Genetic Diseases Category (8972 diseases)


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

# Family MCID Name MIFTS
1 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 67
2 P HRD207 Hereditary Transthyretin Amyloidosis 32
3 c BNG006 Benign Familial Neonatal Epilepsy 53
4 P NNT056 Neonatal Epilepsy Syndrome 5
5 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
6 P MTR080 Mitral Valve Prolapse 1 34
7 c MTR077 Mitral Valve Prolapse 2 26
8 c MTR083 Mitral Valve Prolapse 3 21
9 c PRM012 Primary Polycythemia 57
10 P PLY018 Polycythemia 55
11 c PRG126 Progressive Familial Heart Block 53
12 c FML363 Familial Adult Myoclonic Epilepsy 44
13 c ACQ010 Acquired Polycythemia 43
14 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 33
15 c ATS209 Autosomal Dominant Secondary Polycythemia 23
16 c CNG266 Congenital Secondary Polycythemia 9
17 c ACQ028 Acquired Secondary Polycythemia 9
18 c PLY005 Polycythemia Due to Hypoxia 6
19 P CRD132 Cardiac Conduction Defect 61
20 c PRG047 Progressive Familial Intrahepatic Cholestasis 58
21 c CRB051 Cerebral Cavernous Malformation, Familial 38
22 c FML250 Familial Progressive Cardiac Conduction Defect 29
23 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 13
24 P EPL164 Epilepsy 71
25 P BNG026 Benign Neonatal Seizures 51
26 c BNG023 Benign Familial Infantile Epilepsy 49
27 c INF185 Infantile Epilepsy Syndrome 32
28 c ATM114 Autoimmune Epilepsy 29
29 c RRP028 Rare Epilepsy 16
30 c KCN020 Kcnt1-Related Epilepsy 14
31 c DPD002 Depdc5-Related Epilepsy 13
32 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 5
33 c INF176 Infectious Disease with Epilepsy 4
34 c FBR074 Febrile Seizures, Familial, 6 29
35 CNV009 Convulsions Benign Familial Neonatal Dominant Form 27
36 c FBR071 Febrile Seizures, Familial, 5 27
37 c FBR068 Febrile Seizures, Familial, 10 19
38 P NTR004 Neutropenia 61
39 c SVR003 Severe Congenital Neutropenia 58
40 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
41 c SVR107 Severe Congenital Neutropenia 3 44
42 c SVR110 Severe Congenital Neutropenia 4 39
43 c SVR106 Severe Congenital Neutropenia 5 37
44 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
45 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
46 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 33
47 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
48 c SVR104 Severe Congenital Neutropenia 7 31
49 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
50 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
51 c SVR109 Severe Congenital Neutropenia 8 28
52 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
53 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 26
54 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
55 c SVR108 Severe Congenital Neutropenia 6 25
56 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
57 c NTR045 Neutropenia, Chronic Familial 22
58 c SVR103 Severe Congenital Neutropenia 1 20
59 SYN062 Syncope, Familial Vasovagal 19
60 c ACQ053 Acquired Neutropenia 17
61 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
62 c SVR105 Severe Congenital Neutropenia 2 16
63 c ELN001 Elane-Related Neutropenia 13
64 c FML001 Familial Atrial Fibrillation 67
65 P FRT001 Fourth Cranial Nerve Palsy 31
66 JNT001 Joint Laxity, Familial 26
67 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 17
68 P FBR031 Febrile Seizures 52
69 P ATT003 Attenuated Familial Adenomatous Polyposis 43
70 c FBR073 Febrile Seizures, Familial, 1 32
71 DRM050 Dermographism, Familial 29
72 c FBR067 Febrile Seizures, Familial, 9 26
73 c FML309 Familial Infantile Bilateral Striatal Necrosis 23
74 c FBR076 Febrile Seizures, Familial, 7 22
75 c SZR011 Seizures, Benign Familial Infantile, 4 12
76 c PRM005 Primary Hyperparathyroidism 58
77 P FML023 Familial Hemiplegic Migraine 54
78 P PRD021 Periodic Paralysis 43
79 FML307 Familial Calcium Pyrophosphate Deposition 40
80 P FML156 Familial Hyperaldosteronism 30
81 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 25
82 CPP001 Copper Deficiency, Familial Benign 20
83 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 18
84 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
85 P FML052 Familial Cold Autoinflammatory Syndrome 55
86 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 52
87 P PRN026 Porencephaly 49
88 P VRT013 Vertigo, Benign Recurrent 48
89 c FML084 Familial Porencephaly 30
90 P FML313 Familial Progressive Hyperpigmentation 19
91 c VRT008 Vertigo, Benign Recurrent, 2 10
92 c ACQ029 Acquired Porencephaly 9
93 c ART138 Aortic Aneurysm, Familial Abdominal, 1 63
94 c LPM012 Lipomatosis, Multiple 60
95 P CND004 Candidiasis 58
96 P LPM005 Lipomatosis 46
97 c FML350 Familial Febrile Seizures 32
98 THY106 Thyroglossal Duct Cyst, Familial 29
99 c CND033 Candidiasis, Familial, 1 28
100 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
101 FML206 Familial Cerebral Saccular Aneurysm 25
102 c FML348 Familial Pityriasis Rubra Pilaris 24
103 LNT008 Lentiginosis, Inherited Patterned 22
104 GGN006 Gigantiform Cementoma, Familial 21
105 c FML334 Familial Candidiasis 17
106 c FCL065 Facial Palsy, Familial Recurrent Peripheral 16
107 DWR023 Dwarfism, Familial, with Muscle Spasms 14
108 c FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
109 SYN087 Synovial Chondromatosis, Familial, with Dwarfism 12
110 GNV002 Genu Valgum, St. Helena Familial 12
111 P RCR003 Recurrent Peripheral Facial Palsy 9
112 P ACT271 Acute Myeloid Leukemia with Mutated Cebpa 8
113 P PRP003 Porphyria Cutanea Tarda 68
114 P AMY004 Amyloidosis 66
115 P HYP097 Hyperekplexia 61
116 LPM010 Lipomatosis, Multiple Symmetric 45
117 P INT260 Intracranial Berry Aneurysm 42
118 c HRD039 Hereditary Amyloidosis 42
119 LRY047 Laryngeal Abductor Paralysis 33
120 c FML324 Familial Porphyria Cutanea Tarda 32
121 c PRP091 Porphyria Cutanea Tarda, Type I 32
122 DCR010 Dicer1 Tumor Predisposition 23
123 CLL041 Collagenoma, Familial Cutaneous 23
124 CRN069 Corneal Hypesthesia, Familial 20
125 MCR031 Macrocephaly, Benign Familial 19
126 c PRM150 Primary Localized Amyloidosis 18
127 c ART152 Aortic Aneurysm, Familial Abdominal, 3 15
128 c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 12
129 OSS006 Ossicular Malformations, Familial 11
130 CBP001 Cebpa-Associated Familial Acute Myeloid Leukemia 10
131 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 7
132 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
133 FML088 Familial Streblodactyly 6
134 P ANT006 Antiphospholipid Syndrome 55
135 P HYP076 Hyperthyroidism 53
136 STT041 Stuttering 53
137 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 47
138 P HYP078 Hypertrophy of Breast 47
139 c FML053 Familial Colorectal Cancer 45
140 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 41
141 c CLR077 Colorectal Cancer 10 34
142 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 34
143 c CLR087 Colorectal Cancer 12 34
144 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 33
145 c CLR085 Colorectal Cancer 1 33
146 c CLR075 Colorectal Cancer 3 31
147 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 27
148 HYP197 Hypofibrinogenemia, Familial 26
149 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 25
150 PTL010 Patella Aplasia-Hypoplasia 24
151 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 23
152 ESN023 Eosinophilia, Familial 23
153 c ANT041 Antiphospholipid Syndrome, Familial 21
154 c CLR079 Colorectal Cancer 2 21
155 c CLR080 Colorectal Cancer 5 20
156 c HYP678 Hypertrophy of the Breast, Juvenile 20
157 c CLR083 Colorectal Cancer 8 19
158 c CLR082 Colorectal Cancer 7 18
159 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 17
160 c CLR081 Colorectal Cancer 6 17
161 c CLR078 Colorectal Cancer 11 16
162 c CLR084 Colorectal Cancer 9 16
163 c RRH008 Rare Hyperthyroidism 8
164 P APL001 Aplastic Anemia 74
165 P VSC005 Vesicoureteral Reflux 50
166 P THY061 Thyroid Dyshormonogenesis 2a 46
167 P FML361 Familial Woolly Hair Syndrome 44
168 c FML297 Familial Thyroid Dyshormonogenesis 44
169 c THY071 Thyroid Dyshormonogenesis 1 36
170 c THY063 Thyroid Dyshormonogenesis 4 36
171 c THY056 Thyroid Dyshormonogenesis 3 35
172 c THY110 Thyroid Dyshormonogenesis 6 35
173 P HYP120 Hypoaldosteronism 35
174 c WLL018 Woolly Hair, Autosomal Dominant 31
175 NPP006 Nipples, Supernumerary 31
176 c VSC019 Vesicoureteral Reflux 1 30
177 ACT256 Actg2 Visceral Myopathy 26
178 c THY062 Thyroid Dyshormonogenesis 5 26
179 c VSC025 Vesicoureteral Reflux 3 25
180 c VSC020 Vesicoureteral Reflux 2 25
181 c WLL035 Woolly Hair, Autosomal Recessive 3 25
182 CLL039 Collagenosis, Familial Reactive Perforating 24
183 P FML367 Familial Hypercholanemia 24
184 c VSC046 Vesicoureteral Reflux 8 22
185 CRR016 Cirrhosis, Familial 22
186 FML325 Familial Cervical Artery Dissection 21
187 ANG063 Angiolipomatosis, Familial 19
188 c CNG619 Congenital Aplastic Anemia 19
189 c FML284 Familial Vesicoureteral Reflux 19
190 FML369 Familial Apolipoprotein Gene Cluster Deletion Syndrome 17
191 VST008 Vestibulocochlear Dysfunction, Progressive 15
192 c ERL059 Early-Onset Familial Hypoaldosteronism 14
193 c LTN026 Late-Onset Familial Hypoaldosteronism 14
194 c VSC043 Vesicoureteral Reflux 6 13
195 c VSC042 Vesicoureteral Reflux 5 12
196 FML159 Familial Periodic Paralyses 12
197 c VSC041 Vesicoureteral Reflux 7 11
198 c VSC040 Vesicoureteral Reflux 4 11
199 FML329 Familial Caudal Dysgenesis 11
200 c RRC002 Rare Acquired Aplastic Anemia 5
201 c RRH005 Rare Hypoaldosteronism 4
202 c MGR028 Migraine with or Without Aura 1 67
203 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
204 P HYP040 Hypospadias 55
205 P KRT005 Keratoacanthoma 52
206 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
207 P ERY036 Erythema Nodosum 50
208 P MGR001 Migraine Without Aura 48
209 P PSD003 Pseudohypoaldosteronism 46
210 PRP007 Priapism 46
211 CYC008 Cyclic Vomiting Syndrome 42
212 P PLM182 Pulmonary Hypoplasia, Primary 41
213 P FML340 Familial Episodic Pain Syndrome 39
214 KLN009 Kleine-Levin Hibernation Syndrome 38
215 c PSD080 Pseudohypoaldosteronism Type 1 36
216 c ALZ057 Alzheimer Disease 10 35
217 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 34
218 CFL005 Cafe-Au-Lait Spots, Multiple 33
219 c PSD090 Pseudohypoaldosteronism, Type Iia 32
220 ATY012 Atypical Mycobacteriosis, Familial 31
221 c ALZ012 Alzheimer Disease 12 29
222 c PSD068 Pseudohypoaldosteronism, Type Iic 27
223 c FML272 Familial Sick Sinus Syndrome 27
224 c PSD094 Pseudohypoaldosteronism, Type Iib 26
225 P HYD015 Hydroa Vacciniforme 26
226 c ALZ016 Alzheimer Disease 8 26
227 RHZ008 Rhizomelic Syndrome 24
228 c FML223 Familial Keratoacanthoma 24
229 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23
230 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23
231 c ALZ053 Alzheimer Disease 7 23
232 c TRN053 Transient Pseudohypoaldosteronism 22
233 GNT044 Genetic Atypical Hemolytic-Uremic Syndrome 22
234 P CMP101 Complex Hereditary Spastic Paraplegia 22
235 c MGR036 Migraine with or Without Aura 2 21
236 c ART068 Aortic Aneurysm, Familial Thoracic 2 21
237 FBR089 Fibrosclerosis, Multifocal 19
238 P PRH002 Pure Hereditary Spastic Paraplegia 18
239 HRS037 Hirschsprung Disease with Type D Brachydactyly 18
240 c MGR042 Migraine with or Without Aura 13 18
241 c MGR023 Migraine Without Aura 4 18
242 c MGR022 Migraine with or Without Aura 3 18
243 c MGR024 Migraine with or Without Aura 5 17
244 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 17
245 c CND027 Candidiasis, Familial, 3 16
246 FML079 Familial Nasal Acilia 16
247 c MGR040 Migraine with or Without Aura 12 16
248 c MGR038 Migraine with or Without Aura 10 15
249 c MGR037 Migraine with or Without Aura 8 15
250 c MGR039 Migraine with or Without Aura 11 15
251 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
252 CMD004 Comedones, Familial Dyskeratotic 14
253 c HYP545 Hypospadias 3, Autosomal 14
254 CMP022 Camptodactyly Taurinuria 14
255 c ERY057 Erythema Nodosum, Familial 14
256 c ATS470 Autosomal Dominant Pure Spastic Paraplegia 14
257 c ATS154 Autosomal Recessive Complex Spastic Paraplegia 14
258 c ART151 Aortic Aneurysm, Familial Abdominal, 2 13
259 EPL014 Epilepsy, Partial, Familial 13
260 c PLM183 Pulmonary Hypoplasia, Familial Primary 13
261 HYP746 Hypersecretion of Adrenal Androgens, Familial 12
262 c SZR025 Seizures, Benign Familial Neonatal, 3 12
263 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
264 c HYD016 Hydroa Vacciniforme, Familial 12
265 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
266 NGY001 Nguyen Syndrome 10
267 P PRR040 Pure or Complex Hereditary Spastic Paraplegia 10
268 c PRR042 Pure or Complex Autosomal Recessive Spastic Paraplegia 9
269 c ATS471 Autosomal Dominant Complex Spastic Paraplegia 8
270 UMB003 Umbilicus, Familial Flat 8
271 c ATS153 Autosomal Recessive Pure Spastic Paraplegia 7
272 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 7
273 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 6
274 c PRR041 Pure or Complex Autosomal Dominant Spastic Paraplegia 4
275 RGH002 Right Atrium Familial Dilatation 4
276 FML082 Familial Partial Paralysis 2
277 P FML362 Familial Isolated Hypoparathyroidism 39
278 ANR043 Aniridia and Absent Patella 19
279 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 18
280 P THY023 Thymoma 65
281 P SHR029 Short Syndrome 63
282 P LNG028 Long Qt Syndrome 63
283 c ESS001 Essential Tremor 55
284 c CNT075 Central Precocious Puberty 52
285 CRY008 Cryopyrin-Associated Periodic Syndrome 48
286 P ACQ022 Acquired Generalized Lipodystrophy 46
287 P PRC019 Precocious Puberty 46
288 c SHR030 Short Qt Syndrome 44
289 CNG064 Congenital Chloride Diarrhea 34
290 c PRC046 Precocious Puberty, Central, 2 33
291 MYH016 Myh-Associated Polyposis 33
292 FML258 Familial Acute Necrotizing Encephalopathy 31
293 c PRC047 Precocious Puberty, Central, 1 30
294 c THY107 Thymoma, Familial 30
295 c SHR032 Short Qt Syndrome 2 30
296 c SHR033 Short Qt Syndrome 3 29
297 c FML306 Familial or Sporadic Hemiplegic Migraine 29
298 c INV003 Invasive Malignant Thymoma 29
299 FLR003 Florid Cemento-Osseous Dysplasia 28
300 c SHR031 Short Qt Syndrome 1 27
301 c TYP010 Type C Thymoma 23
302 GLC053 Glucocorticoid Deficiency 3 21
303 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 20
304 UPN001 Upington Disease 19
305 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 19
306 c AKT001 Akt2-Related Familial Partial Lipodystrophy 16
307 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
308 c FML275 Familial Hypoaldosteronism 15
309 c TRC094 Trichoepithelioma, Multiple Familial, 2 15
310 c HYP842 Hyperlipidemia, Familial Combined, 2 14
311 c THY085 Thymoma Type a 14
312 P LTN003 Late-Onset Familial Alzheimer Disease 14
313 c THY087 Thymoma Type Ab 13
314 c XNC002 X Inactivation, Familial Skewed, 2 11
315 FML202 Familial Alzheimer-Like Prion Disease 11
316 c SCN039 Secondary Central Precocious Puberty 10
317 FML336 Familial Patent Arterial Duct 10
318 c THY086 Thymoma Type B 9
319 BNG066 Benign Familial Mesial Temporal Lobe Epilepsy 8
320 c RRP025 Rare Precocious Puberty 7
321 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 7
322 c MLG040 Malignant Type Ab Thymoma 6
323 c MLG034 Malignant Type a Thymoma 6
324 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 6
325 FML216 Familial Isolated Clinodactyly of Fingers 4
326 FML200 Familial Omphalocele Syndrome with Facial Dysmorphism 4
327 P RTN024 Retinoblastoma 75
328 c WLM013 Wilms Tumor 1 68
329 c WLM018 Wilms Tumor 5 66
330 P TTH002 Tooth Agenesis 63
331 P HYP069 Hyperparathyroidism 63
332 c CHL140 Chilblain Lupus 1 56
333 P LCH002 Lichen Planus 54
334 P CHN059 Chondrocalcinosis 52
335 HMZ003 Homozygous Familial Hypercholesterolemia 52
336 P OVR049 Ovarian Disease 52
337 c FML008 Familial Retinoblastoma 50
338 c SCN007 Secondary Hyperparathyroidism 50
339 P OTS001 Otosclerosis 50
340 P ACT008 Actinic Keratosis 49
341 c FML191 Familial Long Qt Syndrome 48
342 c HYP243 Hyperparathyroidism 1 46
343 P RNL017 Renal Oncocytoma 45
344 P OBS001 Obstructive Jaundice 43
345 P HMF004 Hemifacial Spasm 42
346 DFF021 Diffuse Mesangial Sclerosis 41
347 c FML294 Familial Short Qt Syndrome 40
348 P CLS010 Cluster Headache 39
349 c ALZ058 Alzheimer Disease 11 37
350 CNS013 Constricting Bands, Congenital 37
351 TRN030 Transient Erythroblastopenia of Childhood 35
352 NND010 Nondisjunction 33
353 CRT064 Corticosterone Methyloxidase Deficiency 31
354 c FML355 Familial Intrahepatic Cholestasis 31
355 c MNS014 Monosomy 22 30
356 P GLM006 Glomangioma 30
357 MYL057 Myelopathy, Htlv-1-Associated 29
358 P HRD009 Hereditary Wilms' Tumor 29
359 c SPS091 Spastic Paraplegia 4 29
360 LPM007 Lipomyelomeningocele 27
361 c WLM011 Wilms Tumor 6 27
362 c HYP720 Hyperparathyroidism 4 27
363 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 26
364 P FML337 Familial Chilblain Lupus 26
365 GNS004 Geniospasm 1 26
366 c OTS005 Otosclerosis 1 26
367 c WLM005 Wilms Tumor 2 26
368 SPN354 Spinal Arachnoiditis 25
369 BRR012 Berardinelli-Seip Congenital Lipodystrophy 25
370 LRY046 Laryngeal Web, Familial 25
371 c INH032 Inherited Human Prion Disease 25
372 DRM041 Dermoid Cysts, Familial Frontonasal 25
373 c FML025 Familial Glomangioma 25
374 c MNS008 Monosomy 21 24
375 ZNC006 Zinc, Elevated Plasma 24
376 c CHL114 Chilblain Lupus 2 23
377 PLY135 Polydactyly, Postaxial, with Progressive Myopia 23
378 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 22
379 ACH015 Achalasia, Familial Esophageal 22
380 c MNS011 Monosomy 9q22.3 22
381 c SCN048 Secondary Syringomyelia 22
382 c ATR026 Atrial Fibrillation, Familial, 1 22
383 P CNG070 Congenital Dislocation of the Patella 21
384 c HRD198 Hereditary Dystonia 21
385 c WLM017 Wilms Tumor 4 21
386 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
387 RTN078 Retinoschisis of Fovea 19
388 c WLM015 Wilms Tumor 3 19
389 c MGR033 Migraine with or Without Aura 6 19
390 P ATS469 Autosomal Monosomy 19
391 c FML028 Familial Renal Oncocytoma 19
392 HND005 Hand and Foot Deformity with Flat Facies 18
393 c HYP311 Hyperparathyroidism 3 18
394 FLT007 Flotch Syndrome 18
395 c OTS007 Otosclerosis 3 17
396 P CRY006 Cryofibrinogenemia 17
397 PLM045 Palmer Pagon Syndrome 17
398 P ALK019 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 17
399 WHT022 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrom 17
400 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 17
401 c PRM355 Primary Ovarian Insufficiency 6 16
402 MND005 Mondini Dysplasia 16
403 c OTS009 Otosclerosis 5 16
404 c OTS010 Otosclerosis 7 16
405 c OTS012 Otosclerosis 10 16
406 c OTS011 Otosclerosis 8 16
407 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 15
408 c FML094 Familial Wilms Tumor 2 15
409 c OTS006 Otosclerosis 2 15
410 SPS047 Spastic Paraplegia with Precocious Puberty 15
411 FML224 Familial Idiopathic Dilatation of the Right Atrium 15
412 c CLS053 Cluster Headache, Familial 15
413 c OTS008 Otosclerosis 4 14
414 c ATR027 Atrial Fibrillation, Familial, 5 14
415 c FML255 Familial Syringomyelia 13
416 c ATR025 Atrial Fibrillation, Familial, 2 13
417 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
418 IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 13
419 CHR648 Chorea, Remitting, with Nystagmus and Cataract 13
420 c RRL001 Rare Lichen Planus 12
421 FCT027 Factors Viii, Ix and Xi, Combined Deficiency of 12
422 P CHR636 Chorea, Benign Familial 12
423 c LCH017 Lichen Planus, Familial 12
424 ART142 Arteritis, Familial Granulomatous, with Juvenile Polyarthritis 12
425 P FML305 Familial Abdominal Aortic Aneurysm 12
426 c PRM168 Primary Syringomyelia 12
427 c HMF011 Hemifacial Spasm, Familial 12
428 c ATR028 Atrial Fibrillation, Familial, 8 11
429 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 11
430 FCT025 Factor Vii and Factor Viii, Combined Deficiency of 11
431 MNG008 Monogenic Disease with Epilepsy 11
432 OPH016 Ophthalmoplegia, Familial Static 11
433 TTR009 Tetralogy of Fallot and Glaucoma 11
434 P CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 11
435 P FML050 Familial Bilateral Striatal Necrosis 11
436 LMB070 Lumbar Stenosis, Familial 11
437 c APB002 Apob-Related Familial Hypobetalipoproteinemia 11
438 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
439 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 10
440 FCT026 Factor Viii and Factor Ix, Combined Deficiency of 10
441 c PTL011 Patella, Familial Recurrent Dislocation of 10
442 CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 10
443 c CRY033 Cryofibrinogenemia, Familial Primary 10
444 c ACQ069 Acquired Human Prion Disease 10
445 CRD227 Cardiac Lipidosis, Familial 10
446 CHR631 Choreoathetosis, Familial Inverted 10
447 ALZ052 Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology 10
448 CNC019 Cancer, Familial, with in Vitro Radioresistance 10
449 c SPR154 Sporadic Human Prion Disease 10
450 EDM003 Edema, Familial Idiopathic, Prepubertal 10
451 c NNS127 Nonsyndromic Tooth Agenesis 9
452 FCT028 Factor Ix and Factor Xi, Combined Deficiency of 9
453 MLN068 Melanoma, Malignant Familial Intraocular 9
454 c FML317 Familial Monosomy 7 Syndrome 9
455 P STT039 Stuttering, Familial Persistent, 4 9
456 HST021 Histiocytosis, Familial Lipochrome 9
457 OPH017 Ophthalmoplegia, Familial Total, with Iris Transillumination 9
458 APF001 Aip Familial Isolated Pituitary Adenomas 9
459 ALP096 Alopecia, Familial Focal 9
460 MSC143 Muscle Cramps, Familial 9
461 STT047 Setting-Sun Phenomenon, Familial Benign 9
462 c KRT070 Keratosis, Familial Actinic 8
463 c STT036 Stuttering, Familial Persistent, 3 8
464 MCR339 Macrocytosis, Familial 8
465 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 8
466 PCH021 Pachydermodactyly, Familial 8
467 AZT005 Azotemia, Familial 8
468 FML352 Familial Scaphocephaly Syndrome 7
469 c ALK020 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 7
470 NSL026 Nasal Hyperpigmentation, Familial Transverse 7
471 STR098 Striae Distensae, Familial 7
472 c JND003 Jaundice, Familial Obstructive, of Infancy 7
473 PRP095 Priapism, Familial Idiopathic 7
474 NSL025 Nasal Groove, Familial Transverse 7
475 BND019 Bundle Branch Block, Familial Isolated Complete Right 7
476 BLN022 Blue Nevi, Familial Multiple 7
477 URT053 Urticaria, Familial Localized Heat 7
478 FVR001 Fever, Familial Lifelong Persistent 7
479 BNG060 Benign Non-Familial Infantile Seizures 7
480 CRM011 Cramps, Familial Adolescent 7
481 BRD052 Broad Terminal Phalanges, Familial 7
482 LGL002 Leg Ulcers, Familial, of Juvenile Onset 7
483 CRY034 Cryptotia, Familial 6
484 INS028 Insulin Receptors, Familial Increase in 6
485 c TTL014 Total Autosomal Monosomy 6
486 c ALK022 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 6
487 c ALK021 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 6
488 c RRH011 Rare Hyperparathyroidism 5
489 BRC118 Brachial Palsy, Familial Congenital 5
490 FML051 Familial Capillaro-Venous Leptomeningeal Angiomatosis 5
491 c PRM366 Primary Ovarian Insufficiency 17 5
492 c PRM362 Primary Ovarian Insufficiency 13 5
493 c PRM358 Primary Ovarian Insufficiency 9 5
494 FRC004 Fara Chlupackova Syndrome 5
495 c OTS004 Otosclerosis, Familial 5
496 c PRM351 Primary Ovarian Insufficiency 2b 4
497 c PRM354 Primary Ovarian Insufficiency 5 4
498 c PRM352 Primary Ovarian Insufficiency 3 4
499 c PRM356 Primary Ovarian Insufficiency 7 4
500 c PRM361 Primary Ovarian Insufficiency 12 4
501 LSS038 Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia 4
502 c PRM357 Primary Ovarian Insufficiency 8 4
503 c PRM353 Primary Ovarian Insufficiency 4 4
504 c PRM359 Primary Ovarian Insufficiency 10 4
505 c PRM363 Primary Ovarian Insufficiency 14 4
506 c PRM364 Primary Ovarian Insufficiency 15 4
507 c PRM350 Primary Ovarian Insufficiency 2a 4
508 c PRM365 Primary Ovarian Insufficiency 16 4
509 c OVR071 Ovarian Insufficiency, Familial 4
510 c PRM360 Primary Ovarian Insufficiency 11 4
511 c FML049 Familial Band Heterotopia 4
512 FML349 Familial Creutzfeld-Jakob Disease 4
513 RRG028 Rare Genetic Disease with Myoclonus As a Major Feature 3
514 IDP089 Idiopathic or Cryptogenic Familial Epilepsy Syndrome with Identified Loci/genes 3
515 NNF004 Non-Familial Hypertrophic Cardiomyopathy 3
516 PLM055 Pulmonary Artery Familial Dilatation 2
517 c FML226 Familial Dupuytren Contracture 2
518 HYP153 Hypergonadotropic Ovarian Failure, Familial or Sporadic 1
519 DST014 Distal Primary Acidosis, Familial 1
520 P BRS047 Breast Cancer 97
521 c AMY091 Amyotrophic Lateral Sclerosis 1 87
522 c ALZ065 Alzheimer Disease, Familial, 1 87
523 c HYP595 Hypertension, Essential 86
524 ESP021 Esophageal Cancer 83
525 P PRK057 Parkinson Disease, Late-Onset 81
526 c FNC027 Fanconi Anemia, Complementation Group a 80
527 P HRT032 Heart Disease 80
528 P RHM011 Rheumatoid Arthritis 80
529 c TYP008 Type 1 Diabetes Mellitus 79
530 P RTT002 Rett Syndrome 78
531 GST019 Gastrointestinal Stromal Tumor 78
532 CYS001 Cystic Fibrosis 78
533 NRL016 Neural Tube Defects 77
534 c PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 77
535 P AST005 Asthma 76
536 P ATS364 Autism 74
537 P DMN001 Diamond-Blackfan Anemia 74
538 c LKM063 Leukemia, Chronic Myeloid 73
539 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
540 P CRN300 Coronary Heart Disease 1 72
541 P SRC025 Sarcoidosis 1 71
542 EWN003 Ewing Sarcoma 71
543 c ATS007 Autism Spectrum Disorder 70
544 SVR097 Severe Cutaneous Adverse Reaction 70
545 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
546 SMT004 Smith-Lemli-Opitz Syndrome 69
547 P BRG001 Brugada Syndrome 69
548 CHD001 Chediak-Higashi Syndrome 69
549 c FNC043 Fanconi Anemia, Complementation Group E 68
550 P INF038 Influenza 68
551 P TBR001 Tuberous Sclerosis 68
552 CRT072 Creutzfeldt-Jakob Disease 68
553 P MYC007 Myocardial Infarction 68
554 LPP008 Lipoprotein Quantitative Trait Locus 67
555 P BRD002 Bardet-Biedl Syndrome 67
556 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
557 c MCP001 Mucopolysaccharidosis Iii 67
558 P CHR012 Chronic Granulomatous Disease 67
559 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 66
560 ALL003 Allergic Rhinitis 66
561 c HRD002 Hereditary Angioedema 66
562 P HLP001 Holoprosencephaly 66
563 FCT007 Factor Vii Deficiency 66
564 c DPH024 Diaphragmatic Hernia, Congenital 66
565 P CRN037 Craniosynostosis 66
566 P DYS154 Dystonia 66
567 ACH004 Achondroplasia 66
568 c JVN010 Juvenile Rheumatoid Arthritis 66
569 P CRN015 Cornelia De Lange Syndrome 66
570 P PLZ001 Pelizaeus-Merzbacher Disease 65
571 CRZ001 Crouzon Syndrome 65
572 P AGM001 Agammaglobulinemia 65
573 P LYS001 Loeys-Dietz Syndrome 65
574 MTC027 Mitochondrial Trifunctional Protein Deficiency 65
575 RFS006 Refsum Disease, Classic 64
576 c GLY007 Glycogen Storage Disease Iv 64
577 P ZLL001 Zellweger Syndrome 64
578 P EHL001 Ehlers-Danlos Syndrome 64
579 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
580 MYC079 Myoclonic Epilepsy of Lafora 64
581 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 64
582 c TBR026 Tuberous Sclerosis 2 63
583 P NRF002 Neurofibromatosis 63
584 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
585 ART001 Arterial Tortuosity Syndrome 63
586 P HYD006 Hydrocephalus 63
587 P ACR001 Aicardi-Goutieres Syndrome 63
588 PHL006 Phelan-Mcdermid Syndrome 63
589 LKN001 Leukoencephalopathy with Vanishing White Matter 62
590 NRR002 Norrie Disease 62
591 CHY002 Chylomicron Retention Disease 62
592 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
593 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 61
594 P EPL140 Epilepsy, Idiopathic Generalized 61
595 c DVL030 Developmental and Epileptic Encephalopathy 36 61
596 c FRS014 Fraser Syndrome 1 61
597 P NRN021 Neuronal Ceroid Lipofuscinosis 61
598 SCR020 Sacral Defect with Anterior Meningocele 61
599 ALP097 Alopecia Universalis Congenita 60
600 P EXD001 Exudative Vitreoretinopathy 60
601 DBF001 D-Bifunctional Protein Deficiency 60
602 P CHL002 Childhood Absence Epilepsy 60
603 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 60
604 c ACT075 Acute Myocardial Infarction 59
605 ARG007 Argininemia 59
606 CFF002 Coffin-Lowry Syndrome 59
607 P MCR010 Microcephaly 59
608 P BRN022 Bronchiectasis 59
609 c WLF013 Wolfram Syndrome 1 59
610 P MYM013 Moyamoya Disease 1 59
611 P PRG013 Paraganglioma 59
612 c PRM196 Premature Ovarian Failure 1 59
613 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
614 c ANG070 Angioedema, Hereditary, 1 59
615 P LYM033 Lymphoproliferative Syndrome 58
616 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
617 c FNC042 Fanconi Anemia, Complementation Group D2 58
618 CPR004 Coproporphyria, Hereditary 58
619 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 57
620 LYS003 Lysinuric Protein Intolerance 57
621 P WLF004 Wolfram Syndrome 57
622 VRG001 Variegate Porphyria 57
623 P GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 57
624 c MCL046 Mucolipidosis Iii Alpha/beta 57
625 CRN295 Carnitine Palmitoyltransferase I Deficiency 56
626 P ATR001 Atrioventricular Septal Defect 56
627 P EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 56
628 P VNB005 Van Buchem Disease 56
629 ARS001 Aarskog-Scott Syndrome 56
630 P VSC013 Visceral Heterotaxy 56
631 PRT082 Preterm Premature Rupture of the Membranes 56
632 P HRD011 Hereditary Spherocytosis 56
633 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 56
634 c HLP023 Holoprosencephaly 1 56
635 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 56
636 P STS003 Sitosterolemia 56
637 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 56
638 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 56
639 c ART120 Arthrogryposis, Distal, Type 3 55
640 TCK001 Tick-Borne Encephalitis 55
641 P LFT003 Left Ventricular Noncompaction 55
642 P AML002 Amelogenesis Imperfecta 55
643 OPT054 Opitz-Kaveggia Syndrome 55
644 P PRK001 Porokeratosis 55
645 P DRR001 Diarrhea 55
646 P SCK002 Sick Sinus Syndrome 55
647 P ANG015 Angioedema 55
648 P SCK004 Seckel Syndrome 55
649 P PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54
650 c INF037 Inflammatory Bowel Disease 54
651 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 54
652 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
653 c HYD064 Hydrocephalus, Congenital, 1 54
654 c OPT053 Optic Atrophy 1 54
655 GLC009 Glucosephosphate Dehydrogenase Deficiency 54
656 P CNG010 Congenital Stationary Night Blindness 54
657 P NNT058 Neonatal Diabetes 53
658 c LTH007 Lethal Congenital Contracture Syndrome 1 53
659 c FNC045 Fanconi Anemia, Complementation Group F 53
660 c CRN278 Craniosynostosis 1 53
661 GLC003 Glucose Intolerance 53
662 c HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 53
663 P NLD001 Nail Disease 53
664 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 53
665 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 53
666 c FNC025 Fanconi Anemia, Complementation Group J 53
667 c MLT086 Multiple Endocrine Neoplasia, Type Iv 53
668 c CNG216 Congenital Hydrocephalus 53
669 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
670 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
671 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
672 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
673 SCH071 Schaaf-Yang Syndrome 52
674 P TRC102 Trichothiodystrophy 1, Photosensitive 52
675 P VND002 Van Der Woude Syndrome 52
676 c HRD117 Hereditary Breast Cancer 52
677 c GLL038 Galloway-Mowat Syndrome 1 52
678 c HLP026 Holoprosencephaly 3 52
679 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
680 ABL002 Ablepharon-Macrostomia Syndrome 52
681 P DVL113 Developmental and Epileptic Encephalopathy 51
682 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
683 c PRM031 Primary Autosomal Recessive Microcephaly 51
684 P NLX004 Neu-Laxova Syndrome 1 51
685 P BRT050 Bartter Syndrome, Type 2, Antenatal 51
686 NNL006 Non-Alcoholic Steatohepatitis 51
687 AGN012 Agnathia-Otocephaly Complex 51
688 NRL018 Neural Tube Defects, Folate-Sensitive 51
689 c HRD173 Hereditary Late-Onset Parkinson Disease 51
690 c DWL002 Dowling-Degos Disease 1 51
691 c INF023 Inflammatory Breast Carcinoma 51
692 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 51
693 HYP801 Hyperferritinemia with or Without Cataract 51
694 P PRM030 Permanent Neonatal Diabetes Mellitus 51
695 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 50
696 c HLP025 Holoprosencephaly 9 50
697 CNT056 Cantu Syndrome 50
698 c FNC032 Fanconi Anemia, Complementation Group B 50
699 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 50
700 MLB001 Mulibrey Nanism 50
701 c ART155 Arthrogryposis, Distal, Type 2b1 50
702 PTC002 Potocki-Lupski Syndrome 50
703 c TRN032 Transient Neonatal Diabetes Mellitus 50
704 c OPT068 Optic Atrophy 3, Autosomal Dominant 50
705 c FNC028 Fanconi Anemia, Complementation Group L 50
706 P ANX007 Anauxetic Dysplasia 1 50
707 SLR001 Sialuria 50
708 P KRT007 Keratoconus 50
709 P MCL001 Mucolipidosis 50
710 P PRT042 Parietal Foramina 50
711 c JBR004 Joubert Syndrome 2 50
712 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 49
713 P HRD012 Hereditary Elliptocytosis 49
714 c HYP575 Hypotrichosis 7 49
715 c BRD015 Bardet-Biedl Syndrome 3 49
716 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 49
717 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 49
718 c JBR012 Joubert Syndrome 5 48
719 c ALZ049 Alzheimer Disease 2 48
720 GLY014 Glycerol Kinase Deficiency 48
721 P BRT028 Brittle Cornea Syndrome 1 48
722 c HYP597 Hyperprolinemia, Type Ii 48
723 c STS010 Sitosterolemia 1 48
724 RNS001 Raine Syndrome 48
725 VTM002 Vitamin B12 Deficiency 48
726 P BCT020 Bacteremia 2 48
727 P BRS053 Breast Fibroadenoma 48
728 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 48
729 c ALZ045 Alzheimer Disease 9 48
730 SNG007 Sengers Syndrome 48
731 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
732 c RTS003 Ritscher-Schinzel Syndrome 1 48
733 P BWL003 Bowel Dysfunction 48
734 KRT010 Kartagener Syndrome 48
735 MCR096 Macrocephaly/autism Syndrome 48
736 c MCK032 Meckel Syndrome, Type 3 47
737 P KLP003 Klippel-Feil Syndrome 47
738 c MCK033 Meckel Syndrome, Type 4 47
739 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
740 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 47
741 c BRS049 Breast Carcinoma in Situ 47
742 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 47
743 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
744 BRL010 Buruli Ulcer 47
745 MNC019 Monocarboxylate Transporter 1 Deficiency 47
746 c ZLL011 Zellweger Spectrum Disorder 47
747 MLL011 Mullerian Aplasia and Hyperandrogenism 47
748 c ACR116 Aicardi-Goutieres Syndrome 1 47
749 c FNC023 Fanconi Anemia, Complementation Group N 47
750 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 47
751 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
752 CRB147 Cerebellofaciodental Syndrome 47
753 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47
754 c MCK030 Meckel Syndrome, Type 7 46
755 P DWL001 Dowling-Degos Disease 46
756 AYM001 Ayme-Gripp Syndrome 46
757 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
758 PRX001 Peroxisomal Disease 46
759 P MTH007 Methemoglobinemia 46
760 P HYP776 Hyperparathyroidism, Neonatal Severe 46
761 c MCR124 Microphthalmia, Isolated 1 46
762 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 46
763 P PRX021 Proximal Symphalangism 46
764 P GLL032 Galloway-Mowat Syndrome 46
765 c MCK014 Meckel Syndrome, Type 5 46
766 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 46
767 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
768 c DVL118 Developmental and Epileptic Encephalopathy 94 46
769 c CHR711 Chronic Asthma 46
770 P SPS008 Spastic Ataxia 45
771 c HLP016 Holoprosencephaly 11 45
772 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
773 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 45
774 c MCK012 Meckel Syndrome, Type 6 45
775 c JBR022 Joubert Syndrome 20 45
776 c TRC100 Trichothiodystrophy 3, Photosensitive 45
777 c MRG010 Meier-Gorlin Syndrome 3 45
778 c DMN021 Diamond-Blackfan Anemia 6 45
779 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 45
780 c PTT030 Pitt-Hopkins-Like Syndrome 2 45
781 c CRN111 Cranioectodermal Dysplasia 4 45
782 CRB148 Cerebral Creatine Deficiency Syndrome 3 45
783 c DMN029 Diamond-Blackfan Anemia 11 45
784 c ALZ062 Alzheimer Disease 19 45
785 c BRD032 Bardet-Biedl Syndrome 14 45
786 c LNG053 Long Qt Syndrome 9 44
787 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
788 P SYN060 Syndactyly, Type Iii 44
789 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 44
790 c ACT249 Acute Asthma 44
791 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 44
792 c HLP029 Holoprosencephaly 4 44
793 DRR008 Diarrhea 1, Secretory Chloride, Congenital 44
794 P MCR384 Microcephaly, Epilepsy, and Diabetes Syndrome 1 44
795 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 44
796 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 44
797 c SCK009 Seckel Syndrome 1 44
798 c 2HY001 2-Hydroxyglutaric Aciduria 44
799 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
800 P PST059 Pustular Psoriasis 44
801 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
802 CHR594 Chromosome 3q29 Deletion Syndrome 44
803 c SYN061 Syndactyly, Type Iv 44
804 c NNN009 Noonan Syndrome 2 44
805 P MLG069 Malignant Hypertension 44
806 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 44
807 c SYS043 Systemic Lupus Erythematosus 1 44
808 PHS023 Phosphoserine Aminotransferase Deficiency 43
809 P CMM008 Communicating Hydrocephalus 43
810 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 43
811 c ORF027 Orofacial Cleft 11 43
812 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
813 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 43
814 c JBR016 Joubert Syndrome 10 43
815 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 43
816 PLY068 Polysubstance Abuse 43
817 c WRB003 Warburg Micro Syndrome 2 43
818 c PRK052 Parkinson Disease 17 43
819 c DYS119 Dystonia 9 43
820 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 43
821 CMP007 Complement Component 5 Deficiency 43
822 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 43
823 FZL002 Fazio-Londe Disease 43
824 MNC011 Minicore Myopathy with External Ophthalmoplegia 42
825 c PRM038 Primary Agammaglobulinemia 42
826 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 42
827 c CRD257 Ceroid Lipofuscinosis, Neuronal, 4 42
828 c LBR011 Leber Congenital Amaurosis 16 42
829 c DMN006 Diamond-Blackfan Anemia 3 42
830 IVC001 Ivic Syndrome 42
831 P CRN327 Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 42
832 c NNN012 Noonan Syndrome 5 42
833 c TRC078 Trichohepatoenteric Syndrome 2 42
834 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
835 c FRS016 Fraser Syndrome 2 42
836 DPH019 Diaphanospondylodysostosis 42
837 c BRD048 Bardet-Biedl Syndrome 18 42
838 P ORF002 Orofacial Cleft 42
839 c SPR009 Sporadic Breast Cancer 42
840 INT504 Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 41
841 CRN325 Craniotubular Dysplasia, Ikegawa Type 41
842 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
843 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 41
844 c CNG404 Congenital Heart Defects, Multiple Types, 4 41
845 PLY158 Polyglucosan Body Neuropathy, Adult Form 41
846 P PRC031 Preeclampsia/eclampsia 1 41
847 c SCK010 Seckel Syndrome 4 41
848 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 41
849 c MCR122 Microphthalmia, Isolated 5 41
850 c PRK091 Parkinson Disease 4, Autosomal Dominant 41
851 c GLP004 Geleophysic Dysplasia 2 41
852 P RDL002 Radioulnar Synostosis 41
853 P MLT072 Multiple Synostoses Syndrome 41
854 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 41
855 c ART157 Arthrogryposis, Distal, Type 2b3 41
856 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
857 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 41
858 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 41
859 c FNC058 Fanconi Anemia, Complementation Group R 41
860 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
861 c WLF009 Wolfram Syndrome 2 41
862 P CRB050 Cerebrooculofacioskeletal Syndrome 41
863 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
864 c SPH013 Spherocytosis, Type 1 41
865 c MRG015 Meier-Gorlin Syndrome 7 41
866 P HYP087 Hypotrichosis 40
867 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 40
868 c BRG003 Brugada Syndrome 3 40
869 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40
870 c CLR114 Ciliary Dyskinesia, Primary, 30 40
871 c NNN021 Noonan Syndrome 8 40
872 c MRG012 Meier-Gorlin Syndrome 5 40
873 c OST110 Osteogenesis Imperfecta, Type Xv 40
874 P DYS005 Dyslexia 40
875 c CRN209 Cornelia De Lange Syndrome 5 40
876 P HYP111 Hyperprolinemia 40
877 c HLP028 Holoprosencephaly 5 40
878 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
879 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 40
880 CRT045 Creatine Phosphokinase, Elevated Serum 40
881 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 40
882 c JBR015 Joubert Syndrome 6 40
883 c HYP525 Hypotrichosis 2 40
884 c BRD020 Bardet-Biedl Syndrome 8 40
885 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 40
886 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 40
887 c ACQ012 Acquired Angioedema 40
888 c FNC057 Fanconi Anemia, Complementation Group U 40
889 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 40
890 CRT046 Corticosteroid-Binding Globulin Deficiency 40
891 P CNG024 Congenital Nystagmus 40
892 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
893 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 40
894 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
895 c PRG020 Paragangliomas 3 39
896 WCK001 Wieacker-Wolff Syndrome 39
897 c PRM212 Primary Microcephaly 39
898 c BRT029 Brittle Cornea Syndrome 2 39
899 CMP089 Complement Component 6 Deficiency 39
900 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 39
901 P LTH003 Lethal Congenital Contracture Syndrome 39
902 c BRD047 Bardet-Biedl Syndrome 16 39
903 c AML020 Amelogenesis Imperfecta, Type Iv 39
904 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 39
905 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
906 RPP001 Rapp-Hodgkin Syndrome 39
907 ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 39
908 c PRX054 Peroxisome Biogenesis Disorder 12a 39
909 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
910 c HTR021 Heterotaxy, Visceral, 5, Autosomal 39
911 c JBR037 Joubert Syndrome 26 39
912 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
913 c PLY149 Polydactyly, Preaxial Iv 39
914 c CNG223 Congenital Methemoglobinemia 39
915 c HYP559 Hypotrichosis 8 39
916 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
917 c VND007 Van Der Woude Syndrome 1 39
918 c KNN009 Kenny-Caffey Syndrome, Type 1 39
919 FRG010 Fragile X Tremor/ataxia Syndrome 39
920 SNL007 Senile Cataract 39
921 P SYN012 Synpolydactyly 38
922 c CLR066 Ciliary Dyskinesia, Primary, 2 38
923 c NGH025 Night Blindness, Congenital Stationary, Type 2a 38
924 c AMY088 Amyotrophic Lateral Sclerosis 3 38
925 P DYS215 Dyskinesia with Orofacial Involvement, Autosomal Dominant 38
926 c 46X017 46,xy Sex Reversal 6 38
927 HYP540 Hypertension, Diastolic 38
928 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 38
929 INT270 Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome 38
930 c NNN020 Noonan Syndrome 7 38
931 TRN012 Transient Global Amnesia 38
932 P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 38
933 c LTH008 Lethal Congenital Contracture Syndrome 2 38
934 P UVS001 Uv-Sensitive Syndrome 38
935 RST023 Resting Heart Rate, Variation in 38
936 c BRT038 Baraitser-Winter Syndrome 1 38
937 c DMN020 Diamond-Blackfan Anemia 8 38
938 c ACR091 Aicardi-Goutieres Syndrome 4 38
939 P SCH077 Schwannomatosis 1 38
940 P NNP021 Nanophthalmos 38
941 P BRT040 Baraitser-Winter Syndrome 38
942 MLC004 Mulchandani-Bhoj-Conlin Syndrome 38
943 c ERL056 Early-Onset Parkinson's Disease 38
944 c CWD004 Cowden Syndrome 5 38
945 c HYP606 Hypokalemic Periodic Paralysis, Type 2 38
946 c LPR011 Leopard Syndrome 2 38
947 c FNC046 Fanconi Anemia, Complementation Group P 38
948 c DMN024 Diamond-Blackfan Anemia 7 38
949 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 37
950 c CTR145 Cataract 44 37
951 CHR225 Chromosome 1q21.1 Duplication Syndrome 37
952 CRN274 Corneal Dystrophy, Posterior Amorphous 37
953 c HLP024 Holoprosencephaly 2 37
954 CMP087 Complement Component 7 Deficiency 37
955 c AMY023 Amyotrophic Lateral Sclerosis Type 6 37
956 HYD030 Hydroxykynureninuria 37
957 HTR014 Heterotaxy, Visceral, 1, X-Linked 37
958 c VNM002 Van Maldergem Syndrome 2 37
959 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
960 c ART156 Arthrogryposis, Distal, Type 2b2 37
961 c SPN102 Spinocerebellar Ataxia 30 37
962 c EPL236 Epilepsy, Idiopathic Generalized 15 37
963 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 37
964 c PRX063 Peroxisome Biogenesis Disorder 2a 37
965 P THY054 Thyrotoxic Periodic Paralysis 37
966 CMB019 Combined Oxidative Phosphorylation Deficiency 8 37
967 c ACR092 Aicardi-Goutieres Syndrome 5 37
968 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 37
969 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 37
970 c MCR329 Microcephaly, Autosomal Dominant 37
971 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 37
972 c SCK011 Seckel Syndrome 5 37
973 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 37
974 c PRT059 Parietal Foramina 1 36
975 c ACT004 Acute Diarrhea 36
976 c LTH026 Lethal Congenital Contracture Syndrome 4 36
977 HMM004 Hamamy Syndrome 36
978 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 36
979 c JBR040 Joubert Syndrome 30 36
980 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 36
981 c ELL005 Elliptocytosis 2 36
982 MST021 Meester-Loeys Syndrome 36
983 P LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 36
984 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
985 LSN002 Loose Anagen Hair Syndrome 36
986 P ENC056 Encephalopathy, Acute, Infection-Induced 4 36
987 RHM034 Rahman Syndrome 36
988 c EXD012 Exudative Vitreoretinopathy 7 36
989 c BRD053 Bardet-Biedl Syndrome 22 36
990 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 36
991 c LBR029 Leber Congenital Amaurosis 17 36
992 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 36
993 c ELL010 Elliptocytosis 1 36
994 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 36
995 c AML047 Amelogenesis Imperfecta, Type Ia 36
996 c PRX060 Peroxisome Biogenesis Disorder 5a 36
997 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 36
998 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 36
999 c PRK070 Parkinson Disease 21 35
1000 ATX039 Ataxia-Pancytopenia Syndrome 35
1001 c NGH027 Night Blindness, Congenital Stationary, Type 1c 35
1002 HYP846 Hypopigmentation, Organomegaly, and Delayed Myelination and Development 35
1003 c FNC034 Fanconi Renotubular Syndrome 2 35
1004 NRD058 Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures 35
1005 c LFR009 Li-Fraumeni Syndrome 1 35
1006 EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 35
1007 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
1008 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 35
1009 P TRG016 Trigonocephaly 1 35
1010 c KBK003 Kabuki Syndrome 2 35
1011 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
1012 c DYS162 Dystonia, Juvenile-Onset 35
1013 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 35
1014 c CLR042 Ciliary Dyskinesia, Primary, 6 35
1015 c RTS002 Ritscher-Schinzel Syndrome 2 35
1016 c NNS018 Nonsyndromic Paraganglioma 35
1017 c PRX050 Peroxisome Biogenesis Disorder 9b 35
1018 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 35
1019 c CRN214 Coronary Heart Disease 5 35
1020 c SYN084 Synpolydactyly 1 35
1021 c JBR045 Joubert Syndrome 33 35
1022 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
1023 c BRD035 Bardet-Biedl Syndrome 15 35
1024 c ALZ063 Alzheimer's Disease 1 35
1025 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 34
1026 c NGH024 Night Blindness, Congenital Stationary, Type 1h 34
1027 c CLR056 Ciliary Dyskinesia, Primary, 10 34
1028 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 34
1029 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 34
1030 c CTR183 Cataract 38 34
1031 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 34
1032 PRC054 Perching Syndrome 34
1033 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 34
1034 c BRC060 Brachydactyly, Type E2 34
1035 c SPH014 Spherocytosis, Type 2 34
1036 c INF002 Inflammatory Diarrhea 34
1037 c MRG009 Meier-Gorlin Syndrome 2 34
1038 c CLR101 Ciliary Dyskinesia, Primary, 25 34
1039 c GLM047 Glioma Susceptibility 3 34
1040 c PRK080 Porokeratosis 3, Multiple Types 34
1041 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 34
1042 c JBR014 Joubert Syndrome 9 34
1043 c HYP577 Hypotrichosis 13 34
1044 c CRP022 Carpenter Syndrome 2 34
1045 c TRC099 Trichothiodystrophy 2, Photosensitive 34
1046 c ISL165 Isolated Microphthalmia 3 34
1047 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 34
1048 P XLN255 X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders 34
1049 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 34
1050 c PRX057 Peroxisome Biogenesis Disorder 4a 34
1051 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1052 PHS022 Phosphoserine Phosphatase Deficiency 34
1053 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
1054 c ANX008 Anauxetic Dysplasia 2 34
1055 c NNN024 Noonan Syndrome 9 33
1056 c HRD226 Hereditary Spastic Paraplegia 49 33
1057 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 33
1058 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 33
1059 c AMY079 Amyotrophic Lateral Sclerosis Type 15 33
1060 CHT006 Chitayat Syndrome 33
1061 c DMN018 Diamond-Blackfan Anemia 5 33
1062 c SPH015 Spherocytosis, Type 3 33
1063 GLT040 Glutamate-Cysteine Ligase Deficiency 33
1064 P CHR084 Chromosomal Disease 33
1065 c ACQ047 Acquired Methemoglobinemia 33
1066 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 33
1067 VSS004 Viss Syndrome 33
1068 CHR582 Chromosome 3q29 Duplication Syndrome 33
1069 c ELL006 Elliptocytosis 3 33
1070 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 33
1071 P MCR364 Macrodactyly 33
1072 c AMY022 Amyotrophic Lateral Sclerosis Type 5 33
1073 c THY084 Thyrotoxic Periodic Paralysis 1 33
1074 CHL050 Cholesterol Ester Storage Disease 33
1075 P ZMM001 Zimmermann-Laband Syndrome 33
1076 MYC071 Myoclonic-Atonic Epilepsy 33
1077 c THY083 Thyrotoxic Periodic Paralysis 2 33
1078 P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 33
1079 NRC023 Neuroocular Syndrome 33
1080 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 33
1081 CHR386 Chromosome 6pter-P24 Deletion Syndrome 33
1082 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 33
1083 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 32
1084 ATN022 Autoinflammation, Antibody Deficiency, and Immune Dysregulation 32
1085 c AMY081 Amyotrophic Lateral Sclerosis Type 12 32
1086 CLC008 Colchicine Resistance 32
1087 P RTS001 Ritscher-Schinzel Syndrome 32
1088 BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 32
1089 c GLM025 Glioma Susceptibility 2 32
1090 c THR069 Three M Syndrome 2 32
1091 c EPL086 Epilepsy, Idiopathic Generalized 9 32
1092 ATM052 Autoimmune Disease 1 32
1093 c DRR009 Diarrhea 6 32
1094 c PRT060 Parietal Foramina 2 32
1095 CMB013 Combined Oxidative Phosphorylation Deficiency 2 32
1096 SFR001 Sifrim-Hitz-Weiss Syndrome 32
1097 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 32
1098 P KNN002 Kenny-Caffey Syndrome 32
1099 c TYP055 Type 1 Diabetes Mellitus 22 32
1100 c HTR010 Heterotaxy, Visceral, 4, Autosomal 32
1101 c DMN005 Diamond-Blackfan Anemia 2 32
1102 c GLL040 Galloway-Mowat Syndrome 3 32
1103 c BRT039 Baraitser-Winter Syndrome 2 32
1104 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 32
1105 c CTR185 Cataract 30 32
1106 c DMN049 Diamond-Blackfan Anemia 20 32
1107 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 32
1108 c EPL200 Epilepsy, Childhood Absence 1 31
1109 c TYP038 Type 1 Diabetes Mellitus 15 31
1110 FBR097 Fibrosis, Neurodegeneration, and Cerebral Angiomatosis 31
1111 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
1112 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 31
1113 c SCK033 Seckel Syndrome 8 31
1114 c CLR069 Ciliary Dyskinesia, Primary, 8 31
1115 c STS008 Sotos Syndrome 1 31
1116 c DVL119 Developmental and Epileptic Encephalopathy 6b 31
1117 WSS006 Weiss-Kruszka Syndrome 31
1118 c CNG514 Congenital Radioulnar Synostosis 31
1119 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 31
1120 c ORF048 Orofacial Cleft 1 31
1121 P ART169 Arthrogryposis Multiplex Congenita 6 31
1122 c PSD107 Pseudo-Torch Syndrome 2 31
1123 c NGH028 Night Blindness, Congenital Stationary, Type 1d 31
1124 HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 31
1125 c SLV028 Silver-Russell Syndrome 3 31
1126 c EPL098 Epilepsy, Idiopathic Generalized 12 31
1127 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 31
1128 MLR020 Malaria, Mild 31
1129 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
1130 NRC022 Neurooculocardiogenitourinary Syndrome 31
1131 NRD103 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 31
1132 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 31
1133 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 31
1134 c TRG015 Trigonocephaly 2 31
1135 c ALZ050 Alzheimer Disease 5 30
1136 c CNR023 Cone-Rod Dystrophy 8 30
1137 c MNK005 Menke-Hennekam Syndrome 1 30
1138 c OPT023 Optic Atrophy 2 30
1139 c ART060 Arthrogryposis, Distal, Type 1b 30
1140 CRN126 Corneal Dystrophy, Lisch Epithelial 30
1141 P CRN249 Cornea Plana 30
1142 c JBR039 Joubert Syndrome 28 30
1143 c SPS072 Spastic Ataxia 1, Autosomal Dominant 30
1144 c SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 30
1145 c PRX058 Peroxisome Biogenesis Disorder 4b 30
1146 c EPL205 Epilepsy, Idiopathic Generalized 13 30
1147 c FNC062 Fanconi Anemia, Complementation Group S 30
1148 c PRG094 Paragangliomas 5 30
1149 c INF086 Inflammatory Bowel Disease 3 30
1150 c HLP021 Holoprosencephaly 6 30
1151 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
1152 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 30
1153 c AML064 Amelogenesis Imperfecta, Type Iiic 30
1154 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 30
1155 c MRG016 Meier-Gorlin Syndrome 8 30
1156 c SCK032 Seckel Syndrome 6 30
1157 c SPH017 Spherocytosis, Type 5 30
1158 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 30
1159 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 30
1160 LNG113 Liang-Wang Syndrome 30
1161 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
1162 LBR035 Liberfarb Syndrome 30
1163 c ORF014 Orofacial Cleft 5 30
1164 c EPL091 Epilepsy, Idiopathic Generalized 3 29
1165 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 29
1166 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 29
1167 c CLR067 Ciliary Dyskinesia, Primary, 4 29
1168 BMB001 Bombay Phenotype 29
1169 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 29
1170 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 29
1171 c SPN203 Spinocerebellar Ataxia, X-Linked 5 29
1172 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
1173 c SPS170 Spastic Ataxia 2 29
1174 ALR002 Al-Raqad Syndrome 29
1175 c KRT029 Keratoconus 1 29
1176 c VSC067 Visceral Neuropathy, Familial, 1, Autosomal Recessive 29
1177 TRN074 Turnpenny-Fry Syndrome 29
1178 MYP120 Myopathy, Distal, with Rimmed Vacuoles 29
1179 c SPL070 Split-Hand/foot Malformation 2 29
1180 P DYS190 Dystonia 28, Childhood-Onset 29
1181 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
1182 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1183 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
1184 c ORF028 Orofacial Cleft 10 29
1185 c MRG011 Meier-Gorlin Syndrome 4 29
1186 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 29
1187 c HRD188 Hereditary Spastic Paraplegia 72 29
1188 c ATR034 Atrial Septal Defect 6 29
1189 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 29
1190 c FNC066 Fanconi Renotubular Syndrome 5 29
1191 c LFT021 Left Ventricular Noncompaction 1 29
1192 c SCH080 Schizophrenia 3 29
1193 FCT032 Factor Xiii, a Subunit, Deficiency of 29
1194 c DMN022 Diamond-Blackfan Anemia 9 29
1195 INS034 Insulinomatosis and Diabetes Mellitus 29
1196 HMP033 Hemophagocytic Lymphohistiocytosis, Familial, 5, with or Without Microvillus Inclusion Disease 29
1197 c CNG478 Congenital Diarrhea 29
1198 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 29
1199 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 29
1200 c INF089 Inflammatory Bowel Disease 6 29
1201 c ALZ059 Alzheimer Disease 13 28
1202 c DRR021 Diarrhea 11, Malabsorptive, Congenital 28
1203 c FRS015 Fraser Syndrome 3 28
1204 c SCH064 Schizophrenia 10 28
1205 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 28
1206 c SYN064 Syndromic X-Linked Intellectual Disability 28
1207 c PRM192 Premature Ovarian Failure 8 28
1208 c TRM022 Tremor, Hereditary Essential, 5 28
1209 c TRM020 Tremor, Hereditary Essential, 2 28
1210 CHR399 Chromosome 4q21 Deletion Syndrome 28
1211 HYP859 Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 28
1212 IMM002 Immature Cataract 28
1213 c PRX043 Peroxisome Biogenesis Disorder 6b 28
1214 c CLR123 Ciliary Dyskinesia, Primary, 37 28
1215 SPS245 Spastic Paraplegia 56, Autosomal Recessive, with or Without Pseudoxanthoma Elasticum 28
1216 c BNM032 Bone Marrow Failure Syndrome 4 28
1217 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 28
1218 SND015 Sandestig-Stefanova Syndrome 28
1219 c PRX047 Peroxisome Biogenesis Disorder 5b 28
1220 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 28
1221 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
1222 MYC092 Myoectodermal Gonadal Dysgenesis Syndrome 28
1223 c GNT045 Giant Axonal Neuropathy 2 28
1224 NRD083 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies 28
1225 c PRM090 Premature Ovarian Failure 6 28
1226 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 28
1227 JNS007 Jansen-De Vries Syndrome 28
1228 c HYP528 Hypotrichosis 11 28
1229 c PRM089 Premature Ovarian Failure 3 28
1230 CMB077 Combined Oxidative Phosphorylation Deficiency 30 28
1231 c MLG080 Malignant Secondary Hypertension 28
1232 c PRM094 Premature Ovarian Failure 5 28
1233 P ADP010 Adiponectin, Serum Level of, Quantitative Trait Locus 1 28
1234 c DMN019 Diamond-Blackfan Anemia 4 28
1235 P PRT259 Proteasome-Associated Autoinflammatory Syndrome 28
1236 c ATR047 Atrioventricular Septal Defect 2 28
1237 c GLY093 Glycogen Storage Disease Ixa 28
1238 c SCH061 Schizophrenia 16 28
1239 c PRM207 Premature Ovarian Failure 10 28
1240 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 28
1241 c LPR007 Leopard Syndrome 3 28
1242 c DYS121 Dyslexia 1 28
1243 c NRL039 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 28
1244 NRD080 Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities 28
1245 c LNG052 Long Qt Syndrome 8 28
1246 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
1247 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
1248 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 27
1249 c UVS005 Uv-Sensitive Syndrome 1 27
1250 c PRX068 Peroxisome Biogenesis Disorder 7b 27
1251 NRD124 Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities 27
1252 P AST056 Asthma-Related Traits 2 27
1253 c MCK020 Meckel Syndrome, Type 11 27
1254 PRM087 Premature Chromatid Separation Trait 27
1255 MTR001 Mature Cataract 27
1256 c PRK083 Parkinson Disease 22, Autosomal Dominant 27
1257 c CRN110 Cranioectodermal Dysplasia 3 27
1258 c SHR129 Short-Rib Thoracic Dysplasia 21 Without Polydactyly 27
1259 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1260 c SPS136 Spastic Ataxia 3, Autosomal Recessive 27
1261 c CLR054 Ciliary Dyskinesia, Primary, 12 27
1262 P PST016 Posterior Polar Cataract 27
1263 c MLT078 Multiple Synostoses Syndrome 3 27
1264 CHR366 Chromosome 5p13 Duplication Syndrome 27
1265 c SCH053 Schizophrenia 13 27
1266 c INT563 Intellectual Developmental Disorder, Autosomal Dominant 57 27
1267 c ART167 Arthrogryposis Multiplex Congenita 5 27
1268 c 46X048 46,xx Sex Reversal 2 27
1269 P NRD134 Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies 27
1270 HRS016 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 27
1271 c CTR180 Cataract 22, Multiple Types 27
1272 c INF072 Inflammatory Bowel Disease 11 27
1273 INC037 Inclusion Body Myopathy and Brain White Matter Abnormalities 27
1274 CMP094 Complement Component 4b Deficiency 27
1275 c DVL120 Developmental and Epileptic Encephalopathy 95 27
1276 c BRG010 Brugada Syndrome 8 27
1277 CMP095 Complement Component 4a Deficiency 27
1278 c MCR282 Microcephaly and Chorioretinopathy 1 27
1279 DGC001 Degcags Syndrome 27
1280 c DVL088 Developmental and Epileptic Encephalopathy 64 27
1281 c SPS171 Spastic Ataxia 5 27
1282 c HML034 Hemolytic Uremic Syndrome, Atypical 3 27
1283 c HYP578 Hypotrichosis 12 27
1284 c ENC060 Encephalopathy, Acute, Infection-Induced 1 27
1285 DVL021 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 27
1286 c RBN023 Robinow Syndrome, Autosomal Recessive 2 27
1287 c STS011 Sitosterolemia 2 27
1288 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 27
1289 SNJ003 Snijders Blok-Fisher Syndrome 27
1290 c PRK098 Parkinson Disease 5, Autosomal Dominant 27
1291 PRT043 Parietal Foramina with Cleidocranial Dysplasia 27
1292 c ACR124 Aicardi-Goutieres Syndrome 9 27
1293 LKN032 Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness 26
1294 DLC002 D-Lactic Aciduria with Gout 26
1295 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
1296 c GLL027 Gallbladder Disease 4 26
1297 c CNG511 Congenital Heart Defects, Multiple Types, 2 26
1298 c HML037 Hemolytic Uremic Syndrome, Atypical 5 26
1299 STN014 Stankiewicz-Isidor Syndrome 26
1300 DHS002 Deeah Syndrome 26
1301 MYP165 Myopathy, Epilepsy, and Progressive Cerebral Atrophy 26
1302 c PLZ002 Pelizaeus-Merzbacher-Like Disease 26
1303 FBR100 Fibromuscular Dysplasia, Multifocal 26
1304 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1305 c NBS001 Nabais Sa-De Vries Syndrome, Type 1 26
1306 c EPL089 Epilepsy, Idiopathic Generalized 4 26
1307 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 26
1308 c LKD027 Leukodystrophy, Hypomyelinating, 14 26
1309 c HTR020 Heterotaxy, Visceral, 8, Autosomal 26
1310 c MCR219 Microphthalmia, Isolated 8 26
1311 c MRG014 Meier-Gorlin Syndrome 6 26
1312 c PRM091 Premature Ovarian Failure 2b 26
1313 c FRM005 Frmd7-Related Infantile Nystagmus 26
1314 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 26
1315 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
1316 CMB072 Combined Oxidative Phosphorylation Deficiency 28 26
1317 BLR033 Biliary, Renal, Neurologic, and Skeletal Syndrome 26
1318 c BRN143 Bronchiectasis 1 26
1319 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 26
1320 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
1321 c PRM254 Premature Ovarian Failure 11 26
1322 FGS002 Fg Syndrome 2 26
1323 c GLL042 Galloway-Mowat Syndrome 5 26
1324 c ATR067 Atrioventricular Septal Defect 4 26
1325 c HTR023 Heterotaxy, Visceral, 6, Autosomal 26
1326 c EPL261 Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders 26
1327 c ART102 Arterial Calcification, Generalized, of Infancy, 2 26
1328 c 46X046 46,xy Sex Reversal 4 26
1329 c HML032 Hemolytic Uremic Syndrome, Atypical 4 26
1330 c DVL127 Developmental and Epileptic Encephalopathy 98 26
1331 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1332 c LTH029 Lethal Congenital Contracture Syndrome 9 26
1333 c DVL128 Developmental and Epileptic Encephalopathy 99 26
1334 RHN013 Rh-Null, Regulator Type 26
1335 c OPT025 Optic Atrophy 6 26
1336 c SPN455 Spinocerebellar Ataxia, Autosomal Recessive 31 26
1337 c HYP884 Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive 26
1338 c OCY003 Oocyte Maturation Defect 1 26
1339 c SYN088 Synpolydactyly 2 26
1340 c TWN010 Townes-Brocks Syndrome 2 26
1341 c HRM020 Hermansky-Pudlak Syndrome 10 26
1342 c PRM253 Premature Ovarian Failure 13 26
1343 c JBR049 Joubert Syndrome 37 26
1344 c ALZ014 Alzheimer Disease 16 26
1345 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 26
1346 c SHR116 Short-Rib Thoracic Dysplasia 20 with Polydactyly 26
1347 c SCH084 Schizophrenia 8 26
1348 c PRR022 Perrault Syndrome 2 26
1349 c PRK099 Parkinson Disease 18, Autosomal Dominant 26
1350 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 26
1351 c EPL093 Epilepsy, Idiopathic Generalized 7 26
1352 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1353 c RDL040 Radioulnar Synostosis, Nonsyndromic 26
1354 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 26
1355 SDD009 Sudden Cardiac Failure, Infantile 26
1356 c CTR121 Cataract 25 26
1357 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
1358 c LTH042 Lethal Congenital Contracture Syndrome 10 25
1359 c CHR565 Chromosomal Deletion Syndrome 25
1360 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1361 c FNC061 Fanconi Anemia, Complementation Group W 25
1362 TNR001 Tenorio Syndrome 25
1363 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 25
1364 c LTH032 Lethal Congenital Contracture Syndrome 7 25
1365 c NNP011 Nanophthalmos 2 25
1366 c ORF025 Orofacial Cleft 6 25
1367 c GLL045 Galloway-Mowat Syndrome 6 25
1368 P MNK007 Menke-Hennekam Syndrome 25
1369 c ORF023 Orofacial Cleft 4 25
1370 c GLL046 Galloway-Mowat Syndrome 7 25
1371 c RTS005 Ritscher-Schinzel Syndrome 4 25
1372 c CNG521 Congenital Heart Defects, Multiple Types, 5 25
1373 DLY011 Delayed Puberty, Self-Limited 25
1374 c DRR018 Diarrhea 9 25
1375 c INF082 Inflammatory Bowel Disease 23 25
1376 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 25
1377 c ATS370 Autism 3 25
1378 c CRN280 Cornea Plana 2, Autosomal Recessive 25
1379 c OPT060 Optic Atrophy 8 25
1380 c LNG114 Long Qt Syndrome 16 25
1381 c BNG021 Benign Essential Hypertension 25
1382 c DVL032 Developmental and Epileptic Encephalopathy 90 25
1383 c DYS212 Dystonia 30 25
1384 c ATR071 Atrioventricular Septal Defect 5 25
1385 GND018 Gene Duplication Disease 25
1386 CRB041 Carboxypeptidase N Deficiency 25
1387 c SYM019 Symphalangism, Proximal, 1b 25
1388 c DVL131 Developmental and Epileptic Encephalopathy 100 25
1389 SDD011 Siddiqi Syndrome 25
1390 c AXN012 Axenfeld-Rieger Syndrome, Type 2 25
1391 c ANX011 Anauxetic Dysplasia 3 25
1392 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 25
1393 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 25
1394 MRG001 Morgagni Cataract 25
1395 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 25
1396 ALZ029 Alzheimer Disease Mitochondrial 25
1397 c TRS025 Torsion Dystonia 2 25
1398 CNG512 Congenital Disorder of Glycosylation, Type Iaa 25
1399 c DMN045 Diamond-Blackfan Anemia-Like 25
1400 c BLP049 Blepharocheilodontic Syndrome 2 25
1401 c PRR026 Perrault Syndrome 5 25
1402 c INT407 Intellectual Developmental Disorder, X-Linked, Syndromic 11 25
1403 NRD141 Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities 25
1404 FND007 Faundes-Banka Syndrome 25
1405 c ALZ015 Alzheimer Disease 6 25
1406 c MNK006 Menke-Hennekam Syndrome 2 25
1407 c GLL041 Galloway-Mowat Syndrome 4 25
1408 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1409 c DYS120 Dyslexia 2 25
1410 P OCY002 Oocyte Maturation Defect 2 25
1411 NRD114 Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities 25
1412 SHR128 Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay 25
1413 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 25
1414 c CLR107 Ciliary Dyskinesia, Primary, 24 25
1415 c KNB005 Knobloch Syndrome 2 25
1416 HYP865 Hypogonadotropic Hypogonadism 25 with Anosmia 25
1417 c STS007 Sotos Syndrome 2 25
1418 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 24
1419 c LYS031 Loeys-Dietz Syndrome 6 24
1420 CMB100 Combined Oxidative Phosphorylation Deficiency 44 24
1421 c MYM003 Moyamoya Disease 5 24
1422 c PRX056 Peroxisome Biogenesis Disorder 11b 24
1423 c HYP882 Hypogonadotropic Hypogonadism 26 with or Without Anosmia 24
1424 CHR362 Chromosome 17q21.31 Duplication Syndrome 24
1425 c SCK037 Seckel Syndrome 9 24
1426 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1427 c ORF047 Orofacial Cleft 15 24
1428 CHR569 Chromosomal Duplication Syndrome 24
1429 c CNR027 Cone-Rod Dystrophy 17 24
1430 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
1431 NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 24
1432 c SCK038 Seckel Syndrome 10 24
1433 c ALZ061 Alzheimer Disease 15 24
1434 CMP063 Complement Factor B Deficiency 24
1435 c GLC054 Glaucoma 3, Primary Congenital, D 24
1436 c INF092 Inflammatory Bowel Disease 9 24
1437 c NNN038 Noonan Syndrome 14 24
1438 c DYS068 Dystonia 7, Torsion 24
1439 KHN002 Khan-Khan-Katsanis Syndrome 24
1440 c SLV031 Silver-Russell Syndrome 5 24
1441 AML013 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 24
1442 c PRC034 Preeclampsia/eclampsia 4 24
1443 CHR490 Chromosome 10q23 Deletion Syndrome 24
1444 CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 24
1445 P BRY006 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 24
1446 c MCK037 Meckel Syndrome 14 24
1447 ATN024 Autoinflammation, Immune Dysregulation, and Eosinophilia 24
1448 c DWL003 Dowling-Degos Disease 2 24
1449 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 24
1450 c TTH012 Tooth Agenesis, Selective, 3 24
1451 c AML050 Amelogenesis Imperfecta, Type if 24
1452 RBN013 Robinow-Sorauf Syndrome 24
1453 c JVN058 Juvenile-Onset Parkinson's Disease 24
1454 c INF074 Inflammatory Bowel Disease 15 24
1455 PRT130 Protein Z Deficiency 24
1456 c MTH083 Methemoglobinemia, Beta Type 24
1457 c DMN028 Diamond-Blackfan Anemia 12 24
1458 c DYS217 Dyskinesia with Orofacial Involvement, Autosomal Recessive 24
1459 MTC162 Mitochondrial Complex I Deficiency, Nuclear Type 15 24
1460 c HYP857 Hypothyroidism, Congenital, Nongoitrous, 8 24
1461 SHR131 Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies 24
1462 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 24
1463 c PSD121 Pseudo-Torch Syndrome 3 24
1464 FCT033 Factor Xiii, B Subunit, Deficiency of 24
1465 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 24
1466 c SYS081 Systemic Lupus Erythematosus 17 24
1467 c SCH082 Schizophrenia 5 24
1468 c CTR165 Cataract 19, Multiple Types 24
1469 P HRM021 Hair Morphology 2 24
1470 MCR366 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 24
1471 c 46X059 46,xx Sex Reversal 4 24
1472 c PRM292 Premature Ovarian Failure 14 24
1473 c SPS214 Spastic Ataxia 4 24
1474 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 24
1475 c CNG616 Congenital Heart Defects, Multiple Types, 7 24
1476 c DPH016 Diaphragmatic Hernia 3 24
1477 CTR107 Cataract 13 with Adult I Phenotype 24
1478 c AMY089 Amyotrophic Lateral Sclerosis 7 24
1479 c CLR139 Ciliary Dyskinesia, Primary, 39 24
1480 CMB115 Combined Oxidative Phosphorylation Deficiency 55 24
1481 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
1482 c DYS138 Dystonia 21 23
1483 MYP073 Myopia, High, with Cataract and Vitreoretinal Degeneration 23
1484 c PRM349 Premature Ovarian Failure 18 23
1485 INS015 Inosine Triphosphatase Deficiency 23
1486 LPS021 Lopes-Maciel-Rodan Syndrome 23
1487 CMB103 Combined Oxidative Phosphorylation Deficiency 47 23
1488 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 23
1489 c GLL053 Galloway-Mowat Syndrome 10 23
1490 c ALZ032 Alzheimer Disease 18 23
1491 XLN076 X-Linked Cerebellar Ataxia 23
1492 c AMY109 Amyotrophic Lateral Sclerosis Type 22 23
1493 c LDD008 Liddle Syndrome 2 23
1494 c ENC037 Encephalopathy, Acute, Infection-Induced 6 23
1495 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 23
1496 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 23
1497 c PRC045 Preeclampsia/eclampsia 5 23
1498 c CTR157 Cataract 28 23
1499 MYM015 Moyamoya Disease 6 with or Without Achalasia 23
1500 c MCR283 Microcephaly and Chorioretinopathy 2 23
1501 MTC176 Mitochondrial Complex I Deficiency, Nuclear Type 31 23
1502 P NNP004 Nonphotosensitive Trichothiodystrophy 23
1503 c SCH088 Schwannomatosis 2 23
1504 P HYP893 Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 23
1505 c PRM191 Premature Ovarian Failure 9 23
1506 NRD117 Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities 23
1507 c GLY001 Glycogen Storage Disease Ix 23
1508 c ORF016 Orofacial Cleft 8 23
1509 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
1510 c STS009 Sotos Syndrome 3 23
1511 c AGM028 Agammaglobulinemia 8b, Autosomal Recessive 23
1512 c RJB004 Rajab Interstitial Lung Disease with Brain Calcifications 2 23
1513 ZKS001 Zaki Syndrome 23
1514 ACC008 Accelerated Tumor Formation 23
1515 NRD128 Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities 23
1516 c ZMM003 Zimmermann-Laband Syndrome 2 23
1517 WBB001 Webb-Dattani Syndrome 23
1518 P ISL020 Isolated Microphthalmia 23
1519 CNZ012 Coenzyme Q10 Deficiency, Primary, 9 23
1520 c DYS219 Dystonia 33 23
1521 c 46X056 46,xy Sex Reversal 5 23
1522 c FNC049 Fanconi Renotubular Syndrome 3 23
1523 ALZ044 Alazami-Yuan Syndrome 23
1524 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1525 TWN007 Twinning, Dizygotic 23
1526 LYS024 Lysosomal and Lipase Deficiency 23
1527 GLL039 Galloway-Mowat Syndrome 2, X-Linked 23
1528 c ANG072 Angioedema, Hereditary, 4 23
1529 c BRY007 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 23
1530 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 23
1531 PLY167 Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive 23
1532 c MLG039 Malignant Essential Hypertension 23
1533 NRD137 Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities 23
1534 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 23
1535 c GLL047 Galloway-Mowat Syndrome 8 23
1536 c EPL136 Epilepsy, Childhood Absence 5 23
1537 c HYP871 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 23
1538 c DMN030 Diamond-Blackfan Anemia 13 23
1539 c SYN082 Syndromic X-Linked Intellectual Disability 14 23
1540 c BNM033 Bone Marrow Failure Syndrome 5 23
1541 c AGM027 Agammaglobulinemia 8a, Autosomal Dominant 23
1542 SLM004 Suleiman-El-Hattab Syndrome 23
1543 c DYS216 Dystonia 32 23
1544 P MCL058 Macular Degeneration, Early-Onset 23
1545 P HYP885 Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant 23
1546 SHR130 Short Stature, Dauber-Argente Type 22
1547 MTC219 Mitochondrial Complex Iv Deficiency, Nuclear Type 11 22
1548 ART135 Arthrogryposis, Perthes Disease, and Upward Gaze Palsy 22
1549 c DVL132 Developmental and Epileptic Encephalopathy 101 22
1550 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 22
1551 c SCK022 Sick Sinus Syndrome 3 22
1552 c MRT011 Martsolf Syndrome 2 22
1553 c SPS163 Spastic Ataxia 3 22
1554 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 22
1555 c ALZ060 Alzheimer Disease 14 22
1556 c AGM025 Agammaglobulinemia 9, Autosomal Recessive 22
1557 c HYP876 Hypertriglyceridemia 2 22
1558 c ATS376 Autism 15 22
1559 c ATS474 Autism 20 22
1560 c AML059 Amelogenesis Imperfecta, Type Ij 22
1561 c ATS369 Autism 8 22
1562 c EPL092 Epilepsy, Idiopathic Generalized 2 22
1563 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 22
1564 ALP088 Alpha-Fetoprotein, Hereditary Persistence of 22
1565 c ALZ031 Alzheimer Disease 17 22
1566 LKD024 Leukodystrophy and Acquired Microcephaly with or Without Dystonia 22
1567 c CLD017 Cold-Induced Sweating Syndrome 3 22
1568 c ATS438 Autosomal Recessive Spastic Ataxia 22
1569 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1570 c WHT015 White Sponge Nevus 2 22
1571 c ATR064 Atrioventricular Septal Defect 3 22
1572 CYN002 Cyanosis, Transient Neonatal 22
1573 c OCY004 Oocyte Maturation Defect 3 22
1574 c TRC127 Trichothiodystrophy 8, Nonphotosensitive 22
1575 c INF195 Inflammatory Bowel Disease 31, Autosomal Recessive 22
1576 ATN029 Autoinflammatory-Pancytopenia Syndrome 22
1577 c DVL124 Developmental and Epileptic Encephalopathy 97 22
1578 c HTR029 Heterotaxy, Visceral, 12, Autosomal 22
1579 NRD121 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 22
1580 ACT240 Actn3 Deficiency 22
1581 c CTR106 Cataract 20, Multiple Types 22
1582 c SYS040 Systemic Lupus Erythematosus 10 22
1583 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
1584 IMM245 Immunodeficiency 82 with Systemic Inflammation 22
1585 MTC203 Mitochondrial Complex I Deficiency, Nuclear Type 34 22
1586 c LKN034 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 22
1587 c LTH031 Lethal Congenital Contracture Syndrome 6 22
1588 c RTN148 Retinitis Pigmentosa 63 22
1589 KRY003 Kury-Isidor Syndrome 22
1590 P PRM176 Premature Ovarian Failure 2a 22
1591 MTC156 Mitochondrial Complex I Deficiency, Nuclear Type 8 22
1592 c CLR124 Ciliary Dyskinesia, Primary, 34 22
1593 NRD125 Neurodevelopmental Disorder with Seizures and Gingival Overgrowth 22
1594 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1595 CMB107 Combined Oxidative Phosphorylation Deficiency 51 22
1596 VNT039 Ventriculomegaly and Arthrogryposis 22
1597 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 22
1598 c NRC017 Narcolepsy 7 22
1599 c DYS214 Dystonia 31 22
1600 c EPL137 Epilepsy, Childhood Absence 6 22
1601 NCT013 N-Acetylaspartate Deficiency 22
1602 c CNG618 Congenital Nystagmus 1 22
1603 c HYP712 Hypercalcemia, Infantile, 2 22
1604 CMP091 Complement Component C1s Deficiency 22
1605 IMM266 Immunodeficiency 96 22
1606 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 22
1607 MTC214 Mitochondrial Complex I Deficiency, Nuclear Type 35 22
1608 IMM260 Immunodeficiency 91 and Hyperinflammation 22
1609 c DVL121 Developmental and Epileptic Encephalopathy 96 22
1610 c SYS038 Systemic Lupus Erythematosus 2 22
1611 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
1612 c KRT075 Keratoconus 9 22
1613 ERY039 Erythrocyte Amp Deaminase Deficiency 22
1614 c SPS233 Spastic Ataxia 9, Autosomal Recessive 22
1615 c PST001 Posterior Myocardial Infarction 22
1616 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 22
1617 MTC232 Mitochondrial Complex I Deficiency, Nuclear Type 37 22
1618 c PRV016 Periventricular Nodular Heterotopia 6 22
1619 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 22
1620 c GLC089 Glaucoma 3, Primary Congenital, E 22
1621 c ENC063 Encephalopathy, Acute, Infection-Induced 7 22
1622 c HYP858 Hypothyroidism, Congenital, Nongoitrous, 9 22
1623 c DVL134 Developmental and Epileptic Encephalopathy 102 22
1624 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1625 c MRR010 Mirror Movements 2 21
1626 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
1627 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1628 c RST026 Restrictive Dermopathy 2 21
1629 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 21
1630 ATX038 Ataxia and Polyneuropathy, Adult-Onset 21
1631 c HLP022 Holoprosencephaly 8 21
1632 c PRG138 Paragangliomas 7 21
1633 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1634 CMB098 Combined Oxidative Phosphorylation Deficiency 42 21
1635 c PRM255 Premature Ovarian Failure 12 21
1636 c RTS004 Ritscher-Schinzel Syndrome 3 21
1637 c DVL135 Developmental and Epileptic Encephalopathy 103 21
1638 c STC020 Stickler Syndrome, Type Vi 21
1639 MTC233 Mitochondrial Complex Iv Deficiency, Nuclear Type 22 21
1640 CHT005 Chitotriosidase Deficiency 21
1641 NRF027 Neurofacioskeletal Syndrome with or Without Renal Agenesis 21
1642 BDN003 Boudin-Mortier Syndrome 21
1643 c CLD022 Cleidocranial Dysplasia 2 21
1644 MTC161 Mitochondrial Complex I Deficiency, Nuclear Type 14 21
1645 c NRD152 Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies 21
1646 HYP645 Hyperthyroxinemia, Dystransthyretinemic 21
1647 c NNP017 Nanophthalmos 1 21
1648 MTC201 Mitochondrial Complex V Deficiency, Nuclear Type 6 21
1649 c MYC058 Myocardial Infarction 2 21
1650 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 21
1651 ACT133 Acetylation, Slow 21
1652 YNB001 Yoon-Bellen Neurodevelopmental Syndrome 21
1653 c KMT002 Kmt2b-Related Dystonia 21
1654 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 21
1655 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
1656 c CTR144 Cataract 43 21
1657 c STV011 Stuve-Wiedemann Syndrome 2 21
1658 c PRT135 Protoporphyria, Erythropoietic, 2 21
1659 VNT040 Ventricular Arrhythmias Due to Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome 21
1660 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 21
1661 c ENC062 Encephalopathy, Acute, Infection-Induced 5 21
1662 P PRM016 Primary Optic Atrophy 21
1663 TTN002 Tetanic Cataract 21
1664 INT481 Intellectual Disability and Myopathy Syndrome 21
1665 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 21
1666 c DVL141 Developmental and Epileptic Encephalopathy 106 21
1667 c INF087 Inflammatory Bowel Disease 4 21
1668 c CRN328 Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2 21
1669 c DWL004 Dowling-Degos Disease 4 21
1670 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 21
1671 ADN039 Adenosine Triphosphate, Elevated, of Erythrocytes 21
1672 DVL126 Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities 21
1673 VTR011 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 21
1674 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 21
1675 CMB097 Combined Oxidative Phosphorylation Deficiency 41 21
1676 c BRC080 Brachydactyly, Type A1, B 21
1677 CRT003 Cortical Senile Cataract 21
1678 c OVR127 Ovarian Dysgenesis 9 21
1679 c DYS223 Dystonia 28 21
1680 c INF090 Inflammatory Bowel Disease 7 20
1681 c DMN040 Diamond-Blackfan Anemia 16 20
1682 c HYP573 Hypotrichosis 5 20
1683 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
1684 HYN001 Heyn-Sproul-Jackson Syndrome 20
1685 c OPT059 Optic Atrophy 4 20
1686 c ATS378 Autism 17 20
1687 c CTR159 Cataract 35 20
1688 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1689 LKD036 Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy 20
1690 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 20
1691 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 20
1692 c GLL052 Galloway-Mowat Syndrome 9 20
1693 c DVL136 Developmental and Epileptic Encephalopathy 104 20
1694 c HYP883 Hypogonadotropic Hypogonadism 27 Without Anosmia 20
1695 NRD155 Neurodevelopmental Disorder with Hypotonia, Impaired Speech, and Behavioral Abnormalities 20
1696 c PRM295 Premature Ovarian Failure 15 20
1697 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 20
1698 c WRD034 Waardenburg Syndrome, Type 2f 20
1699 MTC148 Mitochondrial Complex I Deficiency, Nuclear Type 30 20
1700 c ANR046 Aniridia 3 20
1701 c SLV030 Silver-Russell Syndrome 4 20
1702 c HYP886 Hypoalphalipoproteinemia, Primary, 2, Intermediate 20
1703 c ENC072 Encephalopathy, Acute, Infection-Induced 10 20
1704 SPN422 Spondyloepimetaphyseal Dysplasia, Di Rocco Type 20
1705 c ORF049 Orofacial Cleft 3 20
1706 c AGM026 Agammaglobulinemia 10, Autosomal Dominant 20
1707 c LFT020 Left Ventricular Noncompaction 7 20
1708 HYP659 Hypomyelinating Leukoencephalopathy 20
1709 c ATM050 Autoimmune Thyroid Disease 3 20
1710 c ANG073 Angioedema, Hereditary, 5 20
1711 ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 20
1712 NRD153 Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities 20
1713 RHZ016 Rhizomelic Limb Shortening with Dysmorphic Features 20
1714 c ORF050 Orofacial Cleft 2 20
1715 c PLY144 Polydactyly, Postaxial, Type A7 20
1716 c ANG074 Angioedema, Hereditary, 6 20
1717 MCR381 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 20
1718 c PSR022 Psoriasis 15, Pustular 20
1719 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
1720 TTH014 Tooth Agenesis, Selective, X-Linked, 1 20
1721 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 20
1722 c ATS377 Autism 16 20
1723 P URC014 Uric Acid Concentration, Serum, Quantitative Trait Locus 1 20
1724 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 20
1725 c HYD070 Hydrocephalus, Congenital Communicating, 1 20
1726 c DMN039 Diamond-Blackfan Anemia 17 20
1727 c DYS220 Dystonia 34, Myoclonic 20
1728 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 20
1729 c INF080 Inflammatory Bowel Disease 21 20
1730 c PRK025 Parkinson Disease 10 20
1731 MTC202 Mitochondrial Complex Iii Deficiency, Nuclear Type 10 20
1732 SPN457 Spondylometaphyseal Dysplasia, Pagnamenta Type 20
1733 MTC216 Mitochondrial Complex Iv Deficiency, Nuclear Type 7 20
1734 c HLP034 Holoprosencephaly 14 20
1735 ANN009 Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 20
1736 c PRM378 Premature Ovarian Failure 20 20
1737 MCR388 Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, and Persistent Fetal Hemoglobin 20
1738 ATN030 Autoinflammatory Disease, Systemic, X-Linked 20
1739 GRW045 Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies 20
1740 c ANN021 Anencephaly 2 20
1741 c DMN047 Diamond-Blackfan Anemia 18 20
1742 c PRK058 Parkinson Disease 16 20
1743 c HTR028 Heterotaxy, Visceral, 11, Autosomal, with Male Infertility 20
1744 c VSC068 Visceral Neuropathy, Familial, 3, Autosomal Dominant 20
1745 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 20
1746 c 46X050 46,xx Sex Reversal 3 19
1747 CMB114 Combined Oxidative Phosphorylation Deficiency 54 19
1748 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 19
1749 OPH021 Ophthalmoplegia, External, with Rib and Vertebral Anomalies 19
1750 c TRC128 Trichothiodystrophy 9, Nonphotosensitive 19
1751 DGN006 Digenic Disease 19
1752 c SYS041 Systemic Lupus Erythematosus 9 19
1753 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1754 CMB090 Combined Oxidative Phosphorylation Deficiency 38 19
1755 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 19
1756 c CLR147 Ciliary Dyskinesia, Primary, 46 19
1757 c EPL247 Epilepsy, Idiopathic Generalized 16 19
1758 CHR385 Chromosome 2q31.2 Deletion Syndrome 19
1759 SLF020 Sulfide:quinone Oxidoreductase Deficiency 19
1760 c DYS058 Dystonia 15, Myoclonic 19
1761 c DVL142 Developmental and Epileptic Encephalopathy 107 19
1762 c MLT120 Multiple Fibroadenomas of the Breast 19
1763 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 19
1764 CMP040 Complement Component 4, Partial Deficiency of 19
1765 CMB111 Combined Oxidative Phosphorylation Deficiency 52 19
1766 c INF081 Inflammatory Bowel Disease 22 19
1767 OKT001 Okt4 Epitope Deficiency 19
1768 P RDC010 Reducing Body Myopathy 19
1769 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
1770 c LDD009 Liddle Syndrome 3 19
1771 ALP072 Alpha-Fetoprotein Deficiency 19
1772 MCR369 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 19
1773 c ART175 Arthrogryposis, Distal, Type 11 19
1774 c MCR391 Microcephaly 29, Primary, Autosomal Recessive 19
1775 c CLR141 Ciliary Dyskinesia, Primary, 41 19
1776 NRD143 Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay 19
1777 c ANG076 Angioedema, Hereditary, 8 19
1778 c LFT011 Left Ventricular Noncompaction 2 19
1779 c TTH026 Tooth Agenesis, Selective, 7 19
1780 c PRM348 Premature Ovarian Failure 17 19
1781 AML058 Amelogenesis Imperfecta, Hypomaturation Type, Iia6 19
1782 MYP170 Myopathy, Congenital, Nonprogressive 19
1783 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 19
1784 c PLY178 Polydactyly, Postaxial, Type A8 19
1785 c EPL260 Epilepsy, Idiopathic Generalized 18 19
1786 c ANM079 Anemia, Sideroblastic, 5 19
1787 c MRR015 Mirror Movements 4 19
1788 c UNC019 Uncombable Hair Syndrome 2 19
1789 c DMN050 Diamond-Blackfan Anemia 21 19
1790 VRT018 Vertebral Hypersegmentation and Orofacial Anomalies 19
1791 c OVR118 Ovarian Dysgenesis 6 18
1792 XLN191 X-Linked Hereditary Ataxia 18
1793 c DMN048 Diamond-Blackfan Anemia 19 18
1794 c PRG093 Pregnancy Loss, Recurrent 3 18
1795 c TTH027 Tooth Agenesis, Selective, 8 18
1796 c CRN174 Coronary Heart Disease 2 18
1797 AML039 Amelogenesis Imperfecta, Hypomaturation Type, Iia4 18
1798 c CRY039 Carey-Fineman-Ziter Syndrome 2 18
1799 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 18
1800 c NNS071 Nonsyndromic Congenital Nail Disorder 18
1801 MTC218 Mitochondrial Complex Iv Deficiency, Nuclear Type 10 18
1802 c OCY006 Oocyte Maturation Defect 5 18
1803 FCL086 Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction 18
1804 P HYP284 Hypospadias 1, X-Linked 18
1805 CMB106 Combined Oxidative Phosphorylation Deficiency 50 18
1806 c SCK050 Sick Sinus Syndrome 4 18
1807 BRB005 Birbeck Granule Deficiency 18
1808 IFP003 Ifap Syndrome 2 18
1809 c KRT040 Keratoconus 3 18
1810 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 18
1811 STR099 Striatonigral Degeneration, Infantile, Mitochondrial 18
1812 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
1813 c SRC024 Sarcoidosis 3 18
1814 MYT001 Myotonic Cataract 18
1815 c OCY007 Oocyte Maturation Defect 6 18
1816 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
1817 ARS003 Aarskog Syndrome, Autosomal Dominant 18
1818 c PLY184 Polydactyly, Postaxial, Type A10 18
1819 c MCR386 Microcephaly 28, Primary, Autosomal Recessive 18
1820 c KRT050 Keratoconus 5 18
1821 c CRN178 Coronary Heart Disease 6 18
1822 c CRD263 Cardiac Valvular Dysplasia 2 18
1823 TRP029 Triphalangeal Thumb with Polysyndactyly 18
1824 c LPR017 Leprosy 5 18
1825 c ATS371 Autism 6 18
1826 c OVR128 Ovarian Dysgenesis 10 18
1827 CRN210 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 18
1828 ATM059 Autoimmune Disease 6 18
1829 c SYS065 Systemic Lupus Erythematosus 11 18
1830 c NNS073 Non-Syndromic X-Linked Intellectual Disability 2 18
1831 OCL077 Oculopharyngeal Myopathy with Leukoencephalopathy 1 18
1832 c DPH025 Diaphragmatic Hernia 2 18
1833 c HYD068 Hydatidiform Mole, Recurrent, 4 18
1834 c SPS229 Spastic Ataxia 8 18
1835 c TTH025 Tooth Agenesis, Selective, 9 18
1836 c PRM344 Premature Ovarian Failure 16 18
1837 c KRT053 Keratoconus 7 18
1838 c MCR385 Microcephaly, Epilepsy, and Diabetes Syndrome 2 17
1839 MTC221 Mitochondrial Complex Iv Deficiency, Nuclear Type 14 17
1840 c TYP037 Type 1 Diabetes Mellitus 13 17
1841 c NNS019 Nonsyndromic Holoprosencephaly 17
1842 CHR494 Chromosome 15q25 Deletion Syndrome 17
1843 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1844 c ANG075 Angioedema, Hereditary, 7 17
1845 CRB229 Cerebellar Dysfunction, Impaired Intellectual Development, and Hypogonadotropic Hypogonadism 17
1846 c PRK084 Porokeratosis 6, Multiple Types 17
1847 c KRT052 Keratoconus 6 17
1848 c SYN040 Synpolydactyly 3 17
1849 c ORF031 Orofacial Cleft 14 17
1850 c PLY101 Polydactyly, Postaxial, Type A6 17
1851 c PRG096 Pregnancy Loss, Recurrent 2 17
1852 LKN031 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 17
1853 c INF091 Inflammatory Bowel Disease 8 17
1854 c INF084 Inflammatory Bowel Disease 26 17
1855 c EPL208 Epilepsy, Idiopathic Generalized 8 17
1856 MTC225 Mitochondrial Complex Iv Deficiency, Nuclear Type 18 17
1857 CHR503 Chromosome 22q13 Duplication Syndrome 17
1858 c OCY008 Oocyte Maturation Defect 7 17
1859 SKL035 Skeletal Defects, Genital Hypoplasia, and Impaired Intellectual Development 17
1860 c CNG621 Congenital Myasthenic Syndrome 7 17
1861 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 17
1862 c PRT254 Proteasome-Associated Autoinflammatory Syndrome 5 17
1863 c SPS162 Spastic Ataxia 1 17
1864 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
1865 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 17
1866 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 17
1867 c AML056 Amelogenesis Imperfecta, Type Iiib 17
1868 CMP081 Camptosynpolydactyly, Complex 17
1869 c CRN177 Coronary Heart Disease 7 17
1870 SDD010 Sudden Cardiac Failure, Alcohol-Induced 17
1871 c DYS125 Dyslexia 8 17
1872 c ERL044 Early-Onset Posterior Polar Cataract 16
1873 MCC013 Mucocutaneous Ulceration, Chronic 16
1874 c CNG433 Congenital Cornea Plana 16
1875 c PLY182 Polydactyly, Postaxial, Type A9 16
1876 c KLP012 Klippel-Feil Syndrome 1 16
1877 c NNS086 Non-Syndromic X-Linked Intellectual Disability 91 16
1878 c PRK022 Parkinson Disease 12 16
1879 c UNC018 Uncombable Hair Syndrome 3 16
1880 c OCY013 Oocyte Maturation Defect 12 16
1881 EXR006 Exercise Intolerance, Riboflavin-Responsive 16
1882 FRG019 Ferguson-Bonni Neurodevelopmental Syndrome 16
1883 CMB102 Combined Oxidative Phosphorylation Deficiency 46 16
1884 c OCY010 Oocyte Maturation Defect 9 16
1885 c OCY009 Oocyte Maturation Defect 8 16
1886 TRN072 Transferrin Serum Level Quantitative Trait Locus 2 16
1887 CMB105 Combined Oxidative Phosphorylation Deficiency 49 16
1888 c ATS170 Autism 19 16
1889 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 16
1890 c HYP270 Hypospadias 2, X-Linked 16
1891 c PRT113 Parietal Foramina 3 16
1892 c EPL090 Epilepsy, Idiopathic Generalized 5 16
1893 c ATS372 Autism 7 16
1894 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
1895 THY115 Thyroxine-Binding Globulin Quantitative Trait Locus 16
1896 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 16
1897 P BRD055 Braddock-Carey Syndrome 1 16
1898 URD003 Uridine-Cytidineuria 16
1899 c CRN172 Coronary Heart Disease 3 16
1900 CHR365 Chromosome 2q31.1 Duplication Syndrome 15
1901 c ATS374 Autism 12 15
1902 c MRR012 Mirror Movements 3 15
1903 c HYP551 Hypotrichosis 9 15
1904 c KRT054 Keratoconus 8 15
1905 c KRT039 Keratoconus 2 15
1906 DYS218 Dystonia, Early-Onset, and/or Spastic Paraplegia 15
1907 c HYP544 Hypotrichosis 10 15
1908 c ORF029 Orofacial Cleft 13 15
1909 c OCY011 Oocyte Maturation Defect 10 15
1910 c LPR016 Leprosy 4 15
1911 c AML063 Amelogenesis Imperfecta Type 2a1 15
1912 c ATS171 Autism 9 15
1913 c ATS172 Autism 10 15
1914 SPN406 Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 15
1915 c ADL100 Adult-Onset Severe Asthma 15
1916 MTC149 Mitochondrial Complex I Deficiency, Mitochondrial Type 1 15
1917 c BCT019 Bacteremia 1 15
1918 c KLP015 Klippel-Feil Syndrome 4 15
1919 RHZ017 Rhizomelic Dysplasia, Ain-Naz Type 15
1920 c INF136 Influenza, Severe 14
1921 HYP668 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome 14
1922 c AST057 Asthma-Related Traits 5 14
1923 c ATS373 Autism 11 14
1924 c MTH084 Methemoglobinemia, Alpha Type 14
1925 c ACQ036 Acquired Angioedema Type 2 14
1926 c ATS375 Autism 13 14
1927 c CRN175 Coronary Heart Disease 4 14
1928 P TRS005 Torsion Dystonia with Onset in Infancy 14
1929 c MCR284 Microcephaly and Chorioretinopathy 3 14
1930 c GLL043 Galloway-Mowat Syndrome 2 14
1931 c BRD056 Braddock-Carey Syndrome 2 14
1932 c ATT025 Attention Deficit-Hyperactivity Disorder 8 14
1933 INC030 Increased Analgesia from Kappa-Opioid Receptor Agonist, Female-Specific 14
1934 c ART171 Arthrogryposis Multiplex Congenita-3 14
1935 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
1936 c OCY012 Oocyte Maturation Defect 11 14
1937 P FRS017 Fraser-Like Syndrome 14
1938 c CRN173 Coronary Heart Disease 8 14
1939 c URC015 Uric Acid Concentration, Serum, Quantitative Trait Locus 4 14
1940 c ATM056 Autoimmune Thyroid Disease 1 14
1941 P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 14
1942 c ORF020 Orofacial Cleft 12 14
1943 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
1944 c NNS085 Non-Syndromic X-Linked Intellectual Disability 90 13
1945 c NNS076 Non-Syndromic X-Linked Intellectual Disability 58 13
1946 c KRT041 Keratoconus 4 13
1947 c RRC022 Rare Chromosomal Anomaly 13
1948 c NNS094 Non-Syndromic X-Linked Intellectual Disability 72 13
1949 c CRN176 Coronary Heart Disease 9 13
1950 c DVL148 Developmental and Epileptic Encephalopathy 108 13
1951 c ART170 Arthrogryposis Multiplex Congenita-1 13
1952 c MCR185 Macrodactyly of Toes 13
1953 c NNP008 Nanophthalmos 3 13
1954 c HYD042 Hydrocephalus, Autosomal Dominant 13
1955 EPL262 Epilepsy, X-Linked 2, with or Without Impaired Intellectual Development and Dysmorphic Features 13
1956 c ORF024 Orofacial Cleft 9 13
1957 c TTH011 Tooth Agenesis, Selective, 2 13
1958 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
1959 c SYN050 Syndactyly Type 6 13
1960 GLC077 Glucocorticoid Therapy, Response to 13
1961 c AML067 Amelogenesis Imperfecta, Type Ik 13
1962 c DWL005 Dowling-Degos Disease 3 13
1963 PLS035 Plasma Triglyceride Level Quantitative Trait Locus 13
1964 HRD193 Hereditary Alpha Tryptasemia Syndrome 13
1965 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
1966 c DYS122 Dyslexia 3 13
1967 GLY102 Glycerol Quantitative Trait Locus 13
1968 P HGH038 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 13
1969 c INT382 Intermediate Atrioventricular Septal Defect 12
1970 c VPS003 Vps35-Related Parkinson Disease 12
1971 c CNG253 Congenital Communicating Hydrocephalus 12
1972 P FST017 Fasting Plasma Glucose Level Quantitative Trait Locus 5 12
1973 c THY119 Thyrotoxic Periodic Paralysis 3 12
1974 c MYM005 Moyamoya Disease 3 12
1975 c ATM057 Autoimmune Thyroid Disease 2 12
1976 c ART172 Arthrogryposis Multiplex Congenita-4 12
1977 c VNB003 Van Buchem Disease Type 2 12
1978 c FST012 Fasting Plasma Glucose Level Quantitative Trait Locus 1 11
1979 c EPB003 Epb42-Related Hereditary Spherocytosis 11
1980 c GRN068 Grin2d-Related Developmental and Epileptic Encephalopathy 11
1981 c TTH017 Tooth Agenesis, Selective, 5 11
1982 BTG003 Beta-Glucopyranoside Tasting 11
1983 C3H001 C3hex, Ability to Smell 11
1984 P LWD006 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 11
1985 P HYP772 Hypermetabolism Due to Defect in Mitochondria 11
1986 c NNS081 Non-Syndromic X-Linked Intellectual Disability 81 11
1987 c GLM038 Glioma Susceptibility 7 11
1988 c BNG034 Benign Secondary Hypertension 11
1989 c DYS124 Dyslexia 6 11
1990 c HGH039 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12 11
1991 c HRM022 Hair Morphology 1 11
1992 LTH044 Lutheran Null 11
1993 c KLP013 Klippel-Feil Syndrome 3 11
1994 c DVL151 Developmental and Epileptic Encephalopathy 110 11
1995 c HYP447 Hypertension, Essential 1 11
1996 c DYS225 Dyskeratosis Congenita, Autosomal Recessive 8 11
1997 CHR384 Chromosome 2p12-P11.2 Deletion Syndrome 11
1998 c HYP452 Hypertension, Essential 6 11
1999 c HYP449 Hypertension, Essential 3 11
2000 c LWD007 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 11
2001 c ATM058 Autoimmune Thyroid Disease 4 11
2002 c DYS222 Dystonia 35, Childhood-Onset 11
2003 c PRC032 Preeclampsia/eclampsia 2 11
2004 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 10
2005 CRN326 Corneal Dystrophy, Punctiform and Polychromatic Pre-Descemet 10
2006 RCM006 Recombination Rate Quantitative Trait Locus 1 10
2007 c DYS123 Dyslexia 5 10
2008 c DVL150 Developmental and Epileptic Encephalopathy 109 10
2009 c FNC067 Fanconi Renotubular Syndrome 4 10
2010 c ATS423 Autosomal Dominant Wolfram Syndrome 10
2011 c HYP448 Hypertension, Essential 2 10
2012 c HYP450 Hypertension, Essential 4 10
2013 FCS013 Fucosyltransferase 6 Deficiency 10
2014 c PRC033 Preeclampsia/eclampsia 3 10
2015 ECL002 Eculizumab, Poor Response to 10
2016 SDM005 Sodium Serum Level Quantitative Trait Locus 1 10
2017 c DYS126 Dyslexia 9 10
2018 MMR005 Memory Quantitative Trait Locus 10
2019 c RRN022 Rare Inflammatory Bowel Disease 10
2020 c MSC205 Mosaic Variegated Aneuploidy Syndrome 4 10
2021 c NNS074 Non-Syndromic X-Linked Intellectual Disability 19 9
2022 c HYP451 Hypertension, Essential 5 9
2023 P HRN027 Hernia, Anterior Diaphragmatic 9
2024 c RRD039 Rare Dystonia 9
2025 c ISC021 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 9
2026 c HGH033 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1 9
2027 c HYP454 Hypertension, Essential 8 9
2028 c HYP453 Hypertension, Essential 7 9
2029 c ATS437 Autosomal Dominant Spastic Ataxia 9
2030 P MCR048 Microcephaly Chorioretinopathy Recessive Form 9
2031 c CNG628 Congenital Disorder of Glycosylation Iw 9
2032 c FST013 Fasting Plasma Glucose Level Quantitative Trait Locus 2 9
2033 SLB002 Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus 8
2034 INT325 Interleukin 6, Serum Level of, Quantitative Trait Locus 8
2035 c ACQ035 Acquired Angioedema Type 1 8
2036 c LWD008 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 8
2037 P RRT025 Rare Thyroid Disease 8
2038 ASP035 Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 8
2039 c FST015 Fasting Plasma Glucose Level Quantitative Trait Locus 6 8
2040 c HGH035 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3 8
2041 MYP171 Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or Without Episodic Rhabdomyolysis 8
2042 P ATS499 Autosomal Dominant Familial Visceral Neuropathy 8
2043 IMP012 Impdh2 Enzyme Activity, Variation in 8
2044 c HYP894 Hypermetabolism Due to Uncoupled Mitochondrial Oxidative Phosphorylation 2 8
2045 MTC238 Mitochondrial Complex I Deficiency, Nuclear Type 39 8
2046 c FST014 Fasting Plasma Glucose Level Quantitative Trait Locus 3 8
2047 c HGH032 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 7
2048 c HYP653 Hypospadias 4, X-Linked 7
2049 c ADP009 Adiponectin, Serum Level of, Quantitative Trait Locus 3 7
2050 c ADP008 Adiponectin, Serum Level of, Quantitative Trait Locus 2 7
2051 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
2052 c FST016 Fasting Plasma Glucose Level Quantitative Trait Locus 4 7
2053 c LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 7
2054 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 7
2055 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 7
2056 c RRD010 Rare Disease with Autism 7
2057 c HGH042 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 7
2058 c ADP011 Adiponectin, Serum Level of, Quantitative Trait Locus 4 7
2059 P DSR041 Disorder of Multiple Glycosylation 6
2060 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 6
2061 MTC239 Mitochondrial Complex Iii Deficiency, Nuclear Type 11 6
2062 c ADP012 Adiponectin, Serum Level of, Quantitative Trait Locus 5 6
2063 CMB116 Combined Oxidative Phosphorylation Deficiency 56 6
2064 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
2065 c AGM030 Agammaglobulinemia 8a 6
2066 c NNS079 Non-Syndromic X-Linked Intellectual Disability 84 6
2067 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 6
2068 c ACQ064 Acquired Premature Ovarian Failure 6
2069 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 6
2070 c NNS091 Non-Syndromic X-Linked Intellectual Disability 88 6
2071 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 6
2072 c PRX100 Proximal Symphalangism 2 6
2073 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
2074 c URC017 Uric Acid Concentration, Serum, Quantitative Trait Locus 6 6
2075 c URC016 Uric Acid Concentration, Serum, Quantitative Trait Locus 5 6
2076 c HGH036 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 4 6
2077 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
2078 c SPS172 Spastic Ataxia 7 5
2079 c PRX099 Proximal Symphalangism 1 5
2080 c HGH034 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2 5
2081 c HGH037 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 5 5
2082 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
2083 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 4
2084 c RDC017 Reducing Body Myopathy 1a 4
2085 c RDC018 Reducing Body Myopathy 1b 4
2086 c ALP111 Alpi-Related Inflammatory Bowel Disease 4
2087 c XND001 X and Y Chromosomal Anomaly 4
2088 c CRN093 Craniosynostosis Autosomal Dominant 4
2089 CHR705 Chromosome 16p12.1 Deletion Syndrome 4
2090 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
2091 c HYD017 Hydrocephalus Autosomal Recessive 3
2092 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 3
2093 ATS478 Autosomal Recessive Congenital Bilateral Absence of Vas Deferens 3
2094 ADN058 Adenylosuccinase Lyase Deficiency 3
2095 RHZ020 Rhizomelic Chondrodysplasia Punctate Type 4 2
2096 INT304 Interstitial Pneumonitis, Desquamative, Familial 45
2097 OST150 Osteodysplasia, Familial, Anderson Type 19
2098 DYS182 Dysphasia, Familial Developmental 38
2099 P PGT001 Paget's Disease of Bone 59
2100 SCH072 Scheuermann Disease 45
2101 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 45
2102 c EXD010 Exudative Vitreoretinopathy 6 29
2103 FML211 Familial Papillary or Follicular Thyroid Carcinoma 27
2104 P FML048 Familial Avascular Necrosis of the Femoral Head 26
2105 c EXD007 Exudative Vitreoretinopathy 3 25
2106 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 19
2107 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 16
2108 P OVR042 Ovarian Cancer 89
2109 ATY005 Atypical Teratoid Rhabdoid Tumor 66
2110 c OVR114 Ovarian Cancer 1 65
2111 FML063 Familial Glucocorticoid Deficiency 57
2112 c FML353 Familial Ovarian Cancer 40
2113 THM023 Thiemann Disease 24
2114 c CRD057 Cardiomyopathy, Familial Restrictive, 2 20
2115 RNX001 Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies 15
2116 DSM004 Desmoid Tumor 67
2117 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 18
2118 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
2119 THR043 Thrombomodulin Anomalies, Familial 8
2120 P MLN008 Melanoma 74
2121 VLV047 Volvulus of Midgut 59
2122 P MLT074 Multiple Endocrine Neoplasia 57
2123 HRT015 Heritable Pulmonary Arterial Hypertension 45
2124 P PLN008 Peeling Skin Syndrome 43
2125 c HRD223 Hereditary Melanoma 37
2126 FML304 Familial Isolated Dilated Cardiomyopathy 35
2127 HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
2128 P KDN018 Kidney Disease 75
2129 c CHR684 Chronic Kidney Disease 74
2130 c ACT071 Acute Kidney Failure 61
2131 PMP006 Pemphigus Vulgaris, Familial 59
2132 IGG007 Igg4-Related Disease 50
2133 GST095 Gastritis, Familial Giant Hypertrophic 45
2134 P RNL015 Renal Hypertension 43
2135 GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 41
2136 P BLN001 Blount's Disease 38
2137 c RNL113 Renal Failure, Progressive, with Hypertension 32
2138 NCH001 Nuchal Bleb, Familial 31
2139 FML293 Familial Isolated Restrictive Cardiomyopathy 28
2140 BLD065 Blue Diaper Syndrome 24
2141 c RNL016 Renal Infectious Disease 21
2142 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 19
2143 APM002 Aapoai Amyloidosis 18
2144 MCR337 Microtia with Meatal Atresia and Conductive Deafness 17
2145 APM001 Aapoaii Amyloidosis 17
2146 c BLN020 Blount Disease, Infantile 17
2147 HYP692 Hypersensitivity Pneumonitis, Familial 15
2148 c RNR002 Ren-Related Kidney Disease 7
2149 c ART144 Arthrogryposis, Distal, Type 1a 65
2150 P DST002 Distal Arthrogryposis 61
2151 c ART061 Arthrogryposis, Distal, Type 2a 60
2152 c ART119 Arthrogryposis, Distal, Type 5 53
2153 c ART147 Arthrogryposis, Distal, Type 7 48
2154 c ART104 Arthrogryposis, Distal, Type 5d 43
2155 c ART112 Arthrogryposis, Distal, Type 10 37
2156 c ART168 Arthrogryposis, Distal, Type 1c 35
2157 ACT164 Actinic Prurigo 28
2158 c ART128 Arthrogryposis, Distal, Type 6 27
2159 c ART131 Arthrogryposis, Distal, Type 4 27
2160 FBR088 Fibromatosis, Gingival, with Progressive Deafness 25
2161 c ART054 Arthrogryposis, Distal, Type 2e 18
2162 PRL009 Prolactinoma 63
2163 P HRD021 Hereditary Sensory Neuropathy 54
2164 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 54
2165 P RST002 Restrictive Cardiomyopathy 53
2166 FLT011 Felty Syndrome 53
2167 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 42
2168 c NRP039 Neuropathy, Hereditary Sensory, Type Id 41
2169 CHR525 Chromosome Xq26.3 Duplication Syndrome 36
2170 FML292 Familial Drusen 33
2171 c NRP036 Neuropathy, Hereditary Sensory, Type if 29
2172 c PRS117 Prostate Cancer, Hereditary, 11 24
2173 P PRM145 Primary Anetoderma 17
2174 ZRS001 Zori Stalker Williams Syndrome 17
2175 P PRM375 Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 16
2176 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 16
2177 c FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 15
2178 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
2179 c FML205 Familial Anetoderma 14
2180 P FML354 Familial Nonmedullary Thyroid Carcinoma 14
2181 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
2182 c THR092 Thrombophilia Due to Thrombin Defect 76
2183 P HYP061 Hypertrophic Cardiomyopathy 69
2184 PRM236 Primary Biliary Cholangitis 62
2185 c HYD046 Hydatidiform Mole, Recurrent, 1 60
2186 BNG009 Benign Epilepsy with Centrotemporal Spikes 59
2187 CLL010 Cellular Ependymoma 59
2188 P HMP002 Hemophagocytic Lymphohistiocytosis 59
2189 c THR082 Thrombophilia Due to Activated Protein C Resistance 59
2190 P ERY008 Erythromelalgia 58
2191 P ISL078 Isolated Ectopia Lentis 58
2192 MCL027 Macular Dystrophy, Dominant Cystoid 56
2193 P ALL008 Allergic Bronchopulmonary Aspergillosis 55
2194 P DRM007 Dermatitis Herpetiformis 55
2195 P DST107 Distal Renal Tubular Acidosis 55
2196 DNB001 Danubian Endemic Familial Nephropathy 53
2197 P PRV002 Periventricular Nodular Heterotopia 52
2198 P THR015 Thrombophilia 52
2199 DDN011 Duodenal Atresia 51
2200 ARC002 Arachnoiditis 51
2201 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 51
2202 c DFN097 Deafness, Autosomal Recessive 1a 51
2203 c JVN041 Juvenile Nephronophthisis 49
2204 c DFN250 Deafness, Autosomal Recessive 2 48
2205 c DFN133 Deafness, Autosomal Recessive 9 48
2206 c DFN141 Deafness, Autosomal Recessive 12 47
2207 c DFN136 Deafness, Autosomal Dominant 9 46
2208 c DFN251 Deafness, Autosomal Dominant 11 46
2209 c DFN196 Deafness, Autosomal Dominant 22 45
2210 c DFN200 Deafness, Autosomal Dominant 17 44
2211 P DPY001 Dupuytren Contracture 44
2212 c DFN197 Deafness, Autosomal Recessive 37 43
2213 c DFN247 Deafness, Autosomal Recessive 18a 42
2214 c DFN128 Deafness, Autosomal Dominant 36 42
2215 c DFN093 Deafness, Autosomal Recessive 23 42
2216 c DFN189 Deafness, Autosomal Dominant 25 42
2217 c DFN103 Deafness, Autosomal Recessive 1b 41
2218 c DFN139 Deafness, Autosomal Recessive 29 41
2219 c DFN203 Deafness, Autosomal Recessive 30 41
2220 c DFN112 Deafness, Autosomal Recessive 63 41
2221 c DFN107 Deafness, Autosomal Dominant 10 40
2222 c DFN143 Deafness, Autosomal Recessive 16 39
2223 c DFN130 Deafness, Autosomal Recessive 21 39
2224 c DFN352 Deafness, Autosomal Recessive 8 39
2225 c DFN092 Deafness, Autosomal Recessive 49 39
2226 c DFN267 Deafness, Autosomal Dominant 4a 39
2227 c DFN252 Deafness, Autosomal Recessive 24 39
2228 WST002 Western Equine Encephalitis 39
2229 c DFN098 Deafness, Autosomal Dominant 3a 39
2230 c DFN353 Deafness, Autosomal Dominant 12 39
2231 c DFN170 Deafness, Autosomal Recessive 31 38
2232 c DFN127 Deafness, Autosomal Recessive 7 38
2233 c DFN124 Deafness, Autosomal Recessive 6 38
2234 c DFN262 Deafness, Autosomal Recessive 15 38
2235 c DFN351 Deafness, Autosomal Dominant 6 38
2236 c DFN201 Deafness, Autosomal Recessive 3 38
2237 c DFN102 Deafness, Autosomal Dominant 3b 38
2238 JJN004 Jejunal Atresia 38
2239 c DFN114 Deafness, Autosomal Recessive 67 38
2240 c DFN190 Deafness, Autosomal Dominant 2a 38
2241 c DFN108 Deafness, Autosomal Recessive 77 38
2242 c DFN111 Deafness, Autosomal Recessive 35 38
2243 c DFN117 Deafness, Autosomal Dominant 15 37
2244 c DFN181 Deafness, Autosomal Recessive 66 37
2245 c DFN278 Deafness, Autosomal Dominant 65 37
2246 c ATS006 Autosomal Recessive Nonsyndromic Deafness 37
2247 c RNL125 Renal Tubular Acidosis, Distal, 1 37
2248 c DFN259 Deafness, Autosomal Recessive 86 37
2249 P ATR081 Atrial Standstill 37
2250 c DFN274 Deafness, Autosomal Dominant 56 36
2251 c DFN244 Deafness, Autosomal Recessive 42 36
2252 c DFN202 Deafness, Autosomal Dominant 48 36
2253 c DFN364 Deafness, Autosomal Recessive 57 36
2254 c DFN159 Deafness, Autosomal Dominant 5 36
2255 c DFN269 Deafness, Autosomal Recessive 98 36
2256 c DFN095 Deafness, Autosomal Recessive 25 35
2257 c DFN123 Deafness, Autosomal Recessive 79 35
2258 c DFN354 Deafness, Autosomal Dominant 20 35
2259 c DFN155 Deafness, Autosomal Dominant 41 34
2260 c DFN360 Deafness, Autosomal Dominant 69 34
2261 c DFN277 Deafness, Autosomal Recessive 102 33
2262 c DFN266 Deafness, Autosomal Dominant 4b 33
2263 c DFN120 Deafness, Autosomal Recessive 39 33
2264 c DFN249 Deafness, Autosomal Recessive 93 33
2265 c DFN132 Deafness, Autosomal Recessive 22 33
2266 c DFN137 Deafness, Autosomal Dominant 13 33
2267 c DFN280 Deafness, Autosomal Recessive 33
2268 c DFN253 Deafness, Autosomal Recessive 84a 33
2269 c DFN260 Deafness, Autosomal Recessive 89 33
2270 c DFN375 Deafness, Autosomal Recessive 94 32
2271 c DFN121 Deafness, Autosomal Recessive 28 32
2272 c FML311 Familial Colorectal Cancer Type X 32
2273 c DFN330 Deafness, Autosomal Recessive 97 32
2274 c DFN248 Deafness, Autosomal Recessive 18b 32
2275 c DFN188 Deafness, Autosomal Recessive 61 32
2276 c DFN178 Deafness, Autosomal Recessive 59 31
2277 c DFN367 Deafness, Autosomal Recessive 110 31
2278 c DFN284 Deafness, Autosomal Dominant 67 31
2279 PPL052 Papillomatosis, Confluent and Reticulated 31
2280 c DFN255 Deafness, Autosomal Dominant 64 31
2281 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
2282 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 31
2283 c DFN254 Deafness, Autosomal Recessive 84b 31
2284 c DFN094 Deafness, Autosomal Dominant 28 31
2285 c DFN327 Deafness, Autosomal Dominant 70 30
2286 c DFN265 Deafness, Autosomal Recessive 76 30
2287 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 30
2288 c DFN283 Deafness, Autosomal Recessive 104 30
2289 c DFN135 Deafness, Autosomal Recessive 91 30
2290 c DFN281 Deafness, Autosomal Recessive 103 30
2291 c DFN148 Deafness, Autosomal Dominant 16 29
2292 c DFN150 Deafness, Autosomal Dominant 21 29
2293 c DFN192 Deafness, Autosomal Dominant 23 29
2294 ACR034 Acrogeria, Gottron Type 29
2295 c DFN099 Deafness, Autosomal Dominant 2b 29
2296 c DFN118 Deafness, Autosomal Dominant 44 29
2297 c DFN336 Deafness, Autosomal Dominant 68 29
2298 c DFN183 Deafness, Autosomal Recessive 83 29
2299 c DFN374 Deafness, Autosomal Recessive 100 29
2300 c DFN119 Deafness, Autosomal Dominant 50 29
2301 c DFN273 Deafness, Autosomal Recessive 101 28
2302 c DFN116 Deafness, Autosomal Recessive 74 27
2303 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
2304 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 27
2305 c DFN246 Deafness, Autosomal Dominant 51 27
2306 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 27
2307 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 27
2308 PGM010 Pigmented Purpuric Eruption 27
2309 c DFN369 Deafness, Autosomal Recessive 111 26
2310 c DFN365 Deafness, Autosomal Recessive 109 26
2311 FXL001 Foix-Alajouanine Syndrome 26
2312 c JVN011 Juvenile Dermatitis Herpetiformis 26
2313 c THR023 Thrombophilia Due to Thrombomodulin Defect 26
2314 c DFN152 Deafness, Autosomal Dominant 27 26
2315 c DFN257 Deafness, Autosomal Dominant 33 26
2316 NRF026 Neurofibromatosis, Type Iv, of Riccardi 26
2317 c DFN030 Deafness, Autosomal Recessive 55 25
2318 c OTF001 Otof-Related Deafness 25
2319 c DFN173 Deafness, Autosomal Recessive 40 25
2320 c DFN271 Deafness, Autosomal Dominant 58 25
2321 c DFN162 Deafness, Autosomal Dominant 59 24
2322 c DFN169 Deafness, Autosomal Recessive 27 24
2323 c ATS528 Autosomal Recessive Nonsyndromic Deafness 70 24
2324 c DFN258 Deafness, Autosomal Recessive 48 24
2325 c DFN240 Deafness, Autosomal Recessive 96 24
2326 c DFN138 Deafness, Autosomal Recessive 53 24
2327 c DFN378 Deafness, Autosomal Recessive 99 24
2328 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 24
2329 c DFN179 Deafness, Autosomal Recessive 62 24
2330 c DFN149 Deafness, Autosomal Dominant 18 24
2331 c DFN174 Deafness, Autosomal Recessive 44 23
2332 c DFN184 Deafness, Autosomal Recessive 85 23
2333 c DFN373 Deafness, Autosomal Recessive 113 23
2334 P RCR026 Recurrent Hydatidiform Mole 23
2335 c HYD041 Hydatidiform Mole, Recurrent, 2 23
2336 c DFN166 Deafness, Autosomal Recessive 17 23
2337 c DFN379 Deafness, Autosomal Dominant 37 22
2338 c DFN134 Deafness, Autosomal Dominant 40 22
2339 c SPR083 Sporadic Hemiplegic Migraine 22
2340 c DFN160 Deafness, Autosomal Dominant 52 22
2341 c DFN329 Deafness, Autosomal Dominant 66 22
2342 DFN306 Deafness, Conductive, with Malformed External Ear 21
2343 c DFN168 Deafness, Autosomal Recessive 26 21
2344 PTR030 Pterygium of Conjunctiva and Cornea 21
2345 c DFN151 Deafness, Autosomal Dominant 24 20
2346 c DFN263 Deafness, Autosomal Recessive 68 20
2347 c DFN395 Deafness, Autosomal Dominant 82 20
2348 c DFN385 Deafness, Autosomal Dominant 78 20
2349 c DFN335 Deafness, Autosomal Dominant 71 20
2350 c DFN029 Deafness, Autosomal Recessive 51 20
2351 c DFN390 Deafness, Autosomal Dominant 80 20
2352 c DFN333 Deafness, Autosomal Dominant 73 20
2353 c DFN382 Deafness, Autosomal Dominant 76 20
2354 c DFN371 Deafness, Autosomal Recessive 112 19
2355 c DFN171 Deafness, Autosomal Recessive 33 19
2356 c DFN165 Deafness, Autosomal Recessive 14 19
2357 c DFN361 Deafness, Autosomal Recessive 106 19
2358 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
2359 CRD023 Cardiomyopathy Cataract Hip Spine Disease 19
2360 c DFN377 Deafness, Autosomal Recessive 115 19
2361 c DFN328 Deafness, Autosomal Dominant 72 19
2362 c DFN164 Deafness, Autosomal Recessive 13 18
2363 SHR023 Short Stature Syndrome, Brussels Type 18
2364 c DFN368 Deafness, Autosomal Dominant 74 18
2365 c HYD067 Hydatidiform Mole, Recurrent, 3 18
2366 c DFN167 Deafness, Autosomal Recessive 20 18
2367 HRT033 Heart-Hand Syndrome, Spanish Type 18
2368 c DFN180 Deafness, Autosomal Recessive 65 18
2369 AFB003 Afib Amyloidosis 18
2370 c DFN158 Deafness, Autosomal Dominant 49 18
2371 c DFN325 Deafness, Autosomal Recessive 108 18
2372 c DFN337 Deafness, Autosomal Recessive 107 18
2373 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 17
2374 c DRM040 Dermatitis Herpetiformis, Familial 17
2375 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 17
2376 c DFN243 Deafness, Autosomal Recessive 88 17
2377 c DFN154 Deafness, Autosomal Dominant 31 17
2378 c DFN394 Deafness, Autosomal Recessive 119 17
2379 c DFN272 Deafness, Autosomal Dominant 54 17
2380 c DFN161 Deafness, Autosomal Dominant 53 17
2381 c DFN381 Deafness, Autosomal Dominant 75 17
2382 c FML056 Familial Deafness 16
2383 c DFN387 Deafness, Autosomal Recessive 116 16
2384 c DFN177 Deafness, Autosomal Recessive 5 16
2385 c DFN397 Deafness, Autosomal Dominant 84 16
2386 c DFN376 Deafness, Autosomal Recessive 114 16
2387 c DFN388 Deafness, Autosomal Recessive 117 16
2388 c DFN156 Deafness, Autosomal Dominant 43 16
2389 c DFN357 Deafness, Autosomal Recessive 47 16
2390 c ATS490 Autosomal Dominant Nonsyndromic Deafness 77 16
2391 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
2392 c DFN153 Deafness, Autosomal Dominant 30 16
2393 c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 16
2394 c DFN383 Deafness, Autosomal Dominant 77 16
2395 c DFN261 Deafness, Autosomal Recessive 46 16
2396 c DFN386 Deafness, Autosomal Dominant 79 16
2397 c HRD219 Hereditary Distal Renal Tubular Acidosis 16
2398 c DFN396 Deafness, Autosomal Dominant 83 15
2399 BNK001 Banki Syndrome 15
2400 c DFN157 Deafness, Autosomal Dominant 47 15
2401 c DFN392 Deafness, Autosomal Dominant 81 15
2402 c DFN172 Deafness, Autosomal Recessive 38 15
2403 CRN283 Cornea Guttata with Anterior Polar Cataracts 15
2404 c DFN182 Deafness, Autosomal Recessive 71 14
2405 c DFN175 Deafness, Autosomal Recessive 45 14
2406 ECT009 Ectopia Pupillae 14
2407 c SCN066 Secondary Erythromelalgia 14
2408 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 14
2409 c ATS487 Autosomal Dominant Nonsyndromic Deafness 74 13
2410 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 13
2411 P RRD005 Rare Deafness 13
2412 GNT138 Genetic Intestinal Polyposis 13
2413 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
2414 DDX005 Ddx41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia 11
2415 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 11
2416 ATS492 Autosomal Dominant Tubulointerstitial Kidney Disease - Ren 11
2417 IMM016 Immune Deficiency, Familial Variable 11
2418 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
2419 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 11
2420 ERY007 Erythropoietin Polycythemia 9
2421 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 9
2422 c THR126 Thrombophilia Due to Decreased Release of Plat 8
2423 THR121 Thrombocythemia with Distal Limb Defects 8
2424 NPH025 Nephrotic Syndrome Ocular Anomalies 8
2425 c RRH022 Rare Hereditary Thrombophilia 7
2426 P NNF006 Non-Familial Dilated Cardiomyopathy 7
2427 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 6
2428 c ATS488 Autosomal Dominant Nonsyndromic Deafness 75 6
2429 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
2430 c ATS485 Autosomal Dominant Nonsyndromic Deafness 79 6
2431 c ATS486 Autosomal Recessive Nonsyndromic Deafness 116 6
2432 NNF005 Non-Familial Restrictive Cardiomyopathy 5
2433 PNC125 Pancreatic Lymphoma, Familial 5
2434 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 5
2435 OST166 Osteoma of Cranial Vault, Familial 5
2436 FML368 Familial Hyperinflammatory Lymphoproliferative Immunodeficiency 5
2437 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 5
2438 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
2439 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 5
2440 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 5
2441 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 5
2442 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 5
2443 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 5
2444 PRG136 Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies 4
2445 c NNF010 Non-Familial Rare Disease with Dilated Cardiomyopathy 3
2446 STL002 Stalker Chitayat Syndrome 3
2447 P LNG032 Lung Cancer 98
2448 c SYS001 Systemic Lupus Erythematosus 87
2449 P ART067 Aortic Aneurysm, Familial Thoracic 1 81
2450 STR067 Stroke, Ischemic 81
2451 c ART115 Aortic Valve Disease 1 78
2452 PFF001 Pfeiffer Syndrome 77
2453 P SCH015 Schizophrenia 76
2454 SQM013 Squamous Cell Carcinoma, Head and Neck 75
2455 P FML011 Familial Adenomatous Polyposis 73
2456 MSC152 Muscular Dystrophy, Becker Type 72
2457 KPS004 Kaposi Sarcoma 71
2458 MLT157 Multiple System Atrophy 1 71
2459 c SPN225 Spondyloarthropathy 1 70
2460 ALP103 Alpha-1-Antitrypsin Deficiency 70
2461 P PHC003 Pheochromocytoma 70
2462 c MCP052 Mucopolysaccharidosis, Type Vi 70
2463 c MNN047 Mannosidosis, Alpha B, Lysosomal 70
2464 P ESS003 Essential Thrombocythemia 70
2465 P LKM062 Leukemia, Acute Lymphoblastic 69
2466 P DYS007 Dyskeratosis Congenita 69
2467 P PRM011 Primary Ciliary Dyskinesia 69
2468 c MCL062 Mucolipidosis Ii Alpha/beta 69
2469 c DNG003 Dengue Disease 69
2470 ABT001 Abetalipoproteinemia 69
2471 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
2472 c HRD010 Hereditary Spastic Paraplegia 68
2473 HTC003 Hutchinson-Gilford Progeria Syndrome 68
2474 PRP001 Propionic Acidemia 68
2475 LYM007 Lymphangioleiomyomatosis 68
2476 P KBK002 Kabuki Syndrome 1 67
2477 P MCK013 Meckel Syndrome, Type 1 67
2478 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
2479 c BSL007 Basal Cell Carcinoma 67
2480 P VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67
2481 P CCK001 Cockayne Syndrome 67
2482 c PRG042 Progressive Familial Heart Block, Type Ia 67
2483 LWC002 Lowe Oculocerebrorenal Syndrome 67
2484 P DBT009 Diabetes Mellitus 67
2485 c FML346 Familial Adenomatous Polyposis 1 67
2486 CHR103 Charge Syndrome 66
2487 BLM001 Bloom Syndrome 66
2488 P GLC113 Galactosemia I 66
2489 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 66
2490 c MCL013 Mucolipidosis Iv 66
2491