 41
1507 FRG010 Fragile X Tremor/ataxia Syndrome 41
1508 c ART119 Arthrogryposis, Distal, Type 5 41
1509 P BRN042 Branchiootic Syndrome 41
1510 c ART120 Arthrogryposis, Distal, Type 3 41
1511 c BRD048 Bardet-Biedl Syndrome 18 41
1512 c HMC010 Hemochromatosis, Type 3 41
1513 c USH007 Usher Syndrome, Type 1c 41
1514 c WRB002 Warburg Micro Syndrome 1 41
1515 c INF087 Inflammatory Bowel Disease 4 41
1516 c LKD010 Leukodystrophy, Hypomyelinating, 2 41
1517 c BRD017 Bardet-Biedl Syndrome 5 41
1518 c BRD018 Bardet-Biedl Syndrome 6 41
1519 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
1520 BRR012 Berardinelli-Seip Congenital Lipodystrophy 41
1521 P DWL001 Dowling-Degos Disease 41
1522 c SPL034 Split-Hand/foot Malformation 4 41
1523 MDN005 Mednik Syndrome 41
1524 CLR096 Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 41
1525 c AMY069 Amyotrophic Lateral Sclerosis 21 41
1526 c DWL002 Dowling-Degos Disease 1 41
1527 c HRD012 Hereditary Elliptocytosis 41
1528 c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 41
1529 3PS001 3p- Syndrome 41
1530 P CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 40
1531 ATS008 Autosomal Dominant Disease 40
1532 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 40
1533 FVS001 Favism 40
1534 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1535 c HMN027 Hemangioma, Capillary Infantile 40
1536 c HMC009 Hemochromatosis Type 2 40
1537 P MYF003 Myofibrillar Myopathy 40
1538 c HLP026 Holoprosencephaly 3 40
1539 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
1540 c RTN143 Retinitis Pigmentosa 47 40
1541 EPL116 Epileptic Encephalopathy, Childhood-Onset 40
1542 HYP540 Hypertension, Diastolic 40
1543 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
1544 c LSS005 Lissencephaly 1 40
1545 c CCK006 Cockayne Syndrome, Type B 40
1546 c LBR019 Leber Congenital Amaurosis 9 40
1547 c HYP559 Hypotrichosis 8 40
1548 c CTR130 Cataract 9, Multiple Types 40
1549 P SDR003 Sideroblastic Anemia 40
1550 P ANT073 Anterior Segment Dysgenesis 1, Multiple Subtypes 40
1551 c PLY139 Polycystic Kidney Disease 3 40
1552 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 40
1553 c HLP029 Holoprosencephaly 4 40
1554 MDY003 Mody, Type Ii 40
1555 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 40
1556 c MCL060 Macular Dystrophy, Vitelliform, 3 40
1557 P BRN006 Branchiootorenal Syndrome 40
1558 c USH012 Usher Syndrome, Type 2c 40
1559 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 40
1560 c BRD032 Bardet-Biedl Syndrome 14 40
1561 c MCL016 Mucolipidosis Iii Gamma 40
1562 c SPN330 Spondylocostal Dysostosis 5 40
1563 RTN175 Retinitis Pigmentosa 7 and Digenic 40
1564 c PLY057 Polydactyly, Postaxial, Types A1 and B 40
1565 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 40
1566 c RTN048 Retinitis Pigmentosa 19 39
1567 c TYP003 Type I Ehlers-Danlos Syndrome 39
1568 MCR103 Microtia 39
1569 P SYN012 Synpolydactyly 39
1570 WNC001 Winchester Syndrome 39
1571 P ART018 Aortic Valve Insufficiency 39
1572 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1573 ATS010 Autosomal Recessive Disease 39
1574 c HYP715 Hypothyroidism, Congenital, Nongoitrous 4 39
1575 TRM011 Terminal Osseous Dysplasia 39
1576 c BRD035 Bardet-Biedl Syndrome 15 39
1577 GLS018 Glass Syndrome 39
1578 c RTN142 Retinitis Pigmentosa 38 39
1579 c VTM007 Vitamin D-Dependent Rickets Type Ii 39
1580 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1581 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 39
1582 c SPN103 Spinocerebellar Ataxia 31 39
1583 P CNG003 Congenital Dyserythropoietic Anemia 39
1584 c 3MT014 3-Methylglutaconic Aciduria, Type V 39
1585 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1586 OCC002 Occult Macular Dystrophy 39
1587 c LRS002 Larsen-Like Syndrome 39
1588 c HYP515 Hypotrichosis 3 39
1589 SPC006 Specific Granule Deficiency 39
1590 P OPT048 Opitz-Gbbb Syndrome 39
1591 c HRM009 Hermansky-Pudlak Syndrome 6 39
1592 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 39
1593 P ANL018 Analbuminemia 39
1594 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
1595 c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 39
1596 P CNG024 Congenital Nystagmus 39
1597 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 39
1598 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1599 c PRM212 Primary Microcephaly 39
1600 c HLP023 Holoprosencephaly 1 38
1601 P MLT072 Multiple Synostoses Syndrome 38
1602 c CTR115 Cataract 16, Multiple Types 38
1603 P UVS001 Uv-Sensitive Syndrome 38
1604 P LTH016 Lethal Congenital Contractural Syndrome 2 38
1605 c AMY083 Amyotrophic Lateral Sclerosis 11 38
1606 c PFF007 Pfeiffer Syndrome Type 1 38
1607 c HMC035 Hemochromatosis, Type 4 38
1608 c RTN177 Retinitis Pigmentosa 73 38
1609 c MCL066 Macular Dystrophy, Vitelliform, 2 38
1610 PLL008 Pallister-Killian Syndrome 38
1611 c USH022 Usher Syndrome, Type 1g 38
1612 SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 38
1613 RCK007 Rickets, Vitamin D-Resistant, Type Iia 38
1614 c RTN136 Retinitis Pigmentosa 44 38
1615 c NNN010 Noonan Syndrome 3 38
1616 P 3MT007 3-Methylglutaconic Aciduria 38
1617 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
1618 c CTR141 Cataract 21, Multiple Types 38
1619 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
1620 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 38
1621 c HYP581 Hypotrichosis 6 38
1622 PLR009 Pol Iii-Related Leukodystrophies 38
1623 P VTM008 Vitamin D-Dependent Rickets, Type I 38
1624 HYP391 Hyperammonemia 38
1625 NTR018 Neutrophilia, Hereditary 38
1626 CLP005 Ciliopathy 38
1627 c SPN097 Spinocerebellar Ataxia 23 38
1628 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 38
1629 P PRK003 Parkes Weber Syndrome 38
1630 c CTR118 Cataract 14, Multiple Types 38
1631 c ART117 Arthrogryposis, Distal, Type 2b 38
1632 P PRT042 Parietal Foramina 38
1633 P PNT019 Pontocerebellar Hypoplasia 38
1634 c CTR098 Cataract 1, Multiple Types 38
1635 FTT003 Fatty Acid Oxidation Disorders 38
1636 c STC015 Stickler Syndrome, Type I 38
1637 c LBR007 Leber Congenital Amaurosis 12 38
1638 c SCP001 Sc Phocomelia Syndrome 38
1639 P VTL001 Vitelliform Macular Dystrophy 38
1640 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 37
1641 CHL050 Cholesterol Ester Storage Disease 37
1642 NRL018 Neural Tube Defects, Folate-Sensitive 37
1643 c CTS008 Cutis Laxa, Autosomal Dominant 37
1644 c USH010 Usher Syndrome, Type 1f 37
1645 ACD009 Acid-Labile Subunit, Deficiency of 37
1646 c SPN094 Spinocerebellar Ataxia 18 37
1647 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 37
1648 c ACT004 Acute Diarrhea 37
1649 P MYS053 Myasthenic Syndrome, Congenital, 14, with Tubular Aggregates 37
1650 DRR008 Diarrhea 1, Secretory Chloride, Congenital 37
1651 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 37
1652 c MCR263 Microphthalmia, Syndromic 1 37
1653 CRB148 Cerebral Creatine Deficiency Syndrome 3 37
1654 CRN046 Corneal Fleck Dystrophy 37
1655 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 37
1656 c NNN012 Noonan Syndrome 5 37
1657 c CNG413 Congenital Short Bowel Syndrome 37
1658 c OPT050 Opitz Gbbb Syndrome, Type Ii 37
1659 c PRD030 Periodontitis 1, Juvenile 37
1660 c INF095 Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 37
1661 P WGN003 Wagner Syndrome 37
1662 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 37
1663 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 37
1664 c HNT004 Huntington Disease-Like 2 37
1665 P JBR003 Joubert Syndrome and Related Disorders 37
1666 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 37
1667 P JVN008 Juvenile Glaucoma 37
1668 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 37
1669 c OVR075 Ovarian Dysgenesis 1 37
1670 c AMY059 Amyotrophic Lateral Sclerosis 19 37
1671 RTC008 Reticulate Acropigmentation of Kitamura 37
1672 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 37
1673 c SPH014 Spherocytosis, Type 2 37
1674 P CHR084 Chromosomal Disease 37
1675 c MYP018 Myopia 6 37
1676 DLY008 Delayed Sleep Phase Disorder 37
1677 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 37
1678 BTR002 Beta-Ureidopropionase Deficiency 37
1679 C6D001 C6 Deficiency 37
1680 c WRB005 Warburg Micro Syndrome 4 36
1681 c LBR013 Leber Congenital Amaurosis 3 36
1682 P CRD132 Cardiac Conduction Defect 36
1683 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1684 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
1685 c MLG132 Malignant Hyperthermia Susceptibility 1 36
1686 MRG013 Mirage Syndrome 36
1687 c AMY088 Amyotrophic Lateral Sclerosis 3 36
1688 c RTN062 Retinitis Pigmentosa 33 36
1689 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1690 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 36
1691 c CHR533 Charcot-Marie-Tooth Disease, Type 1f 36
1692 P DYS005 Dyslexia 36
1693 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1694 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 36
1695 c RTN131 Retinitis Pigmentosa 27 36
1696 c RTN047 Retinitis Pigmentosa 18 36
1697 P PRR025 Perrault Syndrome 36
1698 c PNT029 Pontocerebellar Hypoplasia Type 2d 36
1699 c LBR011 Leber Congenital Amaurosis 16 36
1700 c LBR009 Leber Congenital Amaurosis 14 36
1701 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
1702 P PST059 Pustular Psoriasis 36
1703 c RTN149 Retinitis Pigmentosa 42 36
1704 c RTN165 Retinitis Pigmentosa 68 36
1705 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
1706 c SPR094 Sporadic Pheochromocytoma 36
1707 CRT045 Creatine Phosphokinase, Elevated Serum 36
1708 PRM056 Primrose Syndrome 36
1709 c EPS017 Episodic Ataxia, Type 6 36
1710 CHR340 Chronic Granulomatous Disease, X-Linked 36
1711 c PRX059 Peroxisome Biogenesis Disorder 1a 36
1712 c GLL024 Gallbladder Disease 1 36
1713 c SRC023 Sarcoidosis 2 36
1714 c LBR005 Leber Congenital Amaurosis 10 36
1715 c SCH051 Schizophrenia 4 36
1716 c CRP022 Carpenter Syndrome 2 35
1717 NNK001 Nonaka Myopathy 35
1718 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35
1719 c BRC051 Brachydactyly, Type B1 35
1720 c RTN070 Retinitis Pigmentosa 9 35
1721 PRP056 Porphyria, Acute Hepatic 35
1722 c RTN054 Retinitis Pigmentosa 25 35
1723 c SCL042 Sclerosteosis 2 35
1724 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 35
1725 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 35
1726 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35
1727 c RTN090 Retinitis Pigmentosa 55 35
1728 MYL015 Myeloproliferative Disorder with Eosinophilia 35
1729 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
1730 c CNG216 Congenital Hydrocephalus 35
1731 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 35
1732 P WLL010 Woolly Hair Syndrome 35
1733 VNM003 Van Maldergem Syndrome 1 35
1734 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 35
1735 c RTN041 Retinitis Pigmentosa 11 35
1736 c MYP078 Myopathy, Myofibrillar, 3 35
1737 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 35
1738 P DSB002 Desbuquois Dysplasia 35
1739 c DYS119 Dystonia 9 35
1740 c LBR016 Leber Congenital Amaurosis 6 35
1741 c JBR004 Joubert Syndrome 2 35
1742 c INF089 Inflammatory Bowel Disease 6 35
1743 ATR013 Atrichia with Papular Lesions 35
1744 P SPL061 Split Hand-Foot Malformation 35
1745 c CTR132 Cataract 3, Multiple Types 35
1746 c CTR125 Cataract 7 35
1747 c RTN059 Retinitis Pigmentosa 30 35
1748 CHM006 Chime Syndrome 35
1749 MTH039 Methylmalonic Aciduria, Mut(0) Type 35
1750 OPT054 Opitz-Kaveggia Syndrome 35
1751 c RBN017 Robinow Syndrome, Autosomal Dominant 2 35
1752 c RTN150 Retinitis Pigmentosa 10 35
1753 c CTR145 Cataract 44 35
1754 RGR002 Rieger Syndrome, Type 2 35
1755 c BRD045 Bardet-Biedl Syndrome 19 35
1756 c ATR022 Atrial Septal Defect 3 35
1757 c ATR031 Atrial Septal Defect 4 35
1758 VNW006 Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 35
1759 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 35
1760 C5D001 C5 Deficiency 34
1761 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 34
1762 P MCR241 Microphthalmia, Syndromic 3 34
1763 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34
1764 c RTN083 Retinitis Pigmentosa-40 34
1765 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 34
1766 c BRD047 Bardet-Biedl Syndrome 16 34
1767 c RTN056 Retinitis Pigmentosa 28 34
1768 c ART061 Arthrogryposis, Distal, Type 2a 34
1769 c RTS003 Ritscher-Schinzel Syndrome 1 34
1770 c RTN046 Retinitis Pigmentosa 17 34
1771 c RTN088 Retinitis Pigmentosa-50 34
1772 c AML017 Amelogenesis Imperfecta, Type Ib 34
1773 c CTR095 Cataract 8, Multiple Types 34
1774 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 34
1775 SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34
1776 FMR011 Fumarate Hydratase Deficiency 34
1777 SGW003 Segawa Syndrome, Recessive 34
1778 SRC016 Sarcoglycanopathies 34
1779 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
1780 c HRM007 Hermansky-Pudlak Syndrome 4 34
1781 c RTN044 Retinitis Pigmentosa 14 34
1782 c MYP079 Myopathy, Myofibrillar, 5 34
1783 c RTN152 Retinitis Pigmentosa 66 34
1784 c MCP036 Mucopolysaccharidosis Ih/s 34
1785 MNC019 Monocarboxylate Transporter 1 Deficiency 34
1786 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
1787 c AMY062 Amyotrophic Lateral Sclerosis 12 34
1788 P ARC016 Auriculocondylar Syndrome 1 34
1789 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 34
1790 P XLN007 X-Linked Disease 34
1791 c TRC078 Trichohepatoenteric Syndrome 2 34
1792 HML006 Hemolytic Anemia Due to G6pd Deficiency 34
1793 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34
1794 c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34
1795 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
1796 OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 34
1797 c CLD010 Cold-Induced Sweating Syndrome 1 34
1798 c AML020 Amelogenesis Imperfecta, Type Iv 34
1799 PHS018 Phosphorylase Kinase Deficiency 34
1800 P LSS024 Lissencephaly with Cerebellar Hypoplasia 34
1801 P MYS032 Myosin Storage Myopathy 34
1802 P HYP348 Hyperglycinuria 34
1803 P ANX007 Anauxetic Dysplasia 1 34
1804 MDY005 Mody, Type I 34
1805 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
1806 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
1807 MND025 Mandibulofacial Dysostosis with Alopecia 34
1808 c SPN299 Spinocerebellar Ataxia 20 34
1809 PRX075 Proximal Myopathy and Ophthalmoplegia 33
1810 CHN065 Choanal Atresia, Posterior 33
1811 c MCP015 Mucopolysaccharidosis Type Ix 33
1812 c DSB006 Desbuquois Dysplasia 1 33
1813 c ATS076 Autosomal Recessive Stickler Syndrome 33
1814 c LBR018 Leber Congenital Amaurosis 8 33
1815 c RTN116 Retinitis Pigmentosa 56 33
1816 c ACH023 Achromatopsia 4 33
1817 c PNT010 Pontocerebellar Hypoplasia Type 1 33
1818 c CHR402 Charcot-Marie-Tooth Disease, Type 2a1 33
1819 c ALB019 Albinism, Oculocutaneous, Type Iv 33
1820 c RTN147 Retinitis Pigmentosa 48 33
1821 c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 33
1822 P OVR076 Ovarian Dysgenesis 2 33
1823 HYP110 Hyperproinsulinemia 33
1824 P HYP111 Hyperprolinemia 33
1825 c NNN011 Noonan Syndrome 4 33
1826 c INF092 Inflammatory Bowel Disease 9 33
1827 c CTR103 Cataract 4, Multiple Types 33
1828 C4B001 C4b Deficiency 33
1829 c STC013 Stickler Syndrome, Type Ii 33
1830 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 33
1831 GLY032 Glycosylphosphatidylinositol Deficiency 33
1832 MDY006 Mody, Type Iv 33
1833 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33
1834 c SPN105 Spinocerebellar Ataxia 4 33
1835 HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33
1836 CHN056 Chondrosarcoma, Extraskeletal Myxoid 33
1837 c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33
1838