Cardiovascular Diseases Category (1704 diseases)


Including: Cardiovascular, Circulatory, Veins, Arteries, Capilaries, Venules
See other categories (disease lists)

# Family MCID Name MIFTS
1 P DLT002 Dilated Cardiomyopathy 75
2 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 66
3 CRD231 Cardiomyopathy, Infantile Histiocytoid 28
4 c CRD099 Cardiomyopathy, Dilated, 1e 56
5 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 59
6 c CRD187 Cardiomyopathy, Dilated, 3b 48
7 HYP074 Hypersensitivity Vasculitis 54
8 c CRD093 Cardiomyopathy, Dilated, 1a 44
9 P CRD234 Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 24
10 P RST002 Restrictive Cardiomyopathy 52
11 c CRD102 Cardiomyopathy, Dilated, 1j 29
12 VSC006 Vascular Cancer 50
13 MCR066 Microcephaly-Cardiomyopathy 22
14 PRP009 Peripartum Cardiomyopathy 51
15 LVD003 Livedoid Vasculitis 46
16 SLH001 Salih Myopathy 26
17 c CRD237 Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction 25
18 HYP193 Hypocomplementemic Urticarial Vasculitis 37
19 VSC007 Vascular Disease 72
20 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 26
21 c CRD155 Cardiomyopathy, Dilated, 1kk 24
22 c CRD233 Cardiomyopathy, Dilated, 1b 44
23 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 33
24 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 26
25 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 23
26 BRK012 Broken Heart Syndrome 39
27 NXS001 Naxos Disease 46
28 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 48
29 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 39
30 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 38
31 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 36
32 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 25
33 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 24
34 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 23
35 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 23
36 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 23
37 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 22
38 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 21
39 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 21
40 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 20
41 P VSC011 Vasculitis 66
42 CRD170 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 39
43 c CRD105 Cardiomyopathy, Dilated, 1o 35
44 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 34
45 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 23
46 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 23
47 c CRD101 Cardiomyopathy, Dilated, 1x 22
48 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 22
49 c CRD063 Cardiomyopathy, Dilated, 2a 21
50 FBR090 Fibro-Adipose Vascular Anomaly 12
51 c ATR087 Atrial Standstill 1 70
52 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 21
53 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 28
54 EHL052 Ehlers-Danlos Syndrome, Vascular Type 58
55 PLM068 Pulmonary Vein Stenosis 46
56 c CRD090 Cardiomyopathy, Dilated, 1l 19
57 c CRD104 Cardiomyopathy, Dilated, 1p 30
58 VSC050 Vascular Malformation, Primary Intraosseous 27
59 PLM051 Pulmonary Arterio-Veinous Fistula 23
60 c CRD107 Cardiomyopathy, Dilated, 1r 23
61 c CRD113 Cardiomyopathy, Dilated, 1v 22
62 c CRD091 Cardiomyopathy, Dilated, 1dd 21
63 c CRD162 Cardiomyopathy, Dilated, 1ii 20
64 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 20
65 c CRD153 Cardiomyopathy, Dilated, 2b 20
66 c CRD114 Cardiomyopathy, Dilated, 1m 20
67 c CRD159 Cardiomyopathy, Dilated, 1hh 20
68 c CRD149 Cardiomyopathy, Dilated, 1jj 19
69 c CRD173 Cardiomyopathy, Dilated, 1nn 19
70 c CRD080 Cardiomyopathy, Dilated, 1g 19
71 c CRD082 Cardiomyopathy, Dilated, 1gg 19
72 c CRD115 Cardiomyopathy, Dilated, 1cc 19
73 c CRD108 Cardiomyopathy, Dilated, 1bb 19
74 c CRD092 Cardiomyopathy, Dilated, 1w 18
75 c CRD111 Cardiomyopathy, Dilated, 1i 18
76 c CRD060 Cardiomyopathy, Dilated, 1z 18
77 c CRD096 Cardiomyopathy, Dilated, 1ee 18
78 c CRD064 Cardiomyopathy, Dilated, 1ff 17
79 LYM045 Lymphocytic Vasculitis 36
80 c CRD069 Cardiomyopathy, Dilated, 1h 33
81 c CRD176 Cardiomyopathy, Familial Restrictive, 1 26
82 VNF001 Vein of Galen Aneurysm 20
83 c CRD098 Cardiomyopathy, Familial Restrictive, 3 18
84 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 17
85 CRD019 Cardiocranial Syndrome 12
86 TMM013 Tmem70 Defect 7
87 P LPR002 Leopard Syndrome 51
88 ACT060 Acute Vascular Insufficiency of Intestine 43
89 c LPR007 Leopard Syndrome 3 21
90 c LPR011 Leopard Syndrome 2 17
91 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
92 FMR001 Femoral Vein Thrombophlebitis 10
93 CNJ005 Conjunctival Vascular Disease 9
94 ECT028 Ectrodactyly Cardiopathy Dysmorphism 8
95 P LFT003 Left Ventricular Noncompaction 55
96 c MYP078 Myopathy, Myofibrillar, 3 48
97 P MYF003 Myofibrillar Myopathy 47
98 c MYP072 Myopathy, Myofibrillar, 1 47
99 c CRD097 Cardiomyopathy, Dilated, 1d 43
100 c MYP082 Myopathy, Myofibrillar, 2 42
101 CRD137 Cardiogenic Shock 42
102 c MYP079 Myopathy, Myofibrillar, 5 35
103 c MYP080 Myopathy, Myofibrillar, 4 30
104 c LFT021 Left Ventricular Noncompaction 1 30
105 c MYP119 Myopathy, Myofibrillar, 7 25
106 c MYP118 Myopathy, Myofibrillar, 8 23
107 CMB025 Combined Oxidative Phosphorylation Deficiency 10 22
108 CRD192 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 21
109 CRD158 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 20
110 c CRD112 Cardiomyopathy, Dilated, 1u 19
111 CRD193 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 17
112 c LFT020 Left Ventricular Noncompaction 7 16
113 c LFT011 Left Ventricular Noncompaction 2 13
114 PRP027 Peripheral Vascular Disease 72
115 P HYP061 Hypertrophic Cardiomyopathy 59
116 c MCR256 Microphthalmia, Syndromic 9 52
117 NNN026 Noonan Syndrome with Multiple Lentigines 51
118 P MCR241 Microphthalmia, Syndromic 3 42
119 ALC010 Alcoholic Cardiomyopathy 41
120 c MCR263 Microphthalmia, Syndromic 1 40
121 c MCR261 Microphthalmia, Syndromic 2 40
122 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 37
123 c MCR251 Microphthalmia, Syndromic 6 33
124 c MCR252 Microphthalmia, Syndromic 5 28
125 c MCR245 Microphthalmia, Syndromic 8 27
126 c MCR312 Microphthalmia, Syndromic 10 26
127 c MCR212 Microphthalmia, Syndromic 12 26
128 c MCR228 Microphthalmia, Syndromic 13 24
129 CTN025 Cutaneous Collagenous Vasculopathy 23
130 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 23
131 c MCR217 Microphthalmia, Syndromic 11 22
132 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 22
133 c LFT017 Left Ventricular Noncompaction 8 22
134 c MCR262 Microphthalmia, Syndromic 4 21
135 CRD023 Cardiomyopathy Cataract Hip Spine Disease 20
136 PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 18
137 c DLT017 Dilated Cardiomyopathy 1t 14
138 c GLY008 Glycogen Storage Disease Ii 66
139 AND019 Andersen Cardiodysrhythmic Periodic Paralysis 63
140 P GLY013 Glycogen Storage Disease 61
141 c GLY003 Glycogen Storage Disease Iii 61
142 c GLY005 Glycogen Storage Disease Vi 57
143 c GLY004 Glycogen Storage Disease V 56
144 P RTN022 Retinal Vein Occlusion 54
145 c GLY007 Glycogen Storage Disease Iv 54
146 RTN020 Retinal Vascular Disease 54
147 c GLY011 Glycogen Storage Disease Vii 52
148 c GLY060 Glycogen Storage Disease Ia 50
149 RNL097 Renal Artery Disease 42
150 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 41
151 c GLY023 Glycogen Storage Disease Type 0 41
152 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 41
153 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 41
154 c GLY098 Glycogen Storage Disease, Type Ixd 41
155 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 40
156 c GLY044 Glycogen Storage Disease Ixc 40
157 c GLY016 Glycogen Storage Disease Ib 37
158 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 34
159 c GLY057 Glycogen Storage Disease X 33
160 c GLY009 Glycogen Storage Disease Xv 30
161 c GLY017 Glycogen Storage Disease Ic 30
162 c GLY097 Glycogen Storage Disease Ixb 29
163 c GLY043 Glycogen Storage Disease Xii 28
164 LGH013 Leigh Syndrome with Cardiomyopathy 27
165 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 27
166 c GLY006 Glycogen Storage Disease Viii 27
167 c GLY059 Glycogen Storage Disease Xiii 24
168 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 24
169 c GLY001 Glycogen Storage Disease Ix 23
170 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 23
171 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 20
172 c GLY093 Glycogen Storage Disease Ixa 19
173 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15
174 HRD064 Hereditary Vascular Retinopathy 13
175 GCH019 Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification 10
176 PRT007 Partial of Retinal Vein Occlusion 7
177 LPT004 Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 3
178 P CRD224 Cardiofaciocutaneous Syndrome 1 64
179 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
180 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
181 ELS001 Eales Disease 51
182 VND001 Vein Disease 49
183 LMR001 Lemierre's Syndrome 49
184 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
185 P MTC010 Mitochondrial Dna Depletion Syndrome 41
186 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
187 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
188 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
189 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
190 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
191 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
192 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
193 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
194 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
195 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
196 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
197 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
198 CMB019 Combined Oxidative Phosphorylation Deficiency 8 23
199 c CRD163 Cardiofaciocutaneous Syndrome 2 21
200 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 21
201 c CRD244 Cardiomyopathy, Dilated, 2c 20
202 c CRD167 Cardiofaciocutaneous Syndrome 4 20
203 c CRD164 Cardiofaciocutaneous Syndrome 3 20
204 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
205 c MTC014 Mitochondrial Dna Deletion Syndromes 15
206 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
207 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
208 P GCH001 Gaucher's Disease 66
209 P CRD119 Cardiac Arrest 66
210 VRC005 Varicose Veins 66
211 c GCH015 Gaucher Disease, Type I 65
212 c GCH016 Gaucher Disease, Type Ii 61
213 c GCH017 Gaucher Disease, Type Iii 58
214 P CPL006 Capillary Hemangioma 55
215 CNT046 Central Nervous System Vasculitis 49
216 RHM014 Rheumatoid Vasculitis 41
217 HPT020 Hepatic Vascular Disease 38
218 c PST106 Post-Cardiac Arrest Syndrome 33
219 c GCH013 Gaucher Disease, Type Iiic 32
220 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 26
221 CMB014 Combined Oxidative Phosphorylation Deficiency 3 26
222 c LFT018 Left Ventricular Noncompaction 10 21
223 ALL002 Allergic Cutaneous Vasculitis 19
224 c CRD071 Cardiomyopathy, Dilated, 1q 15
225 c CRD070 Cardiomyopathy, Dilated, 1k 15
226 c PSD023 Pseudo-Gaucher Disease 14
227 PLM003 Pulmonary Vein Leiomyosarcoma 12
228 VSC022 Vascular Erectile Tumor 5
229 CNG172 Congenital Vascular Cavernous Malformations 5
230 DGR001 Digeorge Syndrome 61
231 ACH005 Achalasia 53
232 VSC008 Vascular Hemostatic Disease 43
233 TTL012 Total Anomalous Pulmonary Venous Return 1 41
234 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 40
235 DXR001 Doxorubicin Induced Cardiomyopathy 39
236 P ATR081 Atrial Standstill 36
237 FML304 Familial Isolated Dilated Cardiomyopathy 35
238 VSC004 Vasculogenic Impotence 34
239 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 32
240 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 26
241 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 24
242 c ATR074 Atrial Standstill 2 22
243 FML293 Familial Isolated Restrictive Cardiomyopathy 21
244 VSC009 Vascular Skin Disease 21
245 CRD006 Cardiovascular Syphilis 20
246 ALG026 Al-Gazali Syndrome 20
247 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 19
248 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 19
249 CRD217 Cardiac Tuberculosis 17
250 CRD215 Cardioskeletal Syndrome, Kuwaiti Type 17
251 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16
252 KSZ001 Kasznica Carlson Coppedge Syndrome 15
253 DRG017 Drug-Induced Vasculitis 15
254 PRP097 Prepapillary Vascular Loops 15
255 VSC001 Vascular Myelopathy 12
256 PRM285 Primitive Portal Vein Thrombosis 12
257 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
258 CRD018 Cardioauditory Syndrome of Sanchez Cascos 9
259 ILC001 Iliac Vein Thrombophlebitis 9
260 AGN011 Agenesis of the Superior Vena Cava 8
261 VSC059 Vascular-Like Classical Ehlers-Danlos Syndrome 7
262 DPC001 Deep Corneal Vascularisation 6
263 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
264 MLG026 Male Genital Organ Vascular Disease 6
265 ABS017 Absence of Innominate Vein 5
266 SBR010 Subaortic Course of Innominate Vein 5
267 CNG063 Congenital Cardiovascular Shunt 3
268 SPN093 Spine Rigid Cardiomyopathy 2
269 CLF007 Cleft Lip and Palate Malrotation Cardiopathy 2
270 STR030 Sternal Cyst Vascular Anomalies 2
271 STR031 Sternal Malformation Vascular Dysplasia Associatio 2
272 VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 53
273 RTN001 Retinal Vasculitis 47
274 P ART106 Arterial Calcification, Generalized, of Infancy, 1 38
275 LFF001 Loeffler Endocarditis 33
276 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 32
277 c ART102 Arterial Calcification, Generalized, of Infancy, 2 23
278 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
279 CMB072 Combined Oxidative Phosphorylation Deficiency 28 20
280 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 9
281 P ADM011 Adams-Oliver Syndrome 52
282 c CNT016 Central Retinal Vein Occlusion 50
283 P PLM025 Pulmonary Venoocclusive Disease 47
284 SPR007 Superior Mesenteric Artery Syndrome 40
285 PRK003 Parkes Weber Syndrome 37
286 EXT035 Extrinsic Cardiomyopathy 36
287 ANG019 Angiomyoma 36
288 c ATM104 Autoimmune Vasculitis 36
289 c ADM005 Adams-Oliver Syndrome 1 35
290 SSC001 Susac Syndrome 35
291 CYL001 Cayler Cardiofacial Syndrome 35
292 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
293 PHC006 Phacomatosis Pigmentovascularis 31
294 c ATM102 Autoimmune Cardiomyopathy 30
295 MYT019 May-Thurner Syndrome 29
296 CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 29
297 INT084 Intrinsic Cardiomyopathy 29
298 c ADM010 Adams-Oliver Syndrome 5 29
299 c ADM007 Adams-Oliver Syndrome 2 29
300 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 26
301 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
302 HRT018 Heart-Hand Syndrome, Slovenian Type 22
303 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 22
304 c ADM012 Adams-Oliver Syndrome 6 22
305 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 21
306 MTC037 Mitochondrial Phosphate Carrier Deficiency 20
307 ATM013 Autoimmune Disease of Cardiovascular System 18
308 P PTN014 Patent Ductus Arteriosus 1 61
309 KRT019 Keratitis, Hereditary 61
310 P ART021 Arteriosclerosis 61
311 P CTS001 Cutis Laxa 58
312 PLC005 Placental Insufficiency 57
313 VLC001 Velocardiofacial Syndrome 56
314 P HMR005 Hemorrhoid 54
315 ERY017 Erythema Elevatum Diutinum 54
316 AGN012 Agnathia-Otocephaly Complex 53
317 END021 Endomyocardial Fibrosis 51
318 P PLY017 Polyarteritis Nodosa 50
319 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
320 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
321 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
322 P MYT023 Myotonia Congenita 49
323 DBT008 Diabetic Angiopathy 48
324 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 45
325 RTN021 Retinal Vascular Occlusion 45
326 c INT059 Internal Hemorrhoid 45
327 GRN006 Granulomatous Angiitis 43
328 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
329 c MYT029 Myotonia Congenita, Autosomal Recessive 39
330 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
331 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
332 ART035 Arterial Calcification of Infancy 38
333 CHR067 Chronic Intestinal Vascular Insufficiency 36
334 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
335 MSN003 Mesenteric Vascular Occlusion 35
336 c LPR012 Leopard Syndrome 1 34
337 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
338 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
339 c MYT027 Myotonia Congenita, Autosomal Dominant 33
340 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
341 c ACQ027 Acquired Cutis Laxa 31
342 MCH011 Meacham Syndrome 30
343 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
344 GLM012 Glomuvenous Malformations 29
345 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
346 INF133 Inferior Vena Cava Interruption 27
347 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
348 CRD235 Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 26
349 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 25
350 RTN179 Retinal Arteries, Tortuosity of 24
351 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
352 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 23
353 c ADM009 Adams-Oliver Syndrome 4 22
354 c ADM008 Adams-Oliver Syndrome 3 22
355 c ATP003 Atp6v0a2-Related Cutis Laxa 22
356 CRD009 Cardioencephalomyopathy 19
357 VNS012 Venous Thoracic Outlet Syndrome 18
358 c EFM001 Efemp2-Related Cutis Laxa 18
359 HDZ001 Hadziselimovic Syndrome 18
360 c LTB003 Ltbp4-Related Cutis Laxa 17
361 c SYS066 Systemic Polyarteritis Nodosa 17
362 CRR012 Cirrhotic Cardiomyopathy 17
363 HRT033 Heart-Hand Syndrome, Spanish Type 17
364 VSC014 Vascular Hyalinosis 16
365 c PTN013 Patent Ductus Arteriosus 2 16
366 AZY001 Azygos Continuation of the Inferior Vena Cava 16
367 c ART148 Arteriosclerosis, Severe Juvenile 13
368 OMP011 Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 13
369 c PRM222 Primary Polyarteritis Nodosa 12
370 MSX002 Mesoaxial Hexadactyly and Cardiac Malformation 12
371 HMP031 Hemophilia a with Vascular Abnormality 11
372 c LMN001 Lmna-Related Dilated Cardiomyopathy 11
373 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 11
374 PRT124 Portal Vein, Cavernous Transformation of 11
375 ATX044 Ataxia, Deafness, and Cardiomyopathy 10
376 DST099 Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 10
377 SPL069 Splenoportal Vascular Anomalies 10
378 ENC053 Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 10
379 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 10
380 c FBL003 Fbln5-Related Cutis Laxa 9
381 UNC016 Unclassified Vasculitis 9
382 PNC121 Pancytopenia and Occlusive Vascular Disease 9
383 c CRD027 Cardiomyopathy Due to Anthracyclines 9
384 VSC052 Vasculitis, Lymphocytic, Nodular 8
385 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
386 c SCN055 Secondary Polyarteritis Nodosa 8
387 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 8
388 CRD230 Cardiomyopathy Associated with Myopathy and Sudden Death 8
389 HYP747 Hypertaurinuric Cardiomyopathy 8
390 VNL003 Venular Insufficiency, Systemic 7
391 CNG352 Congenital Stenosis of the Inferior Vena Cava 7
392 RGH008 Right Superior Vena Cava Connecting to Left-Sided Atrium 6
393 RGH007 Right Inferior Vena Cava Connecting to Left-Sided Atrium 6
394 PPK001 Piepkorn Karp Hickok Syndrome 6
395 CNG340 Congenital Anomaly of Hepatic Vein 6
396 VSC057 Vasculitis, Lymphocytic, Cutaneous Small Vessel 5
397 PST098 Postinfectious Vasculitis 5
398 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
399 PLY002 Polyneuropathy in Collagen Vascular Disease 4
400 VNS014 Veins, Pattern of, on Anterior Thorax 3
401 VSC051 Vascular Helix of Umbilical Cord 3
402 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
403 CRD021 Cardiomelic Syndrome Stratton Koehler Type 2
404 CRD030 Cardiomyopathy Spherocytosis 2
405 CRD020 Cardiofacial Syndrome Short Limbs 2
406 P NNN008 Noonan Syndrome 1 78
407 KPS004 Kaposi Sarcoma 77
408 P NRF023 Neurofibromatosis, Type Ii 75
409 MRF001 Marfan Syndrome 75
410 BHC003 Behcet Syndrome 74
411 c HMC039 Hemochromatosis, Type 1 74
412 ISC006 Ischemic Heart Disease 72
413 KWS002 Kawasaki Disease 71
414 ART016 Aortic Aneurysm 71
415 P ALG028 Alagille Syndrome 1 70
416 CRB039 Cerebrovascular Disease 70
417 CNG034 Congestive Heart Failure 70
418 P TMP003 Temporal Arteritis 69
419 GRN037 Granulomatosis with Polyangiitis 69
420 P ORT004 Orthostatic Intolerance 69
421 P PSD087 Pseudoxanthoma Elasticum 68
422 TKY002 Takayasu Arteritis 66
423 ART140 Arteries, Anomalies of 66
424 P LNG028 Long Qt Syndrome 66
425 c NNN010 Noonan Syndrome 3 65
426 RHM027 Rheumatic Disease 65
427 c LNG044 Long Qt Syndrome 1 64
428 INT002 Intermittent Claudication 64
429 CST001 Costello Syndrome 64
430 c CNG411 Congenital Disorder of Glycosylation, Type in 64
431 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
432 c ART101 Aortic Valve Disease 2 63
433 WLL001 Williams-Beuren Syndrome 63
434 P CRB048 Cerebral Cavernous Malformations 63
435 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
436 P HYP055 Hypoplastic Left Heart Syndrome 61
437 HNC001 Henoch-Schoenlein Purpura 61
438 RHM001 Rheumatic Fever 61
439 KLP010 Klippel-Trenaunay-Weber Syndrome 61
440 P BRG001 Brugada Syndrome 61
441 P PRT013 Portal Hypertension 61
442 P VNT002 Ventricular Septal Defect 61
443 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
444 ATH013 Atherosclerosis Susceptibility 60
445 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
446 PLM070 Pulmonic Stenosis 60
447 CNT061 Conotruncal Heart Malformations 60
448 HPT046 Hepatic Veno-Occlusive Disease 60
449 PLM010 Pulmonary Edema 59
450 PTN001 Patent Foramen Ovale 59
451 P MYC008 Myocarditis 59
452 ANG020 Angiosarcoma 59
453 P ECL001 Eclampsia 58
454 HRT012 Heart Valve Disease 58
455 P ATR010 Atrial Heart Septal Defect 58
456 P MTR012 Mitral Valve Disease 58
457 PRC013 Pericarditis 58
458 STR039 Sturge-Weber Syndrome 58
459 c ACT075 Acute Myocardial Infarction 57
460 HLL004 Hellp Syndrome 57
461 P LYS001 Loeys-Dietz Syndrome 57
462 INF034 Infective Endocarditis 56
463 GDP001 Goodpasture Syndrome 56
464 ART017 Aortic Disease 56
465 TLN003 Telangiectasis 56
466 PRP080 Peripheral Artery Disease 56
467 P ATR001 Atrioventricular Septal Defect 56
468 c LNG047 Long Qt Syndrome 2 56
469 c SVR005 Severe Pre-Eclampsia 55
470 MCR088 Microscopic Polyangiitis 55
471 c NNN012 Noonan Syndrome 5 55
472 DXT001 Dextrocardia 54
473 LMB062 Limb Ischemia 54
474 P VNS003 Venous Insufficiency 54
475 ATR057 Atrioventricular Block 54
476 c NNN009 Noonan Syndrome 2 53
477 P PRC012 Pericardial Effusion 53
478 P SCK002 Sick Sinus Syndrome 53
479 RTN003 Retinal Ischemia 53
480 CRT013 Carotid Stenosis 53
481 RHM028 Rheumatic Heart Disease 52
482 RGH009 Right Atrial Isomerism 52
483 CRN030 Coronary Stenosis 52
484 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
485 P CMP008 Compartment Syndrome 52
486 P CNT004 Centronuclear Myopathy 52
487 P VSC013 Visceral Heterotaxy 52
488 P MYM013 Moyamoya Disease 1 52
489 P RNV001 Renovascular Hypertension 52
490 EBS001 Ebstein Anomaly 51
491 MTR003 Mitral Valve Stenosis 51
492 CRN019 Coronary Artery Vasospasm 50
493 INT007 Intermediate Coronary Syndrome 50
494 ESP002 Esophageal Varix 50
495 c MTR002 Mitral Valve Insufficiency 50
496 DBL002 Double Outlet Right Ventricle 50
497 HNN001 Hennekam Syndrome 50
498 c LNG048 Long Qt Syndrome 3 50
499 P RTN014 Retinal Artery Occlusion 50
500 c MLG069 Malignant Hypertension 50
501 CHR101 Char Syndrome 50
502 CRD001 Cardiac Tamponade 50
503 HYP006 Hypertensive Heart Disease 49
504 DBT006 Diabetic Macular Edema 49
505 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
506 P ART018 Aortic Valve Insufficiency 49
507 P CRN074 Coronary Artery Aneurysm 49
508 CTS011 Cutis Marmorata Telangiectatica Congenita 49
509 ACT017 Acute Chest Syndrome 48
510 P EPT020 Epithelioid Hemangioendothelioma 48
511 TRC062 Tricuspid Atresia 48
512 P ART084 Arteriovenous Fistula 48
513 PLM041 Pulmonary Valve Stenosis 48
514 RYN001 Raynaud Disease 48
515 c HMC010 Hemochromatosis, Type 3 47
516 END020 Endocardial Fibroelastosis 47
517 c HMC035 Hemochromatosis, Type 4 47
518 MYC005 Myocardial Stunning 47
519 HRT011 Heart Septal Defect 47
520 c ACT076 Acute Myocarditis 47
521 CRB004 Cerebral Artery Occlusion 47
522 RGH001 Right Bundle Branch Block 46
523 SNT005 Sinoatrial Node Disease 46
524 SND002 Sneddon Syndrome 46
525 P PSD003 Pseudohypoaldosteronism 46
526 c HMC009 Hemochromatosis Type 2 46
527 KPS002 Kaposiform Hemangioendothelioma 46
528 SYS003 Systolic Heart Failure 46
529 DST006 Diastolic Heart Failure 46
530 c NNN013 Noonan Syndrome 6 45
531 P HRT035 Heart Block, Congenital 45
532 CPL005 Capillary Disease 45
533 ART004 Aortic Atherosclerosis 45
534 P CPL003 Capillary Leak Syndrome 45
535 c ATR066 Atrial Septal Defect 2 45
536 c SYS007 Systemic Capillary Leak Syndrome 45
537 INT010 Intracranial Embolism 45
538 HMP001 Hemopericardium 45
539 c BRG005 Brugada Syndrome 1 45
540 c SHR030 Short Qt Syndrome 44
541 LFT001 Left Bundle Branch Hemiblock 44
542 P JVN024 Juvenile Hereditary Hemochromatosis 44
543 CRT015 Carotid Artery Occlusion 44
544 CRB008 Cerebral Atherosclerosis 44
545 c HYP543 Hypoplastic Left Heart Syndrome 1 44
546 c LNG050 Long Qt Syndrome 5 44
547 HRT008 Heart Conduction Disease 44
548 P ANT088 Anterior Segment Dysgenesis 43
549 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
550 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
551 c LNG051 Long Qt Syndrome 6 43
552 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
553 P TRC087 Tricuspid Valve Disease 43
554 c MYP123 Myopathy, Centronuclear, 1 43
555 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
556 c NNN011 Noonan Syndrome 4 42
557 ART008 Arteriosclerosis Obliterans 42
558 THR099 Third-Degree Atrioventricular Block 42
559 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
560 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
561 TRC021 Tricuspid Valve Stenosis 42
562 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
563 c HMC021 Hemochromatosis, Type 2a 41
564 c CNT028 Central Retinal Artery Occlusion 41
565 BLR027 Blue Rubber Bleb Nevus 41
566 c TRC022 Tricuspid Valve Insufficiency 41
567 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
568 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
569 c ATM022 Autoimmune Myocarditis 41
570 c LNG053 Long Qt Syndrome 9 41
571 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
572 P CRC039 Coarctation of Aorta 40
573 c LNG057 Long Qt Syndrome 13 40
574 c NNN021 Noonan Syndrome 8 39
575 c MYP131 Myopathy, Centronuclear, 2 39
576 SBV001 Subvalvular Aortic Stenosis 39
577 c NNN024 Noonan Syndrome 9 39
578 c ANT071 Anterior Segment Dysgenesis 4 39
579 DXT002 Dextrocardia with Situs Inversus 39
580 c PLM022 Pulmonary Valve Insufficiency 39
581 c HMN027 Hemangioma, Capillary Infantile 39
582 BCK003 Background Diabetic Retinopathy 38
583 CRT008 Carotid Artery Dissection 38
584 c MLG145 Malignant Epithelioid Hemangioendothelioma 38
585 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 38
586 BLT003 Blue Toe Syndrome 38
587 c CHR096 Chronic Pulmonary Heart Disease 38
588 BSL004 Basilar Artery Occlusion 38
589 FRS012 First-Degree Atrioventricular Block 38
590 MDD003 Middle Cerebral Artery Infarction 38
591 HNZ004 Heinz Body Anemias 38
592 c LNG096 Long Qt Syndrome 15 38
593 BRN026 Branch Retinal Artery Occlusion 38
594 ASC009 Ascites, Chylous 38
595 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
596 c LSS006 Lissencephaly 2 38
597 HYP223 Hypoplastic Right Heart Syndrome 37
598 MLD002 Mild Pre-Eclampsia 37
599 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
600 c NNN025 Noonan Syndrome 10 37
601 DRS001 Dressler's Syndrome 37
602 PRC010 Pericardial Mesothelioma 37
603 CNS002 Constrictive Pericarditis 37
604 P ANT001 Anterolateral Myocardial Infarction 37
605 SHW001 Shwartzman Phenomenon 37
606 INT020 Intravenous Leiomyomatosis 37
607 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
608 c ATR031 Atrial Septal Defect 4 36
609 c SBC003 Subacute Bacterial Endocarditis 36
610 PRC005 Pericardial Tuberculosis 36
611 SPN012 Spindle Cell Hemangioma 36
612 P PLM040 Pulmonary Valve Disease 36
613 HYP034 Hypertensive Encephalopathy 36
614 c CNG379 Congenital Disorder of Glycosylation, Type It 36
615 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
616 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
617 ANG062 Angioosteohypertrophic Syndrome 35
618 c PLM127 Pulmonary Hypertension, Primary, 3 35
619 c LNG056 Long Qt Syndrome 12 35
620 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 35
621 c NNN020 Noonan Syndrome 7 35
622 ACT056 Acute Cor Pulmonale 35
623 c TYP024 Type Ii Mixed Cryoglobulinemia 35
624 SPL005 Splenic Artery Aneurysm 34
625 INF013 Inferior Myocardial Infarction 34
626 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
627 KSH001 Keshan Disease 34
628 KNZ001 Kanzaki Disease 34
629 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
630 CRN020 Coronary Restenosis 34
631 ANT013 Anterior Spinal Artery Syndrome 34
632 PLM180 Pulmonary Artery Disease 34
633 INT276 Interatrial Communication 34
634 PLM151 Pulmonary Arteriovenous Fistulas 34
635 SVR002 Severe Nonproliferative Diabetic Retinopathy 34
636 TRP006 Tarp Syndrome 34
637 P ATR022 Atrial Septal Defect 3 34
638 GNR003 Generalized Atherosclerosis 34
639 ART012 Aortitis 33
640 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
641 SCN049 Second-Degree Atrioventricular Block 33
642 VRT001 Vertebral Artery Occlusion 33
643 SBN001 Subendocardial Myocardial Infarction 33
644 CHL070 Cholesterol Embolism 33
645 c HTR021 Heterotaxy, Visceral, 5, Autosomal 33
646 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
647 NNT039 Neonatal Marfan Syndrome 33
648 ANR010 Aneurysm of Sinus of Valsalva 32
649 VRT003 Vertebrobasilar Insufficiency 32
650 CTN019 Cutaneous Polyarteritis Nodosa 32
651 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
652 INT053 Intracranial Vasospasm 32
653 CRN006 Coronary Aneurysm 32
654 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
655 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
656 c HMC034 Hemochromatosis, Type 5 32
657 PRT048 Partial Atrioventricular Canal 31
658 c BRG007 Brugada Syndrome 5 31
659 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
660 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 31
661 c CNG188 Congenital Disorder of Glycosylation, Type if 31
662 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
663 c ATR062 Atrial Septal Defect 1 31
664 OCC005 Occlusion Precerebral Artery 31
665 c MYC058 Myocardial Infarction 2 31
666 TXC010 Toxic Myocarditis 30
667 c PLM128 Pulmonary Hypertension, Primary, 2 30
668 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
669 CMP035 Complete Atrioventricular Canal 30
670 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
671 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 30
672 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29
673 ART010 Arteriolosclerosis 29
674 CNG134 Congenitally Corrected Transposition of the Great Arteries 29
675 RTN019 Retinal Telangiectasia 29
676 APC001 Apical Myocardial Infarction 29
677 UNV002 Univentricular Heart 29
678 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 29
679 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
680 MCR183 Microcephaly-Capillary Malformation Syndrome 29
681 c MLG039 Malignant Essential Hypertension 29
682 HTR001 Heterophyiasis 29
683 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
684 c PLM121 Pulmonary Hypertension, Primary, 4 28
685 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 28
686 CRB031 Cerebral Arterial Disease 28
687 CBB002 Cobb Syndrome 28
688 P ACT080 Acute Pulmonary Heart Disease 28
689 CRD017 Cardiac Valvular Dysplasia, X-Linked 28
690 c PST001 Posterior Myocardial Infarction 28
691 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
692 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
693 c ANT083 Anterior Segment Dysgenesis 7 28
694 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
695 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 28
696 c LNG098 Long Qt Syndrome 14 27
697 c LYS020 Loeys-Dietz Syndrome 5 27
698 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
699 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 27
700 TRC007 Tricuspid Valve Prolapse 27
701 ATY022 Atypical Coarctation of Aorta 27
702 ANM031 Anomalous Left Coronary Artery from the Pulmonary Artery 27
703 PLM058 Pulmonary Atresia with Intact Ventricular Septum 27
704 PLV004 Pelvic Varices 27
705 CRB005 Cerebral Arteritis 27
706 END074 Endocardium Disease 26
707 RGH006 Right Aortic Arch 26
708 c BNG021 Benign Essential Hypertension 26
709 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
710 FDL001 Fiedler's Myocarditis 26
711 P ART034 Aortopulmonary Window 26
712 HYP648 Hypertension and Brachydactyly Syndrome 26
713 VRT002 Vertebral Artery Insufficiency 26
714 RTN004 Retinal Microaneurysm 26
715 RPD005 Rapidly Involuting Congenital Hemangioma 25
716 CLC017 Calcification of Joints and Arteries 25
717 c LSS009 Lissencephaly 3 25
718 c CNG520 Congenital Heart Defects, Multiple Types, 6 25
719 SLN001 Silent Myocardial Infarction 25
720 c BRG006 Brugada Syndrome 2 25
721 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
722 c HTR009 Heterotaxy, Visceral, 2, Autosomal 25
723 NNN007 Non-Involuting Congenital Hemangioma 25
724 CMB008 Combined Oxidative Phosphorylation Deficiency 25
725 SPN031 Supine Hypotensive Syndrome 25
726 c MLG080 Malignant Secondary Hypertension 25
727 DFF022 Diffuse Neonatal Hemangiomatosis 24
728 c MLG003 Malignant Renovascular Hypertension 24
729 c SHR032 Short Qt Syndrome 2 24
730 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 24
731 c HMC019 Hemochromatosis, Type 2b 24
732 c ATR034 Atrial Septal Defect 6 24
733 c VNT028 Ventricular Septal Defect 1 24
734 ART030 Aortic Arch Interruption 24
735 ANT005 Anteroseptal Myocardial Infarction 24
736 CRT028 Cor Triatriatum 24
737 c ANT085 Anterior Segment Dysgenesis 5 24
738 c ATR023 Atrial Septal Defect 5 24
739 c SHR031 Short Qt Syndrome 1 24
740 c ANT010 Anterior Compartment Syndrome 24
741 CRT060 Cor Triatriatum Sinister 24
742 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 24
743 c JVN019 Juvenile Temporal Arteritis 23
744 HRT006 Heart Aneurysm 23
745 CRS011 Criss-Cross Heart 23
746 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 23
747 HGH021 Hughes-Stovin Syndrome 23
748 PLM059 Pulmonary Atresia with Ventricular Septal Defect 23
749 c PRT063 Proteus-Like Syndrome 23
750 c EXD010 Exudative Vitreoretinopathy 6 22
751 ABR001 Aberrant Subclavian Artery 22
752 P PK3004 Pik3ca-Related Overgrowth Spectrum 22
753 SBC002 Subclavian Artery Aneurysm 22
754 c EXD007 Exudative Vitreoretinopathy 3 22
755 ANG049 Angioedema Induced by Ace Inhibitors 22
756 c MYP098 Myopathy, Centronuclear, 4 22
757 c BRG012 Brugada Syndrome 9 22
758 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
759 LTR004 Lateral Myocardial Infarction 22
760 c MYP148 Myopathy, Centronuclear, 5 22
761 c VNT024 Ventricular Septal Defect 3 22
762 CMB049 Combined Oxidative Phosphorylation Deficiency 17 22
763 c CWD009 Cowden Syndrome 7 22
764 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 22
765 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
766 DSC003 Discrete Subaortic Stenosis 21
767 c HYP517 Hypoplastic Left Heart Syndrome 2 21
768 P TTR028 Tetraamelia Syndrome 1 21
769 c SHR033 Short Qt Syndrome 3 21
770 c CWD008 Cowden Syndrome 6 21
771 c PSD094 Pseudohypoaldosteronism, Type Iib 21
772 c CNG404 Congenital Heart Defects, Multiple Types, 4 21
773 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
774 LVC002 Levocardia 21
775 c HTR018 Heterotaxy, Visceral, 7, Autosomal 21
776 CMB082 Combined Oxidative Phosphorylation Deficiency 33 21
777 c HTR023 Heterotaxy, Visceral, 6, Autosomal 21
778 BSL001 Basilar Artery Insufficiency 21
779 PST017 Posterolateral Myocardial Infarction 21
780 c PRV016 Periventricular Nodular Heterotopia 6 21
781 c HTR010 Heterotaxy, Visceral, 4, Autosomal 21
782 c MTR077 Mitral Valve Prolapse 2 21
783 c CWD004 Cowden Syndrome 5 20
784 c CNG521 Congenital Heart Defects, Multiple Types, 5 20
785 CNG009 Congenital Aortic Valve Stenosis 20
786 c MTR083 Mitral Valve Prolapse 3 20
787 c EXD012 Exudative Vitreoretinopathy 7 20
788 c CRN304 Coronary Artery Disease, Autosomal Dominant 2 20
789 PRC050 Pericardium Disease 20
790 ATR055 Atrial Septal Aneurysm 20
791 INT095 Internal Carotid Agenesis 20
792 INT062 Interstitial Myocarditis 20
793 c ATR047 Atrioventricular Septal Defect 2 20
794 c CNG511 Congenital Heart Defects, Multiple Types, 2 20
795 c BRG003 Brugada Syndrome 3 19
796 GRM003 German Syndrome 19
797 c MYM003 Moyamoya Disease 5 19
798 c MYM004 Moyamoya Disease 2 19
799 c BRG010 Brugada Syndrome 8 19
800 c ACT052 Acute Anterolateral Myocardial Infarction 19
801 c PSD068 Pseudohypoaldosteronism, Type Iic 19
802 c HTR020 Heterotaxy, Visceral, 8, Autosomal 19
803 c TRN053 Transient Pseudohypoaldosteronism 19
804 LTM001 Lutembacher's Syndrome 19
805 P ANT004 Anterior Cerebral Artery Infarction 19
806 VRR008 Verrucous Hemangioma 19
807 SBR011 Subaortic Stenosis--Short Stature Syndrome 19
808 c PRC052 Pericardial Effusion, Chronic 18
809 ECT085 Ectopia Cordis 18
810 c BRG004 Brugada Syndrome 4 18
811 PLY088 Polyvalvular Heart Disease Syndrome 18
812 c ANT067 Anterior Segment Dysgenesis 8 18
813 PLM027 Pulmonary Embolism and Infarction 18
814 c ATR067 Atrioventricular Septal Defect 4 18
815 DBL007 Double Outlet Left Ventricle 18
816 ATR017 Atrial Septal Defect Coronary Sinus 18
817 c LNG046 Long Qt Syndrome 11 18
818 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
819 c CWD005 Cowden Syndrome 4 18
820 c SCK022 Sick Sinus Syndrome 3 18
821 c TTR029 Tetraamelia Syndrome 2 18
822 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 18
823 c ATR065 Atrial Septal Defect 8 18
824 c ATR064 Atrioventricular Septal Defect 3 18
825 CRT061 Cor Triatriatum Dexter 18
826 PRP101 Peripheral Pulmonary Stenosis 17
827 c VNT026 Ventricular Septal Defect 2 17
828 c CHR344 Chronic Orthostatic Intolerance 17
829 CNG347 Congenital Tricuspid Stenosis 17
830 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 17
831 c LDD008 Liddle Syndrome 2 17
832 DYS135 Dysphagia Lusoria 17
833 c BRG008 Brugada Syndrome 6 17
834 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
835 c ANT087 Anterior Segment Dysgenesis 6 17
836 SBR012 Subaortic Stenosis, Membranous 17
837 c ATR056 Atrial Septal Defect 9 17
838 CRV066 Cervical Aortic Arch 17
839 MTR027 Mitral Atresia 17
840 c INF055 Infectious Myocarditis 17
841 DBL010 Double-Orifice Mitral Valve 17
842 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
843 CRN197 Coronary Arterial Fistulas 17
844 WTB001 Wet Beriberi 17
845 KMM002 Kommerell Diverticulum 17
846 CNG491 Congenital Portosystemic Shunt 17
847 c PTN012 Patent Ductus Arteriosus 3 16
848 CNG108 Congenital Mitral Stenosis 16
849 c ATR071 Atrioventricular Septal Defect 5 16
850 INT074 Intracranial Arteriosclerosis 16
851 WHT005 White Forelock with Malformations 16
852 PDT041 Pediatric Arterial Ischemic Stroke 16
853 c LDD009 Liddle Syndrome 3 16
854 ART015 Aortic Valve Prolapse 16
855 RTF001 Retiform Hemangioendothelioma 16
856 PLM065 Pulmonary Supravalvular Stenosis 16
857 ATR019 Atrial Septal Defect Sinus Venosus 16
858 RGH010 Right Ventricular Hypoplasia, Isolated 16
859 c PST018 Posterior Cerebral Artery Infarction 15
860 PRS111 Persistent Fifth Aortic Arch 15
861 CLF033 Cleft Mitral Valve 15
862 EXT062 Extracranial Carotid Artery Aneurysm 15
863 STR005 Stork Bite 15
864 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
865 FBR024 Fibrocartilaginous Embolism 14
866 ACC011 Accessory Mitral Valve Tissue 14
867 CMP077 Composite Hemangioendothelioma 14
868 c TFR001 Tfr2-Related Hereditary Hemochromatosis 14
869 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 14
870 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 14
871 PLM008 Pulmonary Subvalvular Stenosis 14
872 SPT003 Septic Myocarditis 14
873 DRL001 Dural Sinus Malformation 14
874 PLM116 Pulmonary Artery Hypoplasia 14
875 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
876 ANR045 Aneurysm of Interventricular Septum 14
877 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 14
878 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 14
879 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 14
880 MSC086 Mesocardia 13
881 MBT001 Mobitz Type Ii Atrioventricular Block 13
882 c PRV013 Periventricular Nodular Heterotopia 3 13
883 HRT005 Heart Leiomyosarcoma 13
884 SBP005 Subpulmonary Stenosis 13
885 ART091 Aorto-Ventricular Tunnel 13
886 SPR003 Superior Vena Cava Leiomyosarcoma 13
887 ART097 Aorto-Left Ventricular Tunnel 13
888 ART095 Aortic Valve Atresia 13
889 MND008 Mandibular Arteriovenous Malformation 13
890 ATR018 Atrial Septal Defect Ostium Primum 13
891 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
892 HRT002 Heart Fibrosarcoma 12
893 CNG519 Congenital Gerbode Defect 12
894 c SCN066 Secondary Erythromelalgia 12
895 c ANR022 Aneurysm, Intracranial Berry, 4 12
896 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 12
897 c MXD037 Mixed Cryoglobulinemia Type Iii 12
898 ANR037 Aneurysm or Dilatation of Ascending Aorta 12
899 SHN001 Shone Complex 12
900 JXT004 Juxtaposition of the Atrial Appendages 12
901 P AGR013 Age-Related Hearing Impairment 1 12
902 CRD014 Cardiac Diverticulum 12
903 MNC003 Monckeberg Arteriosclerosis 12
904 PRM238 Primary Intralymphatic Angioendothelioma 12
905 ABS016 Absence of the Pulmonary Artery 12
906 c ANR028 Aneurysm, Intracranial Berry, 3 11
907 c ANR011 Aneurysm, Intracranial Berry, 2 11
908 ART129 Arterial Dissection with Lentiginosis 11
909 c HYP452 Hypertension, Essential 6 11
910 c MYM005 Moyamoya Disease 3 11
911 c CNG343 Congenital Coronary Artery Aneurysm 11
912 SPT001 Septal Myocardial Infarction 11
913 ART098 Aorto-Right Ventricular Tunnel 11
914 LBR027 Laubry-Pezzi Syndrome 11
915 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 11
916 c HYP449 Hypertension, Essential 3 11
917 c HYP450 Hypertension, Essential 4 11
918 c CNG455 Congenital Aortopulmonary Window 11
919 c HYP451 Hypertension, Essential 5 10
920 PRT027 Partial Arterial Retinal Occlusion 10
921 TRN010 Transient Retinal Arterial Occlusion 10
922 c ANR023 Aneurysm, Intracranial Berry, 7 10
923 c ANR029 Aneurysm, Intracranial Berry, 6 10
924 c ANR030 Aneurysm, Intracranial Berry, 8 10
925 c ANR024 Aneurysm, Intracranial Berry, 9 10
926 c HYP447 Hypertension, Essential 1 10
927 c HYP454 Hypertension, Essential 8 10
928 c HYP448 Hypertension, Essential 2 10
929 c HYP453 Hypertension, Essential 7 10
930 PRS112 Persistent Eustachian Valve 10
931 c AGR014 Age-Related Hearing Impairment 2 10
932 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 10
933 c ATS065 Autosomal Dominant Coarctation of Aorta 10
934 CRN207 Coronary Sinus Stenosis 10
935 c CNG346 Congenital Aortic Valve Insufficiency 10
936 c ANR039 Aneurysm, Intracranial Berry, 11 10
937 c ANR026 Aneurysm, Intracranial Berry, 5 10
938 c ANR025 Aneurysm, Intracranial Berry, 10 10
939 GNN001 Genuine Diffuse Phlebectasia 9
940 IDP017 Idiopathic Dilatation of the Pulmonary Artery 9
941 KYP001 Kyphoscoliotic Heart Disease 9
942 RHM002 Rheumatic Pulmonary Valve Disease 9
943 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
944 c ATR093 Atrial Heart Septal Defect 7 9
945 PRC042 Parachute Tricuspid Valve 9
946 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 8
947 MXL013 Maxillary Arteriovenous Malformation 8
948 CRN208 Coronary Sinus Atresia 8
949 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
950 ECT107 Ectasia of the Left Atrial Appendage 8
951 ACC010 Accessory Tricuspid Valve Tissue 8
952 CLC050 Calciphylaxis Cutis 8
953 ART007 Aorta Atresia 8
954 STR011 Strictly Posterior Acute Myocardial Infarction 7
955 PRC006 Pericardium Leiomyoma 7
956 EPC003 Epicardium Lipoma 7
957 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
958 PST002 Posteroinferior Myocardial Infarction 7
959 LRY034 Laryngotracheal Angioma 7
960 PLR014 Pleuro-Pericardial Cyst 7
961 c BNG034 Benign Secondary Hypertension 7
962 TNN014 Tunnel Subaortic Stenosis 7
963 SNG013 Single-Organ Polyarteritis Nodosa 7
964 c CNG476 Congenital Systemic Arteriovenous Fistula 7
965 ACT051 Acute Inferolateral Myocardial Infarction 7
966 BRS012 Breast Angiomatosis 6
967 SPR002 Superior Vena Cava Angiosarcoma 6
968 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
969 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 6
970 HRT001 Heart Malignant Hemangiopericytoma 6
971 HRT009 Heart Lipoma 6
972 HST003 Histoplasmosis Pericarditis 6
973 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
974 c BNG028 Benign Renovascular Hypertension 6
975 ECT057 Ectasia of the Right Atrial Appendage 6
976 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 6
977 BSL005 Basal Ganglia Cerebrovascular Disease 6
978 PLM054 Pulmonary Artery Coming from the Aorta 6
979 RTN189 Retinal Capillary Malformation 6
980 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
981 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
982 MLG058 Malignant Cardiac Germ Cell Tumor 6
983 BNG024 Benign Pericardial Teratoma 6
984 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 6
985 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 6
986 CHR004 Chronic Rheumatic Pericarditis 5
987 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
988 ART099 Aortic Valve Dysplasia 5
989 PRS139 Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium 5
990 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 5
991 TRC084 Tricuspid Valve Agenesis 5
992 PRM160 Premature Closure of the Arterial Duct 5
993 CNG536 Congenital Stenosis or Atresia of the Coronary Ostium 5
994 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
995 INF012 Inferolateral Myocardial Infarct 5
996 CNG354 Congenital Complete Agenesis of Pericardium 5
997 CNG353 Congenital Partial Agenesis of Pericardium 5
998 INT219 Intramural Coronary Arterial Course 4
999 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1000 ACT050 Acute Inferoposterior Infarction 4
1001 ENC035 Encircling Double Aortic Arch 4
1002 SBN002 Subendocardial Infarction Acute Myocardial Infarction 4
1003 MLP005 Malposition of the Coronary Ostium 4
1004 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 4
1005 CRN206 Coronary Artery Intramyocardial Course 4
1006 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
1007 CNG361 Congenital Supravalvular Mitral Ring 4
1008 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
1009 ABN010 Abnormal Number of Coronary Ostia 4
1010 CNG360 Congenital Unguarded Mitral Orifice 4
1011 STR076 Straddling and/or Overriding Mitral Valve 4
1012 PRT109 Partially Involuting Congenital Hemangioma 4
1013 MTR068 Mitral Valve Agenesis 4
1014 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1015 STR075 Straddling or Overriding Tricuspid Valve 4
1016 VSC036 Visceral Calciphylaxis 4
1017 ART114 Aortopulmonary Coronary Arterial Course 4
1018 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
1019 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
1020 INT056 Intravascular Angioleiomyoma 4
1021 FRN038 Frontonasal Arteriovenous Malformation 4
1022 ATH002 Atheroembolism of Kidney 3
1023 c SCN010 Scn9a-Related Inherited Erythromelalgia 3
1024 c PRT053 Portal Hypertension Due to Infrahepatic Block 3
1025 c EDR001 Eed-Related Overgrowth 3
1026 c EZH001 Ezh2-Related Overgrowth 3
1027 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 48
1028 c DFN141 Deafness, Autosomal Recessive 12 44
1029 c DFN107 Deafness, Autosomal Dominant 10 44
1030 c DFN200 Deafness, Autosomal Dominant 17 43
1031 c DFN097 Deafness, Autosomal Recessive 1a 43
1032 c DFN250 Deafness, Autosomal Recessive 2 42
1033 c DFN354 Deafness, Autosomal Dominant 20 42
1034 c NNS007 Nonsyndromic Deafness 42
1035 c DFN203 Deafness, Autosomal Recessive 30 41
1036 c DFN202 Deafness, Autosomal Dominant 48 41
1037 c DFN196 Deafness, Autosomal Dominant 22 41
1038 c DFN117 Deafness, Autosomal Dominant 15 41
1039 c DFN351 Deafness, Autosomal Dominant 6 41
1040 c DFN251 Deafness, Autosomal Dominant 11 40
1041 c DFN197 Deafness, Autosomal Recessive 37 40
1042 c DFN136 Deafness, Autosomal Dominant 9 39
1043 c DFN092 Deafness, Autosomal Recessive 49 39
1044 c DFN353 Deafness, Autosomal Dominant 12 38
1045 c DFN130 Deafness, Autosomal Recessive 21 38
1046 c DFN168 Deafness, Autosomal Recessive 26 38
1047 c DFN124 Deafness, Autosomal Recessive 6 37
1048 c DFN120 Deafness, Autosomal Recessive 39 37
1049 c DFN201 Deafness, Autosomal Recessive 3 37
1050 c DFN093 Deafness, Autosomal Recessive 23 37
1051 c DFN131 Deafness, Autosomal Dominant 1 37
1052 c DFN137 Deafness, Autosomal Dominant 13 36
1053 c DFN133 Deafness, Autosomal Recessive 9 36
1054 c DFN252 Deafness, Autosomal Recessive 24 35
1055 c DFN094 Deafness, Autosomal Dominant 28 35
1056 c DFN330 Deafness, Autosomal Recessive 97 35
1057 c DFN192 Deafness, Autosomal Dominant 23 35
1058 c DFN128 Deafness, Autosomal Dominant 36 34
1059 c DFN249 Deafness, Autosomal Recessive 93 34
1060 c DFN352 Deafness, Autosomal Recessive 8 34
1061 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
1062 c DFN190 Deafness, Autosomal Dominant 2a 34
1063 c DFN189 Deafness, Autosomal Dominant 25 34
1064 c DFN114 Deafness, Autosomal Recessive 67 33
1065 c DFN121 Deafness, Autosomal Recessive 28 33
1066 c DFN095 Deafness, Autosomal Recessive 25 33
1067 c DFN148 Deafness, Autosomal Dominant 16 33
1068 c DFN151 Deafness, Autosomal Dominant 24 33
1069 c DFN260 Deafness, Autosomal Recessive 89 32
1070 c DFN184 Deafness, Autosomal Recessive 85 32
1071 c DFN098 Deafness, Autosomal Dominant 3a 32
1072 c DFN123 Deafness, Autosomal Recessive 79 32
1073 c DFN139 Deafness, Autosomal Recessive 29 32
1074 c DFN183 Deafness, Autosomal Recessive 83 31
1075 c DFN269 Deafness, Autosomal Recessive 98 31
1076 c DFN029 Deafness, Autosomal Recessive 51 31
1077 c DFN360 Deafness, Autosomal Dominant 69 30
1078 c DFN127 Deafness, Autosomal Recessive 7 30
1079 c DFN118 Deafness, Autosomal Dominant 44 30
1080 c DFN258 Deafness, Autosomal Recessive 48 30
1081 c DFN159 Deafness, Autosomal Dominant 5 30
1082 c DFN240 Deafness, Autosomal Recessive 96 30
1083 c DFN171 Deafness, Autosomal Recessive 33 30
1084 c DFN116 Deafness, Autosomal Recessive 74 29
1085 c DFN119 Deafness, Autosomal Dominant 50 29
1086 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
1087 c DFN150 Deafness, Autosomal Dominant 21 29
1088 c DFN262 Deafness, Autosomal Recessive 15 29
1089 c DFN111 Deafness, Autosomal Recessive 35 29
1090 c DFN143 Deafness, Autosomal Recessive 16 29
1091 c DFN178 Deafness, Autosomal Recessive 59 29
1092 c DFN160 Deafness, Autosomal Dominant 52 29
1093 c DFN246 Deafness, Autosomal Dominant 51 28
1094 c DFN244 Deafness, Autosomal Recessive 42 28
1095 c DFN181 Deafness, Autosomal Recessive 66 28
1096 c DFN108 Deafness, Autosomal Recessive 77 28
1097 c DFN112 Deafness, Autosomal Recessive 63 28
1098 c DFN154 Deafness, Autosomal Dominant 31 28
1099 c DFN170 Deafness, Autosomal Recessive 31 27
1100 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
1101 c DFN280 Deafness, Autosomal Recessive 26
1102 c DFN103 Deafness, Autosomal Recessive 1b 26
1103 c DFN284 Deafness, Autosomal Dominant 67 26
1104 c DFN248 Deafness, Autosomal Recessive 18b 26
1105 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
1106 c DFN357 Deafness, Autosomal Recessive 47 26
1107 c DFN163 Deafness, Autosomal Dominant 7 26
1108 c DFN155 Deafness, Autosomal Dominant 41 25
1109 c DFN138 Deafness, Autosomal Recessive 53 25
1110 c DFN272 Deafness, Autosomal Dominant 54 25
1111 c DFN263 Deafness, Autosomal Recessive 68 25
1112 c DFN253 Deafness, Autosomal Recessive 84a 24
1113 c DFN247 Deafness, Autosomal Recessive 18a 24
1114 c DFN166 Deafness, Autosomal Recessive 17 24
1115 c DFN266 Deafness, Autosomal Dominant 4b 24
1116 c DFN267 Deafness, Autosomal Dominant 4a 24
1117 c DFN158 Deafness, Autosomal Dominant 49 24
1118 c DFN364 Deafness, Autosomal Recessive 57 24
1119 c DFN177 Deafness, Autosomal Recessive 5 23
1120 c DFN164 Deafness, Autosomal Recessive 13 23
1121 c DFN161 Deafness, Autosomal Dominant 53 23
1122 c DFN259 Deafness, Autosomal Recessive 86 23
1123 c DFN173 Deafness, Autosomal Recessive 40 23
1124 c DFN243 Deafness, Autosomal Recessive 88 22
1125 c DFN156 Deafness, Autosomal Dominant 43 22
1126 c DFN167 Deafness, Autosomal Recessive 20 22
1127 c DFN188 Deafness, Autosomal Recessive 61 22
1128 c DFN261 Deafness, Autosomal Recessive 46 22
1129 c DFN149 Deafness, Autosomal Dominant 18 22
1130 c DFN132 Deafness, Autosomal Recessive 22 22
1131 c DFN180 Deafness, Autosomal Recessive 65 22
1132 c DFN162 Deafness, Autosomal Dominant 59 21
1133 c DFN271 Deafness, Autosomal Dominant 58 21
1134 c DFN281 Deafness, Autosomal Recessive 103 21
1135 c DFN367 Deafness, Autosomal Recessive 110 21
1136 c DFN099 Deafness, Autosomal Dominant 2b 21
1137 c DFN328 Deafness, Autosomal Dominant 72 21
1138 c DFN030 Deafness, Autosomal Recessive 55 21
1139 c DFN255 Deafness, Autosomal Dominant 64 21
1140 c DFN254 Deafness, Autosomal Recessive 84b 21
1141 c DFN169 Deafness, Autosomal Recessive 27 21
1142 c DFN333 Deafness, Autosomal Dominant 73 20
1143 c DFN369 Deafness, Autosomal Recessive 111 20
1144 c DFN257 Deafness, Autosomal Dominant 33 20
1145 c DFN153 Deafness, Autosomal Dominant 30 20
1146 c DFN172 Deafness, Autosomal Recessive 38 20
1147 c DFN174 Deafness, Autosomal Recessive 44 20
1148 c DFN361 Deafness, Autosomal Recessive 106 20
1149 c DFN157 Deafness, Autosomal Dominant 47 20
1150 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 20
1151 c DFN325 Deafness, Autosomal Recessive 108 20
1152 c DFN368 Deafness, Autosomal Dominant 74 20
1153 c DFN265 Deafness, Autosomal Recessive 76 20
1154 c DFN165 Deafness, Autosomal Recessive 14 20
1155 c DFN273 Deafness, Autosomal Recessive 101 20
1156 c DFN329 Deafness, Autosomal Dominant 66 20
1157 c DFN278 Deafness, Autosomal Dominant 65 20
1158 c DFN277 Deafness, Autosomal Recessive 102 20
1159 c DFN371 Deafness, Autosomal Recessive 112 20
1160 c DFN179 Deafness, Autosomal Recessive 62 20
1161 c DFN182 Deafness, Autosomal Recessive 71 20
1162 c DFN175 Deafness, Autosomal Recessive 45 20
1163 c DFN242 Deafness, Autosomal Recessive 70 19
1164 c DFN283 Deafness, Autosomal Recessive 104 19
1165 c DFN335 Deafness, Autosomal Dominant 71 19
1166 c DFN135 Deafness, Autosomal Recessive 91 19
1167 c DFN134 Deafness, Autosomal Dominant 40 19
1168 c DFN102 Deafness, Autosomal Dominant 3b 19
1169 c DFN152 Deafness, Autosomal Dominant 27 19
1170 c DFN274 Deafness, Autosomal Dominant 56 19
1171 c DFN365 Deafness, Autosomal Recessive 109 19
1172 c DFN327 Deafness, Autosomal Dominant 70 19
1173 c DFN337 Deafness, Autosomal Recessive 107 19
1174 c DFN336 Deafness, Autosomal Dominant 68 18
1175 P FML056 Familial Deafness 18
1176 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 17
1177 c DFN373 Deafness, Autosomal Recessive 113 15
1178 c OTF001 Otof-Related Deafness 14
1179 c DFN374 Deafness, Autosomal Recessive 100 14
1180 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 8
1181 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 8
1182 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 8
1183 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 8
1184 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 8
1185 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 8
1186 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 8
1187 P EMR001 Emery-Dreifuss Muscular Dystrophy 55
1188 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
1189 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 30
1190 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 24
1191 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 21
1192 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 16
1193 c PRM039 Primary Angiitis of the Central Nervous System 34
1194 P BNG037 Benign Angiitis of the Central Nervous System 5
1195 PRT018 Portal Vein Thrombosis 50
1196 BRG013 Buerger Disease 60
1197 P CNT056 Cantu Syndrome 50
1198 MND006 Mondor Disease 19
1199 c CNT094 Cantú Syndrome and Related Disorders 5
1200 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 5
1201 THR016 Thrombophlebitis 54
1202 ASP030 Aspirin Resistance 47
1203 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 21
1204 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6
1205 ART005 Arteriovenous Malformation 66
1206 P VNW001 Von Willebrand's Disease 62
1207 BDD001 Budd-Chiari Syndrome 59
1208 c VNW010 Von Willebrand Disease, Type 2 57
1209 P JRV004 Jervell and Lange-Nielsen Syndrome 1 51
1210 c VNW008 Von Willebrand Disease, Type 3 50
1211 c VNW005 Von Willebrand Disease, Type 1 48
1212 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 46
1213 c ACQ017 Acquired Von Willebrand Syndrome 45
1214 c PSD048 Pseudo-Von Willebrand Disease 43
1215 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 36
1216 IMM080 Immunodeficiency 23 31
1217 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 28
1218 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 9
1219 P FRD012 Friedreich Ataxia 1 66
1220 THR013 Thoracic Outlet Syndrome 56
1221 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
1222 CHR001 Churg-Strauss Syndrome 50
1223 VCS001 Vici Syndrome 45
1224 P PRS062 Persistent Hyperplastic Primary Vitreous 41
1225 c FRD006 Friedreich Ataxia 2 24
1226 RNL089 Renal Nutcracker Syndrome 23
1227 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 22
1228 THR024 Thrombosis 64
1229 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
1230 P FML012 Familial Partial Lipodystrophy 52
1231 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
1232 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 46
1233 c LPD019 Lipodystrophy, Partial, Acquired 44
1234 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
1235 GST020 Gastric Antral Vascular Ectasia 39
1236 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1237 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 28
1238 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
1239 c LPD044 Lipodystrophy, Familial Partial, Type 7 26
1240 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1241 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 24
1242 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21
1243 IRV001 Irvan Syndrome 21
1244 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1245 c HYP595 Hypertension, Essential 81
1246 P MSC005 Muscular Dystrophy 66
1247 c ACT210 Acute Respiratory Distress Syndrome 66
1248 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 65
1249 P ADL010 Adult Respiratory Distress Syndrome 64
1250 MXD005 Mixed Connective Tissue Disease 60
1251 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
1252 HYP190 Hypoalphalipoproteinemia, Primary 60
1253 CMP005 Campomelic Dysplasia 58
1254 P CRY007 Cryoglobulinemia, Familial Mixed 54
1255 CRN239 Carnitine Deficiency, Systemic Primary 54
1256 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 49
1257 INT078 Intracranial Thrombosis 48
1258 PST048 Postural Orthostatic Tachycardia Syndrome 48
1259 P OLV001 Olivopontocerebellar Atrophy 48
1260 c MSC050 Muscular Dystrophy, Congenital, 1b 48
1261 PRS030 Persistent Fetal Circulation Syndrome 47
1262 P FML187 Familial Hypertension 42
1263 ALV006 Alveolar Capillary Dysplasia 39
1264 CRD007 Cardiovascular Organ Benign Neoplasm 32
1265 c CNG112 Congenital Muscular Dystrophy Type 1a 31
1266 c JRV002 Jervell and Lange-Nielsen Syndrome 2 27
1267 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 26
1268 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 26
1269 DLF001 Dieulafoy Lesion 25
1270 c LM2001 Lama2-Related Muscular Dystrophy 22
1271 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy 20
1272 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 18
1273 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 18
1274 BRS103 Bier Spots 14
1275 c OLV005 Olivopontocerebellar Atrophy V 13
1276 c ADL080 Adult Acute Respiratory Distress Syndrome 11
1277 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 7
1278 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 2
1279 CRD024 Cardiomyopathy Diabetes Deafness 2
1280 P HRT032 Heart Disease 76
1281 P CRN018 Coronary Artery Anomaly 75
1282 DWN001 Down Syndrome 71
1283 P TTR001 Tetralogy of Fallot 70
1284 P MCR115 Microvascular Complications of Diabetes 5 70
1285 P ATR011 Atrial Fibrillation 69
1286 c THR092 Thrombophilia Due to Thrombin Defect 69
1287 ANG054 Angina Pectoris 69
1288 P CWD010 Cowden Syndrome 68
1289 ISC004 Ischemia 67
1290 P ART067 Aortic Aneurysm, Familial Thoracic 1 67
1291 MSC152 Muscular Dystrophy, Becker Type 62
1292 c THR082 Thrombophilia Due to Activated Protein C Resistance 61
1293 WLF001 Wolff-Parkinson-White Syndrome 61
1294 P END033 Endocarditis 60
1295 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60
1296 ELL001 Ellis-Van Creveld Syndrome 60
1297 c PRG042 Progressive Familial Heart Block, Type Ia 59
1298 ART141 Arteriovenous Malformations of the Brain 59
1299 ART001 Arterial Tortuosity Syndrome 59
1300 CRT016 Carotid Artery Disease 58
1301 c LYS021 Loeys-Dietz Syndrome 3 57
1302 P SHR029 Short Syndrome 57
1303 P THR015 Thrombophilia 56
1304 HMN009 Hemangioblastoma 55
1305 APP015 Apparent Mineralocorticoid Excess 55
1306 RLP001 Relapsing Polychondritis 55
1307 MTC027 Mitochondrial Trifunctional Protein Deficiency 55
1308 VRC001 Varicocele 54
1309 CTS003 Coats Disease 54
1310 P GNT009 Giant Axonal Neuropathy 53
1311 c LSS005 Lissencephaly 1 53
1312 SPR004 Supravalvular Aortic Stenosis 52
1313 CLC001 Calciphylaxis 52
1314 PST095 Post-Thrombotic Syndrome 51
1315 PRP007 Priapism 51
1316 CGN006 Cogan Syndrome 51
1317 YLL001 Yellow Nail Syndrome 50
1318 c PRG126 Progressive Familial Heart Block 50
1319 MLT145 Multiple Enchondromatosis, Maffucci Type 50
1320 c CHR431 Chronic Venous Insufficiency 50
1321 P RNL015 Renal Hypertension 49
1322 ANG011 Angiodysplasia 48
1323 P D2H002 D-2-Hydroxyglutaric Aciduria 1 48
1324 CRN017 Coronary Thrombosis 47
1325 HRT007 Heart Cancer 47
1326 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1327 P BRB001 Beriberi 46
1328 LCK001 Locked-in Syndrome 45
1329 NPH010 Nephrosclerosis 45
1330 WDM005 Wiedemann-Rautenstrauch Syndrome 44
1331 c LYS018 Loeys-Dietz Syndrome 2 44
1332 HMN016 Hemangioendothelioma 44
1333 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 43
1334 c ANT077 Anterior Segment Dysgenesis 1 43
1335 ART006 Arthus Reaction 43
1336 NRF008 Neurofibromatosis-Noonan Syndrome 43
1337 LTR003 Lateral Medullary Syndrome 43
1338 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 42
1339 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 42
1340 c PRG043 Progressive Familial Heart Block, Type Ib 41
1341 HRT010 Heart Sarcoma 41
1342 HMN035 Hemangioma-Thrombocytopenia Syndrome 41
1343 c FML001 Familial Atrial Fibrillation 40
1344 MRN001 Marantic Endocarditis 40
1345 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 39
1346 c ANT086 Anterior Segment Dysgenesis 2 39
1347 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1348 ANG065 Angioma, Tufted 39
1349 CRT004 Carotid Artery Thrombosis 38
1350 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1351 BRN036 Brain Stem Infarction 38
1352 CHL073 Cholestasis-Lymphedema Syndrome 38
1353 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 37
1354 SGT001 Sagittal Sinus Thrombosis 36
1355 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
1356 VTR010 Vitreoretinochoroidopathy 35
1357 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 35
1358 c ART071 Aortic Aneurysm, Familial Thoracic 6 34
1359 c FML294 Familial Short Qt Syndrome 34
1360 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 33
1361 c PRG101 Progressive Familial Heart Block, Type Ii 33
1362 VRH001 Verheij Syndrome 33
1363 LYM122 Lymphangiectasia, Pulmonary, Congenital 33
1364 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33
1365 HPT081 Hepatic Infarction 33
1366 LYM014 Lymphangitis 32
1367 P ANG013 Angioma Serpiginosum 32
1368 HRD083 Hereditary Antithrombin Deficiency 32
1369 c LSS010 Lissencephaly 4 32
1370 c ART068 Aortic Aneurysm, Familial Thoracic 2 31
1371 RHM008 Rheumatic Myocarditis 31
1372 CYS041 Cystic Angiomatosis of Bone, Diffuse 31
1373 RNL001 Renal Artery Obstruction 31
1374 c PSD090 Pseudohypoaldosteronism, Type Iia 31
1375 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1376 ACT032 Acute Hemorrhagic Leukoencephalitis 31
1377 PRC014 Pericardium Cancer 30
1378 c ALG016 Alagille Syndrome 2 30
1379 EXT051 Extracranial Arteriovenous Malformation 30
1380 c ART028 Aortic Aneurysm, Familial Thoracic 4 29
1381 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
1382 c ANT084 Anterior Segment Dysgenesis 3 29
1383 NST002 Nestor-Guillermo Progeria Syndrome 29
1384 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
1385 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 29
1386 c MTR080 Mitral Valve Prolapse 1 28
1387 CVR002 Cavernous Sinus Thrombosis 28
1388 CHN040 Choanal Atresia and Lymphedema 28
1389 CRN270 Coronary Artery Dissection, Spontaneous 28
1390 c FML272 Familial Sick Sinus Syndrome 27
1391 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
1392 RNL008 Renal Artery Atheroma 27
1393 INT076 Intracranial Sinus Thrombosis 27
1394 LTR002 Lateral Sinus Thrombosis 27
1395 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 26
1396 c EXD004 Exudative Vitreoretinopathy 4 26
1397 c LSS025 Lissencephaly 5 25
1398 c PSD093 Pseudohypoaldosteronism, Type Iid 25
1399 HRT003 Heart Lymphoma 25
1400 P INT260 Intracranial Berry Aneurysm 25
1401 c SCK017 Sick Sinus Syndrome 1 25
1402 c SCK014 Sick Sinus Syndrome 2 25
1403 MCR193 Microcystic Lymphatic Malformation 24
1404 P FML305 Familial Abdominal Aortic Aneurysm 24
1405 NTM001 Nutmeg Liver 23
1406 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 23
1407 HYP344 Hyperthyroidism, Familial Gestational 23
1408 c ART134 Aortic Aneurysm, Familial Thoracic 10 23
1409 c LSS035 Lissencephaly 8 23
1410 c MLG004 Malignant Hypertensive Renal Disease 23
1411 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
1412 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 22
1413 c PRV018 Periventricular Nodular Heterotopia 7 22
1414 c EXD006 Exudative Vitreoretinopathy 5 22
1415 c LNG045 Long Qt Syndrome 10 22
1416 c BRG009 Brugada Syndrome 7 21
1417 c ART105 Aortic Aneurysm, Familial Thoracic 7 21
1418 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 20
1419 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 20
1420 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1421 c ART118 Aortic Aneurysm, Familial Thoracic 9 20
1422 DFF027 Diffuse Lymphatic Malformation 20
1423 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
1424 c PRV021 Periventricular Nodular Heterotopia 8 20
1425 PRN017 Perianal Hematoma 19
1426 c D2H003 D-2-Hydroxyglutaric Aciduria 2 19
1427 c THR023 Thrombophilia Due to Thrombomodulin Defect 19
1428 c HYP708 Hyperaldosteronism, Familial, Type Iv 19
1429 c DRY002 Dry Beriberi 18
1430 c ART107 Aortic Aneurysm, Familial Thoracic 8 18
1431 KPS005 Kaposiform Lymphangiomatosis 18
1432 c ART133 Aortic Aneurysm, Familial Thoracic 11 17
1433 c ANR027 Aneurysm, Intracranial Berry, 1 17
1434 c PRT045 Prothrombin-Related Thrombophilia 16
1435 THR007 Thrombophlebitis Migrans 16
1436 ANG067 Angioma, Hereditary Neurocutaneous 15
1437 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 15
1438 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
1439 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 14
1440 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
1441 c ART151 Aortic Aneurysm, Familial Abdominal, 2 12
1442 EPC001 Epicardium Cancer 12
1443 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 11
1444 c GNT045 Giant Axonal Neuropathy 2 11
1445 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
1446 FML336 Familial Patent Arterial Duct 10
1447 PRP011 Puerperal Pulmonary Embolism 9
1448 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1449 ANG057 Angioosteohypotrophic Syndrome 9
1450 INV019 Inverse Klippel-Trénaunay Syndrome 9
1451 ANG012 Angiodysplasia of Intestine 8
1452 VNS001 Venous Tributary Occlusion of Retina 8
1453 MYC003 Myocardium Cancer 8
1454 PLM023 Pulmonary Artery Choriocarcinoma 8
1455 END017 Endocardium Cancer 7
1456 CNG337 Congenital Renal Artery Stenosis 7
1457 P BNG003 Benign Hypertensive Renal Disease 7
1458 MXD041 Mixed Cystic Lymphatic Malformation 5
1459 FML224 Familial Idiopathic Dilatation of the Right Atrium 4
1460 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
1461 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 26
1462 CRD221 Cardiospondylocarpofacial Syndrome 38
1463 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
1464 KRN002 Kearns-Sayre Syndrome 63
1465 ALS001 Alstrom Syndrome 57
1466 CMR002 Coumarin Resistance 52
1467 P PRV002 Periventricular Nodular Heterotopia 50
1468 GST012 Gastroesophageal Junction Adenocarcinoma 42
1469 P MNT135 Mental Retardation, X-Linked, Syndromic 13 41
1470 c PRV019 Periventricular Nodular Heterotopia 1 32
1471 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
1472 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 27
1473 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
1474 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 25
1475 c MNT207 Mental Retardation, X-Linked, Syndromic 32 23
1476 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
1477 c MNT197 Mental Retardation, X-Linked, Syndromic 9 21
1478 c FLN007 Flna-Related Periventricular Nodular Heterotopia 20
1479 P MYC007 Myocardial Infarction 78
1480 P PLM037 Pulmonary Hypertension 77
1481 c CWD006 Cowden Syndrome 1 73
1482 c EXD008 Exudative Vitreoretinopathy 1 72
1483 c ART115 Aortic Valve Disease 1 69
1484 c NRF024 Neurofibromatosis, Type I 68
1485 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1486 c ART138 Aortic Aneurysm, Familial Abdominal, 1 66
1487 c MCR129 Microvascular Complications of Diabetes 1 66
1488 HTC003 Hutchinson-Gilford Progeria Syndrome 65
1489 PRT058 Pure Autonomic Failure 65
1490 PLM033 Pulmonary Embolism 64
1491 P PRT008 Proteus Syndrome 64
1492 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 61
1493 c PRC016 Pre-Eclampsia 61
1494 TRN015 Transient Cerebral Ischemia 59
1495 CYS005 Cysticercosis 59
1496 ADR054 Adrenocortical Carcinoma, Hereditary 59
1497 c MCR113 Microvascular Complications of Diabetes 3 58
1498 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
1499 c HYP731 Hyperaldosteronism, Familial, Type I 56
1500 P LDD007 Liddle Syndrome 1 55
1501 c CRB191 Cerebral Cavernous Malformations 2 54
1502 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1503 c LYM145 Lymphatic Malformation 5 50
1504 P LYM127 Lymphatic Malformations 50
1505 CYS008 Cystic Echinococcosis 49
1506 P LSS002 Lissencephaly 49
1507 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1508 c LYS017 Loeys-Dietz Syndrome 4 48
1509 P ERY008 Erythromelalgia 48
1510 MCL009 Mcleod Syndrome 48
1511 c MCR120 Microvascular Complications of Diabetes 7 46
1512 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
1513 c MCR130 Microvascular Complications of Diabetes 6 43
1514 c MCR133 Microvascular Complications of Diabetes 4 43
1515 c MCR112 Microvascular Complications of Diabetes 2 42
1516 TXC011 Toxocariasis 42
1517 c MNT143 Mental Retardation, Autosomal Dominant 13 42
1518 P MNT319 Mental Retardation, Autosomal Dominant 20 41
1519 c LYM144 Lymphatic Malformation 1 41
1520 c LYM150 Lymphatic Malformation 7 40
1521 CPL013 Capillary Malformations, Congenital 38
1522 PLS002 Peliosis Hepatis 38
1523 CHP002 Chops Syndrome 38
1524 P FML156 Familial Hyperaldosteronism 37
1525 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
1526 c CRB094 Cerebral Cavernous Malformations 3 37
1527 c HYP600 Hyperaldosteronism, Familial, Type Ii 35
1528 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1529 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1530 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 34
1531 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1532 EXD009 Exudative Vitreoretinopathy 2, X-Linked 32
1533 AKL001 Au-Kline Syndrome 31
1534 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
1535 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 30
1536 c MNT185 Mental Retardation, Autosomal Dominant 7 30
1537 MGL033 Megalocornea-Mental Retardation Syndrome 30
1538 c MNT145 Mental Retardation, Autosomal Recessive 5 30
1539 c MNT210 Mental Retardation, Autosomal Recessive 42 29
1540 c MNT155 Mental Retardation, Autosomal Recessive 2 29
1541 c MNT158 Mental Retardation, Autosomal Dominant 22 29
1542 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
1543 c MYP081 Myopathy, Myofibrillar, 6 28
1544 c MNT212 Mental Retardation, Autosomal Dominant 26 28
1545 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1546 c MNT241 Mental Retardation, Autosomal Dominant 32 28
1547 c MNT246 Mental Retardation, Autosomal Dominant 38 28
1548 c MNT183 Mental Retardation, Autosomal Recessive 36 28
1549 c MNT328 Mental Retardation, Autosomal Dominant 52 28
1550 c MNT280 Mental Retardation, Autosomal Dominant 43 28
1551 c MNT157 Mental Retardation, Autosomal Dominant 18 28
1552 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1553 c MNT262 Mental Retardation, Autosomal Dominant 42 27
1554 c MNT242 Mental Retardation, Autosomal Dominant 40 27
1555 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
1556 c MNT166 Mental Retardation, Autosomal Recessive 39 27
1557 c MNT270 Mental Retardation, Autosomal Recessive 53 27
1558 c MNT226 Mental Retardation, Autosomal Dominant 31 27
1559 c MNT244 Mental Retardation, Autosomal Recessive 49 27
1560 c MNT273 Mental Retardation, Autosomal Dominant 44 26
1561 CPL002 Capillary Lymphangioma 26
1562 c MNT324 Mental Retardation, Autosomal Dominant 49 26
1563 c MNT222 Mental Retardation, Autosomal Dominant 29 26
1564 c MNT214 Mental Retardation, Autosomal Dominant 24 26
1565 c MNT184 Mental Retardation, Autosomal Dominant 11 26
1566 c MNT239 Mental Retardation, Autosomal Dominant 35 26
1567 c MNT287 Mental Retardation, Autosomal Recessive 57 26
1568 c MNT176 Mental Retardation, Autosomal Recessive 38 26
1569 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1570 c MNT325 Mental Retardation, Autosomal Recessive 61 26
1571 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1572 c MNT322 Mental Retardation, Autosomal Dominant 27 26
1573 c MNT211 Mental Retardation, Autosomal Dominant 23 26
1574 c MNT150 Mental Retardation, Autosomal Recessive 15 26
1575 CMP075 Campomelia, Cumming Type 26
1576 c MNT219 Mental Retardation, Autosomal Dominant 30 25
1577 c MNT238 Mental Retardation, Autosomal Dominant 34 25
1578 c LYM149 Lymphatic Malformation 6 25
1579 c MNT177 Mental Retardation, Autosomal Recessive 27 25
1580 c MNT332 Mental Retardation, Autosomal Dominant 56 25
1581 c MNT321 Mental Retardation, Autosomal Recessive 37 25
1582 c MNT186 Mental Retardation, Autosomal Dominant 10 25
1583 c MNT272 Mental Retardation, Autosomal Dominant 41 25
1584 c MNT245 Mental Retardation, Autosomal Dominant 36 25
1585 c MNT227 Mental Retardation, Autosomal Recessive 46 25
1586 c MNT337 Mental Retardation, Autosomal Dominant 58 24
1587 c MNT221 Mental Retardation, Autosomal Recessive 44 24
1588 c MNT179 Mental Retardation, Autosomal Dominant 21 24
1589 c MNT154 Mental Retardation, Autosomal Recessive 14 24
1590 c LYM148 Lymphatic Malformation 4 24
1591 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 24
1592 c MNT327 Mental Retardation, Autosomal Dominant 51 24
1593 SBC025 Subcortical Arteriosclerotic Encephalopathy 24
1594 c MNT285 Mental Retardation, Autosomal Recessive 58 24
1595 c MNT323 Mental Retardation, Autosomal Dominant 48 24
1596 c MNT329 Mental Retardation, Autosomal Dominant 53 24
1597 c MNT339 Mental Retardation, Autosomal Recessive 66 24
1598 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
1599 c MNT330 Mental Retardation, Autosomal Dominant 54 23
1600 c MNT286 Mental Retardation, Autosomal Dominant 45 23
1601 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1602 c MNT181 Mental Retardation, Autosomal Recessive 35 23
1603 c MNT338 Mental Retardation, Autosomal Recessive 65 23
1604 c MNT234 Mental Retardation, Autosomal Recessive 48 23
1605 c MNT215 Mental Retardation, Autosomal Recessive 43 22
1606 c MNT336 Mental Retardation, Autosomal Recessive 64 22
1607 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 22
1608 c MNT220 Mental Retardation, Autosomal Recessive 45 22
1609 c MNT225 Mental Retardation, Autosomal Recessive 47 22
1610 c MNT162 Mental Retardation, Autosomal Recessive 24 22
1611 c MNT278 Mental Retardation, Autosomal Dominant 46 21
1612 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1613 c LYM147 Lymphatic Malformation 3 21
1614 c MNT151 Mental Retardation, Autosomal Recessive 18 21
1615 c MNT263 Mental Retardation, Autosomal Recessive 51 21
1616 c MNT172 Mental Retardation, Autosomal Recessive 25 21
1617 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1618 c MNT335 Mental Retardation, Autosomal Recessive 63 21
1619 c MNT165 Mental Retardation, Autosomal Recessive 28 21
1620 c MNT264 Mental Retardation, Autosomal Recessive 52 21
1621 c MNT163 Mental Retardation, Autosomal Recessive 30 20
1622 c MNT182 Mental Retardation, Autosomal Recessive 19 20
1623 c ATR026 Atrial Fibrillation, Familial, 1 20
1624 c MNT277 Mental Retardation, Autosomal Recessive 54 20
1625 c MNT281 Mental Retardation, Autosomal Recessive 59 20
1626 c MNT243 Mental Retardation, Autosomal Recessive 50 20
1627 c MNT170 Mental Retardation, Autosomal Recessive 23 20
1628 c MNT167 Mental Retardation, Autosomal Recessive 16 20
1629 c MNT180 Mental Retardation, Autosomal Recessive 33 20
1630 c MNT284 Mental Retardation, Autosomal Recessive 56 20
1631 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
1632 c ATR092 Atrial Fibrillation, Familial, 15 19
1633 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
1634 c MNT161 Mental Retardation, Autosomal Recessive 29 19
1635 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 18
1636 c MNT160 Mental Retardation, Autosomal Recessive 31 18
1637 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 18
1638 c ATR085 Atrial Fibrillation, Familial, 18 18
1639 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 17
1640 c LYM146 Lymphatic Malformation 2 15
1641 c ATR027 Atrial Fibrillation, Familial, 5 14
1642 c ATR025 Atrial Fibrillation, Familial, 2 13
1643 c ATR028 Atrial Fibrillation, Familial, 8 13
1644 c ATS394 Autosomal Dominant Mental Retardation 55 11
1645 NRD064 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 8
1646 STR067 Stroke, Ischemic 82
1647 P ALZ034 Alzheimer Disease 87
1648 c PLM164 Pulmonary Hypertension, Primary, 1 70
1649 c ALZ049 Alzheimer Disease 2 60
1650 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 60
1651 INT030 Intracranial Aneurysm 59
1652 c ALZ056 Alzheimer Disease 3 53
1653 RYN005 Raynaud Phenomenon 52
1654 c ALZ054 Alzheimer Disease 4 50
1655 P EXD001 Exudative Vitreoretinopathy 50
1656 c ALZ050 Alzheimer Disease 5 47
1657 SYD002 Sydenham Chorea 47
1658 c ALZ063 Alzheimer's Disease 1 40
1659 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 38
1660 HYP249 Hyperthyroidism, Nonautoimmune 32
1661 WYB002 Wyburn-Mason Syndrome 31
1662 LYM094 Lymphedema, Primary, with Myelodysplasia 31
1663 c RNL113 Renal Failure, Progressive, with Hypertension 30
1664 c ALZ012 Alzheimer Disease 12 27
1665 c ALZ045 Alzheimer Disease 9 27
1666 c ALZ016 Alzheimer Disease 8 26
1667 c MNT236 Mental Retardation, Autosomal Dominant 39 26
1668 c MNT334 Mental Retardation, Autosomal Dominant 57 25
1669 c MNT282 Mental Retardation, Autosomal Recessive 55 25
1670 c ALZ015 Alzheimer Disease 6 24
1671 c ALZ062 Alzheimer Disease 19 24
1672 c ALZ057 Alzheimer Disease 10 22
1673 c ALZ053 Alzheimer Disease 7 22
1674 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1675 FXL001 Foix-Alajouanine Syndrome 20
1676 c ALZ061 Alzheimer Disease 15 19
1677 c ALZ032 Alzheimer Disease 18 18
1678 c ALZ059 Alzheimer Disease 13 17
1679 c ALZ058 Alzheimer Disease 11 16
1680 c ALZ060 Alzheimer Disease 14 15
1681 c ALZ031 Alzheimer Disease 17 15
1682 c ALZ014 Alzheimer Disease 16 14
1683 c LYS019 Loeys-Dietz Syndrome 1 57
1684 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1685 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1686 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1687 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1688 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
1689 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1690 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1691 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1692 c ATR061 Atrial Fibrillation, Familial, 10 21
1693 c ATR038 Atrial Fibrillation, Familial, 3 21
1694 c ATR035 Atrial Fibrillation, Familial, 6 21
1695 c ATR059 Atrial Fibrillation, Familial, 11 20
1696 c ATR072 Atrial Fibrillation, Familial, 13 20
1697 c ATR037 Atrial Fibrillation, Familial, 7 19
1698 c ATR039 Atrial Fibrillation, Familial, 4 19
1699 c ATR069 Atrial Fibrillation, Familial, 12 19
1700 c ATR068 Atrial Fibrillation, Familial, 14 18
1701 c ATR070 Atrial Fibrillation, Familial, 9 16
1702 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
1703 RRR001 Rere-Related Disorders 59
1704 c CRB051 Cerebral Cavernous Malformation, Familial 25



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