Cardiovascular Diseases Category (2135 diseases)


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

# Family MCID Name MIFTS
1 DNN001 Danon Disease 60
2 MCR066 Microcephaly-Cardiomyopathy 21
3 CMB025 Combined Oxidative Phosphorylation Deficiency 10 40
4 VNF001 Vein of Galen Aneurysm 23
5 c MYP072 Myopathy, Myofibrillar, 1 57
6 c MYP078 Myopathy, Myofibrillar, 3 54
7 c MYP079 Myopathy, Myofibrillar, 5 49
8 P MYF003 Myofibrillar Myopathy 48
9 c MYP081 Myopathy, Myofibrillar, 6 46
10 c MYP082 Myopathy, Myofibrillar, 2 45
11 c MYP080 Myopathy, Myofibrillar, 4 45
12 c MYP119 Myopathy, Myofibrillar, 7 35
13 c MYP118 Myopathy, Myofibrillar, 8 34
14 c MYF011 Myofibrillar Myopathy 10 23
15 c MYF012 Myofibrillar Myopathy 11 22
16 PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 28
17 P CRN133 Coronary Artery Disease, Autosomal Dominant, 1 33
18 ABR001 Aberrant Subclavian Artery 24
19 TMM013 Tmem70 Defect 21
20 CRD137 Cardiogenic Shock 54
21 SLH001 Salih Myopathy 38
22 CNJ005 Conjunctival Vascular Disease 29
23 MTC211 Mitochondrial Complex Iv Deficiency, Nuclear Type 13 22
24 c CRD264 Cardiomyopathy, Familial Hypertrophic, 27 26
25 CRD023 Cardiomyopathy Cataract Hip Spine Disease 19
26 c GCH015 Gaucher Disease, Type I 70
27 P GCH001 Gaucher's Disease 68
28 c GCH017 Gaucher Disease, Type Iii 58
29 c GCH016 Gaucher Disease, Type Ii 52
30 c GCH013 Gaucher Disease, Type Iiic 46
31 SPR007 Superior Mesenteric Artery Syndrome 37
32 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 34
33 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 24
34 VSC052 Vasculitis, Lymphocytic, Nodular 24
35 HYP887 Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation 9
36 c PSD023 Pseudo-Gaucher Disease 9
37 c GLY008 Glycogen Storage Disease Ii 72
38 P CRD224 Cardiofaciocutaneous Syndrome 1 70
39 c GLY060 Glycogen Storage Disease Ia 66
40 c GLY004 Glycogen Storage Disease V 65
41 c GLY003 Glycogen Storage Disease Iii 65
42 c GLY007 Glycogen Storage Disease Iv 64
43 c GLY005 Glycogen Storage Disease Vi 59
44 P GLY013 Glycogen Storage Disease 59
45 ACH005 Achalasia 57
46 c GLY011 Glycogen Storage Disease Vii 57
47 c GLY097 Glycogen Storage Disease Ixb 49
48 c GLY115 Glycogen Storage Disease Ixd 48
49 c GLY016 Glycogen Storage Disease Ib 46
50 c GLY009 Glycogen Storage Disease Xv 46
51 c GLY044 Glycogen Storage Disease Ixc 43
52 c GLY057 Glycogen Storage Disease X 38
53 c GLY043 Glycogen Storage Disease Xii 37
54 c GLY006 Glycogen Storage Disease Viii 36
55 c CRN214 Coronary Heart Disease 5 35
56 c CRD164 Cardiofaciocutaneous Syndrome 3 35
57 c CRD167 Cardiofaciocutaneous Syndrome 4 33
58 c CRD163 Cardiofaciocutaneous Syndrome 2 32
59 MTC037 Mitochondrial Phosphate Carrier Deficiency 32
60 c GLY017 Glycogen Storage Disease Ic 32
61 c GLY023 Glycogen Storage Disease Type 0 30
62 LGH013 Leigh Syndrome with Cardiomyopathy 30
63 c GLY059 Glycogen Storage Disease Xiii 29
64 c GLY093 Glycogen Storage Disease Ixa 28
65 c GLY001 Glycogen Storage Disease Ix 23
66 c CRN304 Coronary Artery Disease, Autosomal Dominant 2 21
67 MTC210 Mitochondrial Complex Iv Deficiency, Nuclear Type 9 17
68 VSC009 Vascular Skin Disease 14
69 GLY109 Glycogen Storage Disease with Hypertrophic Cardiomyopathy 4
70 c MCR256 Microphthalmia, Syndromic 9 68
71 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
72 c MCR241 Microphthalmia, Syndromic 3 59
73 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
74 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
75 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
76 c MCR261 Microphthalmia, Syndromic 2 52
77 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
78 c MCR263 Microphthalmia, Syndromic 1 51
79 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
80 c MCR251 Microphthalmia, Syndromic 6 50
81 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
82 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
83 P MTC010 Mitochondrial Dna Depletion Syndrome 47
84 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
85 c MCR245 Microphthalmia, Syndromic 8 46
86 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
87 c MCR252 Microphthalmia, Syndromic 5 43
88 c MCR212 Microphthalmia, Syndromic 12 42
89 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
90 c MCR312 Microphthalmia, Syndromic 10 40
91 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
92 FML304 Familial Isolated Dilated Cardiomyopathy 35
93 P SYN165 Syndromic Microphthalmia 34
94 c MCR228 Microphthalmia, Syndromic 13 33
95 CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 32
96 c MCR392 Microphthalmia, Syndromic 16 30
97 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
98 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
99 VSC001 Vascular Myelopathy 24
100 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
101 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
102 c MCR217 Microphthalmia, Syndromic 11 23
103 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
104 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
105 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
106 c CRD251 Cardiomyopathy, Familial Hypertrophic, 28 22
107 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
108 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
109 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
110 c MTC014 Mitochondrial Dna Deletion Syndromes 15
111 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
112 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
113 CRN027 Corneal Neovascularization 48
114 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 34
115 MYT019 May-Thurner Syndrome 26
116 ALL002 Allergic Cutaneous Vasculitis 23
117 DXR001 Doxorubicin Induced Cardiomyopathy 19
118 INT095 Internal Carotid Agenesis 17
119 PRM285 Primitive Portal Vein Thrombosis 15
120 P ATR081 Atrial Standstill 37
121 FML293 Familial Isolated Restrictive Cardiomyopathy 28
122 VSC004 Vasculogenic Impotence 27
123 PRM380 Primary Triglyceride Deposit Cardiomyovasculopathy 17
124 PRP097 Prepapillary Vascular Loops 15
125 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 12
126 CRD018 Cardioauditory Syndrome of Sanchez Cascos 11
127 KSZ001 Kasznica Carlson Coppedge Syndrome 8
128 DPC001 Deep Corneal Vascularisation 7
129 P INT354 Interstitial Lung Disease Specific to Childhood 7
130 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
131 MTC194 Mitochondrial Disease with Hypertrophic Cardiomyopathy 6
132 DDN026 Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery, and Absent Superior Mesenteric Artery 6
133 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
134 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
135 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
136 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
137 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
138 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
139 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
140 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
141 CNG570 Congenital Disorder of Glycosylation with Dilated Cardiomyopathy 4
142 P CRN300 Coronary Heart Disease 1 72
143 KRT019 Keratitis, Hereditary 67
144 RHM014 Rheumatoid Vasculitis 36
145 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
146 HRT018 Heart-Hand Syndrome, Slovenian Type 25
147 CTR188 Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy 23
148 IMM262 Immunodeficiency 93 and Hypertrophic Cardiomyopathy 23
149 MYP166 Myopathy, Myofibrillar, 12, Infantile-Onset, with Cardiomyopathy 22
150 HYP874 Hypotaurinemic Retinal Degeneration and Cardiomyopathy 19
151 c CRN174 Coronary Heart Disease 2 18
152 c CRN178 Coronary Heart Disease 6 18
153 c CRN177 Coronary Heart Disease 7 17
154 c CRN172 Coronary Heart Disease 3 16
155 c CRN175 Coronary Heart Disease 4 14
156 c CRN173 Coronary Heart Disease 8 14
157 c CRN176 Coronary Heart Disease 9 13
158 P ADM011 Adams-Oliver Syndrome 57
159 PLC005 Placental Insufficiency 55
160 c ADM005 Adams-Oliver Syndrome 1 42
161 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41
162 VSC064 Vascular Parkinsonism 39
163 CMB049 Combined Oxidative Phosphorylation Deficiency 17 36
164 c ADM007 Adams-Oliver Syndrome 2 34
165 SBC014 Subclavian Steal Syndrome 34
166 c ADM010 Adams-Oliver Syndrome 5 33
167 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 31
168 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 29
169 CRR012 Cirrhotic Cardiomyopathy 29
170 XLN199 X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome 29
171 c ADM012 Adams-Oliver Syndrome 6 26
172 P CRD249 Cardioacrofacial Dysplasia 2 25
173 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 24
174 c ARR051 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 22
175 DPH031 Diaphragmatic Hernia 4, with Cardiovascular Defects 20
176 c CRD248 Cardioacrofacial Dysplasia 1 18
177 KDN026 Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome 13
178 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 10
179 FBR090 Fibro-Adipose Vascular Anomaly 9
180 VLC001 Velocardiofacial Syndrome 52
181 P ART106 Arterial Calcification, Generalized, of Infancy, 1 44
182 P LPR012 Leopard Syndrome 1 42
183 c CNG379 Congenital Disorder of Glycosylation, Type It 42
184 HNZ004 Heinz Body Anemias 41
185 c LPR011 Leopard Syndrome 2 38
186 CHR067 Chronic Intestinal Vascular Insufficiency 33
187 c LPR007 Leopard Syndrome 3 28
188 c ADM009 Adams-Oliver Syndrome 4 27
189 c ART102 Arterial Calcification, Generalized, of Infancy, 2 26
190 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
191 c ADM008 Adams-Oliver Syndrome 3 24
192 c CRT085 Carotid Intimal Medial Thickness 2 23
193 CRD235 Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 21
194 P CRT043 Carotid Intimal Medial Thickness 1 18
195 FBR024 Fibrocartilaginous Embolism 15
196 ISL156 Isolated Splenic Vein Thrombosis 14
197 c LMN001 Lmna-Related Dilated Cardiomyopathy 13
198 MSX002 Mesoaxial Hexadactyly and Cardiac Malformation 12
199 PRT256 Portosinusoidal Vascular Disease 12
200 HMP031 Hemophilia a with Vascular Abnormality 12
201 UNL013 Unilateral Absence of a Pulmonary Artery 12
202 PRT124 Portal Vein, Cavernous Transformation of 11
203 UNC021 Unclassified Cardiomyopathy 11
204 ENC053 Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 11
205 SPL069 Splenoportal Vascular Anomalies 11
206 ATX044 Ataxia, Deafness, and Cardiomyopathy 11
207 DST099 Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 10
208 CNG566 Congenital Vascular Bone Syndrome 10
209 CRD009 Cardioencephalomyopathy 9
210 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
211 CRD230 Cardiomyopathy Associated with Myopathy and Sudden Death 8
212 INT315 Internal Carotid Artery, Spontaneous Dissection of 8
213 ECT028 Ectrodactyly Cardiopathy Dysmorphism 8
214 VNL003 Venular Insufficiency, Systemic 7
215 ANT033 Anterior Spinal Artery Stroke 7
216 SYN114 Syndrome Associated with Hypertrophic Cardiomyopathy 7
217 c RRH034 Rare Hypertrophic Cardiomyopathy 7
218 PPK001 Piepkorn Karp Hickok Syndrome 6
219 PNC121 Pancytopenia and Occlusive Vascular Disease 6
220 SYN113 Syndrome Associated with Dilated Cardiomyopathy 5
221 PLY002 Polyneuropathy in Collagen Vascular Disease 5
222 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
223 c CRD027 Cardiomyopathy Due to Anthracyclines 5
224 P GNT128 Genetic Vascular Anomaly 5
225 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
226 CNG063 Congenital Cardiovascular Shunt 4
227 VNS014 Veins, Pattern of, on Anterior Thorax 4
228 VSC051 Vascular Helix of Umbilical Cord 4
229 c NNF010 Non-Familial Rare Disease with Dilated Cardiomyopathy 3
230 GNT146 Genetic Complex Vascular Malformation with Associated Anomalies 3
231 CRB207 Cerebral Diseases of Vascular Origin with Epilepsy 3
232 SYS079 Systemic Vasculitis Associated with Glomerulopathy 3
233 RRG032 Rare Genetic Vascular Tumor 3
234 NRM020 Neuromuscular Disease with Dilated Cardiomyopathy 3
235 MTC193 Mitochondrial Disease with Dilated Cardiomyopathy 2
236 FTT009 Fatty Acid Oxidation and Ketogenesis Disorder with Dilated Cardiomyopathy 2
237 FTT010 Fatty Acid Oxidation and Ketogenesis Disorder with Hypertrophic Cardiomyopathy 2
238 LYS025 Lysosomal Disease with Hypertrophic Cardiomyopathy 2
239 LYS026 Lysosomal Disease with Restrictive Cardiomyopathy 2
240 CRD024 Cardiomyopathy Diabetes Deafness 2
241 SPS017 Spastic Angina with Healthy Coronary Artery 1
242 CRD021 Cardiomelic Syndrome Stratton Koehler Type 1
243 CRD020 Cardiofacial Syndrome Short Limbs 1
244 CRD030 Cardiomyopathy Spherocytosis 1
245 CLF007 Cleft Lip and Palate Malrotation Cardiopathy 1
246 c HYP595 Hypertension, Essential 86
247 P ART067 Aortic Aneurysm, Familial Thoracic 1 81
248 STR067 Stroke, Ischemic 81
249 P HRT032 Heart Disease 80
250 P MRF001 Marfan Syndrome 77
251 P MYC007 Myocardial Infarction 68
252 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 67
253 c PRG042 Progressive Familial Heart Block, Type Ia 67
254 ANG054 Angina Pectoris 66
255 c PRC016 Pre-Eclampsia 65
256 c ART028 Aortic Aneurysm, Familial Thoracic 4 65
257 P LYS001 Loeys-Dietz Syndrome 65
258 ORT004 Orthostatic Intolerance 64
259 P HYP055 Hypoplastic Left Heart Syndrome 63
260 RHM001 Rheumatic Fever 62
261 INT002 Intermittent Claudication 60
262 RGH009 Right Atrial Isomerism 60
263 c ACT075 Acute Myocardial Infarction 59
264 P ATR010 Atrial Heart Septal Defect 58
265 DXT001 Dextrocardia 57
266 c BRG005 Brugada Syndrome 1 56
267 RYN001 Raynaud Disease 56
268 P VSC013 Visceral Heterotaxy 56
269 P MTR003 Mitral Valve Stenosis 55
270 HPT046 Hepatic Veno-Occlusive Disease 55
271 P VNS003 Venous Insufficiency 55
272 c PRG043 Progressive Familial Heart Block, Type Ib 54
273 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 54
274 PRC013 Pericarditis 54
275 c MTR002 Mitral Valve Insufficiency 54
276 INT007 Intermediate Coronary Syndrome 54
277 LMB062 Limb Ischemia 54
278 ATR057 Atrioventricular Block 53
279 ART004 Aortic Atherosclerosis 53
280 P MTR012 Mitral Valve Disease 53
281 c PRG126 Progressive Familial Heart Block 53
282 ART074 Aortic Dissection 52
283 THR099 Third-Degree Atrioventricular Block 51
284 TLN003 Telangiectasis 51
285 INT276 Interatrial Communication 51
286 P PRC012 Pericardial Effusion 50
287 P TRC087 Tricuspid Valve Disease 50
288 CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 50
289 HRT011 Heart Septal Defect 49
290 c TRC022 Tricuspid Valve Insufficiency 49
291 DBT006 Diabetic Macular Edema 49
292 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 49
293 RGH001 Right Bundle Branch Block 48
294 TXC011 Toxocariasis 48
295 INT010 Intracranial Embolism 47
296 c ANT085 Anterior Segment Dysgenesis 5 47
297 P RNV001 Renovascular Hypertension 47
298 c CHR431 Chronic Venous Insufficiency 47
299 P ATR066 Atrial Septal Defect 2 47
300 c BRG004 Brugada Syndrome 4 47
301 LFT001 Left Bundle Branch Hemiblock 47
302 c ART159 Aortic Valve Disease 3 46
303 c SVR005 Severe Pre-Eclampsia 46
304 HMP001 Hemopericardium 46
305 c ACT076 Acute Myocarditis 46
306 SYS003 Systolic Heart Failure 45
307 SNT005 Sinoatrial Node Disease 45
308 CRD001 Cardiac Tamponade 45
309 MYC005 Myocardial Stunning 44
310 CRB008 Cerebral Atherosclerosis 44
311 c LNG098 Long Qt Syndrome 14 44
312 P MLG069 Malignant Hypertension 44
313 ART012 Aortitis 43
314 c LNG096 Long Qt Syndrome 15 43
315 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 43
316 DST006 Diastolic Heart Failure 43
317 P HRT035 Heart Block, Congenital 42
318 c LNG056 Long Qt Syndrome 12 42
319 ART017 Aortic Disease 42
320 c LNG057 Long Qt Syndrome 13 42
321 c LNG046 Long Qt Syndrome 11 42
322 BLR027 Blue Rubber Bleb Nevus 42
323 c ATR062 Atrial Septal Defect 1 42
324 c ATM022 Autoimmune Myocarditis 42
325 CNS002 Constrictive Pericarditis 42
326 c CNG404 Congenital Heart Defects, Multiple Types, 4 41
327 GNR003 Generalized Atherosclerosis 41
328 FRS012 First-Degree Atrioventricular Block 41
329 c HYP543 Hypoplastic Left Heart Syndrome 1 40
330 c BRG007 Brugada Syndrome 5 40
331 CMB082 Combined Oxidative Phosphorylation Deficiency 33 40
332 SCN049 Second-Degree Atrioventricular Block 40
333 NNN033 Noonan Syndrome and Noonan-Related Syndrome 40
334 CHL070 Cholesterol Embolism 39
335 AKL001 Au-Kline Syndrome 39
336 c HTR021 Heterotaxy, Visceral, 5, Autosomal 39
337 ACT056 Acute Cor Pulmonale 39
338 PRC005 Pericardial Tuberculosis 39
339 PHC018 Phace Association 39
340 ART008 Arteriosclerosis Obliterans 39
341 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 38
342 SVR002 Severe Nonproliferative Diabetic Retinopathy 38
343 c ATR023 Atrial Septal Defect 5 38
344 HRT008 Heart Conduction Disease 37
345 SPN031 Supine Hypotensive Syndrome 37
346 MD1003 Med13l Haploinsufficiency Syndrome 37
347 CRN020 Coronary Restenosis 36
348 HRT006 Heart Aneurysm 36
349 ART010 Arteriolosclerosis 36
350 CPL005 Capillary Disease 35
351 c ATR065 Atrial Septal Defect 8 34
352 HST004 Histiocytoid Hemangioma 34
353 MLD002 Mild Pre-Eclampsia 34
354 TRC007 Tricuspid Valve Prolapse 34
355 CRB031 Cerebral Arterial Disease 33
356 DRS001 Dressler's Syndrome 33
357 INF013 Inferior Myocardial Infarction 33
358 c MLG003 Malignant Renovascular Hypertension 32
359 SSC001 Susac Syndrome 32
360 P ANT001 Anterolateral Myocardial Infarction 32
361 c HTR010 Heterotaxy, Visceral, 4, Autosomal 32
362 c BRG008 Brugada Syndrome 6 31
363 KSH001 Keshan Disease 31
364 SLN001 Silent Myocardial Infarction 31
365 ATY002 Atypical Choroid Plexus Papilloma 31
366 P PRC050 Pericardium Disease 31
367 INT034 Intracranial Cavernous Angioma 31
368 c BRG012 Brugada Syndrome 9 30
369 P GLM006 Glomangioma 30
370 SPT002 Septicemic Plague 30
371 c ART071 Aortic Aneurysm, Familial Thoracic 6 29
372 c EXD010 Exudative Vitreoretinopathy 6 29
373 c ART105 Aortic Aneurysm, Familial Thoracic 7 29
374 c BRG006 Brugada Syndrome 2 29
375 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
376 c ATR022 Atrial Septal Defect 3 29
377 c ART134 Aortic Aneurysm, Familial Thoracic 10 28
378 c ACT052 Acute Anterolateral Myocardial Infarction 28
379 c MLG080 Malignant Secondary Hypertension 28
380 c SYS066 Systemic Polyarteritis Nodosa 28
381 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
382 WRF006 Warfarin Sensitivity, X-Linked 27
383 c MYM004 Moyamoya Disease 2 27
384 c PSD068 Pseudohypoaldosteronism, Type Iic 27
385 LBM007 Libman-Sacks Endocarditis 27
386 RTR006 Retroperitoneal Hemangiopericytoma 27
387 c PRG101 Progressive Familial Heart Block, Type Ii 27
388 c ATR056 Atrial Septal Defect 9 27
389 c ATR093 Atrial Heart Septal Defect 7 27
390 c CNG511 Congenital Heart Defects, Multiple Types, 2 26
391 LTM001 Lutembacher's Syndrome 26
392 c ATR031 Atrial Septal Defect 4 26
393 c HTR020 Heterotaxy, Visceral, 8, Autosomal 26
394 c HTR023 Heterotaxy, Visceral, 6, Autosomal 26
395 DRL001 Dural Sinus Malformation 26
396 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
397 DFF022 Diffuse Neonatal Hemangiomatosis 25
398 END074 Endocardium Disease 25
399 c CNG521 Congenital Heart Defects, Multiple Types, 5 25
400 c BNG021 Benign Essential Hypertension 25
401 CRD014 Cardiac Diverticulum 25
402 ATR017 Atrial Septal Defect Coronary Sinus 25
403 c ART107 Aortic Aneurysm, Familial Thoracic 8 25
404 INT074 Intracranial Arteriosclerosis 25
405 HRT005 Heart Leiomyosarcoma 25
406 TXC010 Toxic Myocarditis 25
407 c EXD007 Exudative Vitreoretinopathy 3 25
408 FDL001 Fiedler's Myocarditis 24
409 ATR019 Atrial Septal Defect Sinus Venosus 24
410 INT077 Intracranial Structure Hemangioma 24
411 c CNG616 Congenital Heart Defects, Multiple Types, 7 24
412 MTR027 Mitral Atresia 23
413 c MLG039 Malignant Essential Hypertension 23
414 c VNT026 Ventricular Septal Defect 2 23
415 c ART118 Aortic Aneurysm, Familial Thoracic 9 23
416 c ANT010 Anterior Compartment Syndrome 23
417 ART015 Aortic Valve Prolapse 22
418 ANT005 Anteroseptal Myocardial Infarction 22
419 MNC003 Monckeberg Arteriosclerosis 22
420 c ACQ004 Acquired Hemangioma 22
421 c HTR029 Heterotaxy, Visceral, 12, Autosomal 22
422 c HYP517 Hypoplastic Left Heart Syndrome 2 22
423 GLM003 Glomangiomyoma 22
424 CNG009 Congenital Aortic Valve Stenosis 22
425 c PST001 Posterior Myocardial Infarction 22
426 VNS002 Venous Hemangioma 22
427 c ART133 Aortic Aneurysm, Familial Thoracic 11 21
428 c ART068 Aortic Aneurysm, Familial Thoracic 2 21
429 c ART174 Aortic Aneurysm, Familial Thoracic 12 21
430 c MYC058 Myocardial Infarction 2 21
431 MBT001 Mobitz Type Ii Atrioventricular Block 21
432 TRK001 Triokinase and Fmn Cyclase Deficiency Syndrome 21
433 c PRC052 Pericardial Effusion, Chronic 20
434 DSC003 Discrete Subaortic Stenosis 20
435 c INF055 Infectious Myocarditis 19
436 QDR002 Quadricuspid Aortic Valve 19
437 SBN001 Subendocardial Myocardial Infarction 19
438 INT062 Interstitial Myocarditis 19
439 CNV001 Conventional Angiosarcoma 18
440 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
441 PRM238 Primary Intralymphatic Angioendothelioma 17
442 CMP077 Composite Hemangioendothelioma 17
443 LTR004 Lateral Myocardial Infarction 17
444 ART091 Aorto-Ventricular Tunnel 17
445 CRV066 Cervical Aortic Arch 17
446 APC001 Apical Myocardial Infarction 16
447 ANR045 Aneurysm of Interventricular Septum 16
448 SBP005 Subpulmonary Stenosis 16
449 PST017 Posterolateral Myocardial Infarction 15
450 SPT001 Septal Myocardial Infarction 15
451 ACT051 Acute Inferolateral Myocardial Infarction 15
452 STR005 Stork Bite 15
453 PRS111 Persistent Fifth Aortic Arch 15
454 ACC011 Accessory Mitral Valve Tissue 14
455 SPT003 Septic Myocarditis 14
456 ECT107 Ectasia of the Left Atrial Appendage 14
457 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
458 c BNG028 Benign Renovascular Hypertension 13
459 c ANR029 Aneurysm, Intracranial Berry, 6 13
460 INT056 Intravascular Angioleiomyoma 13
461 ART097 Aorto-Left Ventricular Tunnel 13
462 c ANR025 Aneurysm, Intracranial Berry, 10 12
463 KYP001 Kyphoscoliotic Heart Disease 12
464 c FBN003 Fbn1-Related Marfan Syndrome 11
465 c BNG034 Benign Secondary Hypertension 11
466 TNN014 Tunnel Subaortic Stenosis 11
467 CHR004 Chronic Rheumatic Pericarditis 11
468 SBR012 Subaortic Stenosis, Membranous 11
469 c HYP447 Hypertension, Essential 1 11
470 FCL058 Facial Arteriovenous Malformation 11
471 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 11
472 c HYP452 Hypertension, Essential 6 11
473 c HYP449 Hypertension, Essential 3 11
474 PRC042 Parachute Tricuspid Valve 11
475 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 10
476 LFT022 Left Sided Atrial Isomerism 10
477 INF012 Inferolateral Myocardial Infarct 10
478 c HYP448 Hypertension, Essential 2 10
479 c HYP450 Hypertension, Essential 4 10
480 CRN207 Coronary Sinus Stenosis 10
481 ART007 Aorta Atresia 10
482 PLR014 Pleuro-Pericardial Cyst 10
483 XLN252 X-Linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection 10
484 c HYP451 Hypertension, Essential 5 9
485 c HYP453 Hypertension, Essential 7 9
486 c HYP454 Hypertension, Essential 8 9
487 SNG013 Single-Organ Polyarteritis Nodosa 9
488 PST002 Posteroinferior Myocardial Infarction 9
489 TLN001 Telangiectatic Glomangioma 9
490 HST003 Histoplasmosis Pericarditis 7
491 BRS012 Breast Angiomatosis 7
492 PRM160 Premature Closure of the Arterial Duct 7
493 CNG107 Congenital Mitral Malformation 7
494 c CNG251 Congenital Pericardium Anomaly 7
495 TRC084 Tricuspid Valve Agenesis 7
496 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 6
497 CMP105 Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia 6
498 SPR002 Superior Vena Cava Angiosarcoma 6
499 PRC006 Pericardium Leiomyoma 6
500 VRR002 Verrucous Keratotic Hemangioma 6
501 DSC011 Discrete Fibromuscular Subaortic Stenosis 5
502 CNG353 Congenital Partial Agenesis of Pericardium 5
503 DPN002 Deep Angioma 5
504 MLP009 Malposition of a Coronary Ostium 5
505 CNG354 Congenital Complete Agenesis of Pericardium 5
506 HYP506 Hypoplasia of the Mitral Valve Annulus 5
507 SBN002 Subendocardial Infarction Acute Myocardial Infarction 5
508 c ARR052 Arrhythmogenic Right Ventricular Dysplasia 14 5
509 ACT050 Acute Inferoposterior Infarction 5
510 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 5
511 STR076 Straddling and/or Overriding Mitral Valve 5
512 BNG024 Benign Pericardial Teratoma 5
513 ATR095 Atrial Appendage Anomaly 5
514 PRS139 Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium 5
515 ATR096 Atrioventricular Valve Anomaly 4
516 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
517 CNG569 Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature 4
518 STR011 Strictly Posterior Acute Myocardial Infarction 4
519 PRK014 Prekallikrein Deficiency, Congenital 4
520 c CNG593 Congenital Mitral Valve Insufficiency and/or Stenosis 3
521 ANM078 Anomaly of the Coronary Ostia 3
522 STD001 Setd2-Related Microcephaly-Severe Intellectual Disability-Multiple Congenital Anomalies Syndrome 3
523 TRN077 Transposition of the Great Arteries and Conotruncal Cardiac Anomaly 3
524 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 54
525 NXS001 Naxos Disease 55
526 c DFN097 Deafness, Autosomal Recessive 1a 51
527 c DFN250 Deafness, Autosomal Recessive 2 48
528 c DFN133 Deafness, Autosomal Recessive 9 48
529 c DFN141 Deafness, Autosomal Recessive 12 47
530 c DFN136 Deafness, Autosomal Dominant 9 46
531 c DFN251 Deafness, Autosomal Dominant 11 46
532 c DFN196 Deafness, Autosomal Dominant 22 45
533 c DFN200 Deafness, Autosomal Dominant 17 44
534 c DFN197 Deafness, Autosomal Recessive 37 43
535 c DFN247 Deafness, Autosomal Recessive 18a 42
536 c DFN128 Deafness, Autosomal Dominant 36 42
537 c DFN093 Deafness, Autosomal Recessive 23 42
538 c DFN189 Deafness, Autosomal Dominant 25 42
539 c DFN103 Deafness, Autosomal Recessive 1b 41
540 c DFN139 Deafness, Autosomal Recessive 29 41
541 c DFN203 Deafness, Autosomal Recessive 30 41
542 c DFN112 Deafness, Autosomal Recessive 63 41
543 c DFN107 Deafness, Autosomal Dominant 10 40
544 c DFN143 Deafness, Autosomal Recessive 16 39
545 c DFN130 Deafness, Autosomal Recessive 21 39
546 c DFN352 Deafness, Autosomal Recessive 8 39
547 c DFN092 Deafness, Autosomal Recessive 49 39
548 c DFN267 Deafness, Autosomal Dominant 4a 39
549 c DFN252 Deafness, Autosomal Recessive 24 39
550 c DFN098 Deafness, Autosomal Dominant 3a 39
551 c DFN353 Deafness, Autosomal Dominant 12 39
552 c DFN170 Deafness, Autosomal Recessive 31 38
553 c DFN127 Deafness, Autosomal Recessive 7 38
554 c DFN124 Deafness, Autosomal Recessive 6 38
555 c DFN262 Deafness, Autosomal Recessive 15 38
556 c DFN351 Deafness, Autosomal Dominant 6 38
557 c DFN201 Deafness, Autosomal Recessive 3 38
558 c DFN102 Deafness, Autosomal Dominant 3b 38
559 c DFN114 Deafness, Autosomal Recessive 67 38
560 c DFN190 Deafness, Autosomal Dominant 2a 38
561 c DFN108 Deafness, Autosomal Recessive 77 38
562 c DFN111 Deafness, Autosomal Recessive 35 38
563 c DFN117 Deafness, Autosomal Dominant 15 37
564 c DFN181 Deafness, Autosomal Recessive 66 37
565 c DFN278 Deafness, Autosomal Dominant 65 37
566 c ATS006 Autosomal Recessive Nonsyndromic Deafness 37
567 c DFN259 Deafness, Autosomal Recessive 86 37
568 c DFN274 Deafness, Autosomal Dominant 56 36
569 c DFN244 Deafness, Autosomal Recessive 42 36
570 c DFN202 Deafness, Autosomal Dominant 48 36
571 c DFN364 Deafness, Autosomal Recessive 57 36
572 c DFN159 Deafness, Autosomal Dominant 5 36
573 c DFN269 Deafness, Autosomal Recessive 98 36
574 c DFN095 Deafness, Autosomal Recessive 25 35
575 c DFN163 Deafness, Autosomal Dominant 7 35
576 c DFN123 Deafness, Autosomal Recessive 79 35
577 c DFN354 Deafness, Autosomal Dominant 20 35
578 c DFN155 Deafness, Autosomal Dominant 41 34
579 c DFN360 Deafness, Autosomal Dominant 69 34
580 c DFN277 Deafness, Autosomal Recessive 102 33
581 c DFN266 Deafness, Autosomal Dominant 4b 33
582 c DFN120 Deafness, Autosomal Recessive 39 33
583 c DFN249 Deafness, Autosomal Recessive 93 33
584 c DFN132 Deafness, Autosomal Recessive 22 33
585 c DFN137 Deafness, Autosomal Dominant 13 33
586 c DFN280 Deafness, Autosomal Recessive 33
587 c DFN253 Deafness, Autosomal Recessive 84a 33
588 c DFN260 Deafness, Autosomal Recessive 89 33
589 c DFN375 Deafness, Autosomal Recessive 94 32
590 c DFN121 Deafness, Autosomal Recessive 28 32
591 c DFN330 Deafness, Autosomal Recessive 97 32
592 c DFN248 Deafness, Autosomal Recessive 18b 32
593 c DFN188 Deafness, Autosomal Recessive 61 32
594 c DFN178 Deafness, Autosomal Recessive 59 31
595 c DFN367 Deafness, Autosomal Recessive 110 31
596 c DFN284 Deafness, Autosomal Dominant 67 31
597 c DFN255 Deafness, Autosomal Dominant 64 31
598 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
599 c DFN254 Deafness, Autosomal Recessive 84b 31
600 c DFN094 Deafness, Autosomal Dominant 28 31
601 c DFN327 Deafness, Autosomal Dominant 70 30
602 c DFN265 Deafness, Autosomal Recessive 76 30
603 c DFN283 Deafness, Autosomal Recessive 104 30
604 c DFN135 Deafness, Autosomal Recessive 91 30
605 c DFN281 Deafness, Autosomal Recessive 103 30
606 c DFN148 Deafness, Autosomal Dominant 16 29
607 c DFN150 Deafness, Autosomal Dominant 21 29
608 c DFN192 Deafness, Autosomal Dominant 23 29
609 c DFN099 Deafness, Autosomal Dominant 2b 29
610 c DFN118 Deafness, Autosomal Dominant 44 29
611 c DFN336 Deafness, Autosomal Dominant 68 29
612 c DFN183 Deafness, Autosomal Recessive 83 29
613 c DFN374 Deafness, Autosomal Recessive 100 29
614 c DFN119 Deafness, Autosomal Dominant 50 29
615 c DFN273 Deafness, Autosomal Recessive 101 28
616 c DFN116 Deafness, Autosomal Recessive 74 27
617 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
618 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 27
619 c DFN246 Deafness, Autosomal Dominant 51 27
620 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 27
621 c DFN369 Deafness, Autosomal Recessive 111 26
622 c DFN365 Deafness, Autosomal Recessive 109 26
623 c DFN152 Deafness, Autosomal Dominant 27 26
624 c DFN257 Deafness, Autosomal Dominant 33 26
625 c DFN030 Deafness, Autosomal Recessive 55 25
626 c OTF001 Otof-Related Deafness 25
627 c DFN271 Deafness, Autosomal Dominant 58 25
628 c DFN173 Deafness, Autosomal Recessive 40 25
629 c DFN162 Deafness, Autosomal Dominant 59 24
630 c DFN169 Deafness, Autosomal Recessive 27 24
631 c ATS528 Autosomal Recessive Nonsyndromic Deafness 70 24
632 c DFN258 Deafness, Autosomal Recessive 48 24
633 c DFN240 Deafness, Autosomal Recessive 96 24
634 c DFN138 Deafness, Autosomal Recessive 53 24
635 c DFN378 Deafness, Autosomal Recessive 99 24
636 c DFN179 Deafness, Autosomal Recessive 62 24
637 c DFN149 Deafness, Autosomal Dominant 18 24
638 c DFN174 Deafness, Autosomal Recessive 44 23
639 c DFN184 Deafness, Autosomal Recessive 85 23
640 c DFN373 Deafness, Autosomal Recessive 113 23
641 c DFN166 Deafness, Autosomal Recessive 17 23
642 c DFN379 Deafness, Autosomal Dominant 37 22
643 c DFN134 Deafness, Autosomal Dominant 40 22
644 c DFN160 Deafness, Autosomal Dominant 52 22
645 c DFN329 Deafness, Autosomal Dominant 66 22
646 c DFN168 Deafness, Autosomal Recessive 26 21
647 c DFN151 Deafness, Autosomal Dominant 24 20
648 c DFN263 Deafness, Autosomal Recessive 68 20
649 c DFN395 Deafness, Autosomal Dominant 82 20
650 c DFN385 Deafness, Autosomal Dominant 78 20
651 c DFN335 Deafness, Autosomal Dominant 71 20
652 c DFN029 Deafness, Autosomal Recessive 51 20
653 c DFN390 Deafness, Autosomal Dominant 80 20
654 c DFN333 Deafness, Autosomal Dominant 73 20
655 c DFN382 Deafness, Autosomal Dominant 76 20
656 c DFN371 Deafness, Autosomal Recessive 112 19
657 c DFN171 Deafness, Autosomal Recessive 33 19
658 c DFN165 Deafness, Autosomal Recessive 14 19
659 c DFN361 Deafness, Autosomal Recessive 106 19
660 c DFN377 Deafness, Autosomal Recessive 115 19
661 c DFN328 Deafness, Autosomal Dominant 72 19
662 c DFN164 Deafness, Autosomal Recessive 13 18
663 c DFN368 Deafness, Autosomal Dominant 74 18
664 c DFN167 Deafness, Autosomal Recessive 20 18
665 c DFN180 Deafness, Autosomal Recessive 65 18
666 c DFN158 Deafness, Autosomal Dominant 49 18
667 c DFN325 Deafness, Autosomal Recessive 108 18
668 c DFN337 Deafness, Autosomal Recessive 107 18
669 c DFN243 Deafness, Autosomal Recessive 88 17
670 c DFN154 Deafness, Autosomal Dominant 31 17
671 c DFN394 Deafness, Autosomal Recessive 119 17
672 c DFN272 Deafness, Autosomal Dominant 54 17
673 c DFN161 Deafness, Autosomal Dominant 53 17
674 c DFN381 Deafness, Autosomal Dominant 75 17
675 c FML056 Familial Deafness 16
676 c DFN387 Deafness, Autosomal Recessive 116 16
677 c DFN177 Deafness, Autosomal Recessive 5 16
678 c DFN376 Deafness, Autosomal Recessive 114 16
679 c DFN397 Deafness, Autosomal Dominant 84 16
680 c DFN388 Deafness, Autosomal Recessive 117 16
681 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
682 c DFN156 Deafness, Autosomal Dominant 43 16
683 c DFN357 Deafness, Autosomal Recessive 47 16
684 c ATS490 Autosomal Dominant Nonsyndromic Deafness 77 16
685 c DFN153 Deafness, Autosomal Dominant 30 16
686 c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 16
687 c DFN383 Deafness, Autosomal Dominant 77 16
688 c DFN261 Deafness, Autosomal Recessive 46 16
689 c DFN386 Deafness, Autosomal Dominant 79 16
690 c DFN396 Deafness, Autosomal Dominant 83 15
691 c DFN157 Deafness, Autosomal Dominant 47 15
692 c DFN392 Deafness, Autosomal Dominant 81 15
693 c DFN172 Deafness, Autosomal Recessive 38 15
694 c DFN182 Deafness, Autosomal Recessive 71 14
695 c DFN175 Deafness, Autosomal Recessive 45 14
696 c ATS487 Autosomal Dominant Nonsyndromic Deafness 74 13
697 P RRD005 Rare Deafness 13
698 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
699 c ATS486 Autosomal Recessive Nonsyndromic Deafness 116 6
700 c ATS485 Autosomal Dominant Nonsyndromic Deafness 79 6
701 c ATS488 Autosomal Dominant Nonsyndromic Deafness 75 6
702 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 5
703 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 5
704 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 5
705 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 5
706 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 5
707 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
708 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 5
709 P EMR001 Emery-Dreifuss Muscular Dystrophy 61
710 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 55
711 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 47
712 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 47
713 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 44
714 ACT060 Acute Vascular Insufficiency of Intestine 32
715 P HYP724 Hyperlipoproteinemia, Type Iii 72
716 c HYP768 Hyperlipoproteinemia, Type I 69
717 c HYP740 Hyperlipoproteinemia, Type V 57
718 c HYP739 Hyperlipoproteinemia, Type Iv 53
719 c HYP819 Hyperlipoproteinemia, Type Id 26
720 ELS001 Eales Disease 38
721 PLM068 Pulmonary Vein Stenosis 25
722 CMB014 Combined Oxidative Phosphorylation Deficiency 3 38
723 IMM243 Immunodeficiency 80 with or Without Congenital Cardiomyopathy 23
724 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 18
725 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 41
726 ASP030 Aspirin Resistance 26
727 EPD107 Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss 24
728 FML325 Familial Cervical Artery Dissection 21
729 c CRD254 Cardiomyopathy, Familial Restrictive, 6 21
730 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 5
731 NWB001 Newborn Respiratory Distress Syndrome 58
732 MDN008 Median Arcuate Ligament Syndrome 36
733 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 33
734 MGR035 Migraine with Brainstem Aura 25
735 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 25
736 ART027 Aorta-Pulmonary Artery Fistula 17
737 MLG026 Male Genital Organ Vascular Disease 5
738 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 58
739 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 41
740 NST002 Nestor-Guillermo Progeria Syndrome 37
741 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 34
742 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 33
743 DLF001 Dieulafoy Lesion 29
744 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 4
745 P CTR002 Cataract 60
746 c CTR103 Cataract 4, Multiple Types 47
747 c CTR098 Cataract 1, Multiple Types 47
748 c CTR182 Cataract 23, Multiple Types 44
749 c CTR096 Cataract 6, Multiple Types 44
750 c CTR130 Cataract 9, Multiple Types 43
751 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
752 CMB054 Combined Oxidative Phosphorylation Deficiency 23 41
753 c CTR118 Cataract 14, Multiple Types 40
754 c CTR125 Cataract 7 39
755 c CTR132 Cataract 3, Multiple Types 39
756 c CTR115 Cataract 16, Multiple Types 39
757 c CTR170 Cataract 30, Multiple Types 39
758 c CTR174 Cataract 40 38
759 c CTR113 Cataract 11, Multiple Types 38
760 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 38
761 c CTR145 Cataract 44 37
762 c CTR129 Cataract 31, Multiple Types 36
763 c CTR181 Cataract 18 35
764 c CTR122 Cataract 5, Multiple Types 34
765 c CTR183 Cataract 38 34
766 PLM151 Pulmonary Arteriovenous Fistulas 34
767 c CTR095 Cataract 8, Multiple Types 34
768 c CTR102 Cataract 2, Multiple Types 33
769 c CTR131 Cataract 17, Multiple Types 32
770 c CTR187 Cataract 48 32
771 c CTR111 Cataract 36 32
772 c CTR185 Cataract 30 32
773 c CTR124 Cataract 10, Multiple Types 31
774 c CTR175 Cataract 24 30
775 c CTR119 Cataract 32, Multiple Types 30
776 c CTR141 Cataract 21, Multiple Types 29
777 c CTR180 Cataract 22, Multiple Types 27
778 c CTR116 Cataract 15, Multiple Types 26
779 c CTR105 Cataract 12, Multiple Types 26
780 c CTR166 Cataract 33, Multiple Types 26
781 c CTR121 Cataract 25 26
782 c CTR097 Cataract 34, Multiple Types 26
783 CRD247 Cardiofacioneurodevelopmental Syndrome 25
784 c CTR169 Cataract 29 24
785 c CTR165 Cataract 19, Multiple Types 24
786 c CTR162 Cataract 47 23
787 c CTR136 Cataract 41 23
788 c CTR157 Cataract 28 23
789 c CTR158 Cataract 37 23
790 c CTR184 Cataract 39, Multiple Types 22
791 c CTR106 Cataract 20, Multiple Types 22
792 c PTN012 Patent Ductus Arteriosus 3 22
793 c CTR110 Cataract 26, Multiple Types 22
794 c CTR160 Cataract 45 21
795 c CTR144 Cataract 43 21
796 c CTR178 Cataract 27 21
797 c CTR128 Cataract 33 20
798 c CTR159 Cataract 35 20
799 c CTR139 Cataract 42 20
800 c CTR190 Cataract 49 18
801 c CTR008 Cataract Congenital Autosomal Dominant 5
802 PLM054 Pulmonary Artery Coming from the Aorta 4
803 c FML021 Familial Hypercholesterolemia 69
804 c MCL062 Mucolipidosis Ii Alpha/beta 69
805 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
806 c MCL013 Mucolipidosis Iv 66
807 P MSC005 Muscular Dystrophy 66
808 MXD005 Mixed Connective Tissue Disease 57
809 c MCL046 Mucolipidosis Iii Alpha/beta 57
810 RLP001 Relapsing Polychondritis 54
811 P MCL001 Mucolipidosis 50
812 c MCL016 Mucolipidosis Iii Gamma 49
813 P TTR031 Tetraamelia Syndrome 48
814 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 47
815 OBS037 Obesity-Hypoventilation Syndrome 47
816 HMN035 Hemangioma-Thrombocytopenia Syndrome 40
817 c BRN140 Brain Small Vessel Disease 2 39
818 c MSC050 Muscular Dystrophy, Congenital, 1b 37
819 INT009 Intracranial Abscess 35
820 MCH011 Meacham Syndrome 35
821 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 32
822 c JRV002 Jervell and Lange-Nielsen Syndrome 2 32
823 PRK005 Prekallikrein Deficiency 32
824 c TTR028 Tetraamelia Syndrome 1 26
825 c TTR029 Tetraamelia Syndrome 2 25
826 CYL001 Cayler Cardiofacial Syndrome 25
827 c PRG106 Progressive Muscular Dystrophy 24
828 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23
829 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23
830 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 19
831 c ABD015 Abdominal Obesity-Metabolic Syndrome 4 19
832 VNS012 Venous Thoracic Outlet Syndrome 18
833 LNG102 Long-Thumb Brachydactyly Syndrome 17
834 P RRC004 Rare Cardiomyopathy 16
835 PLM053 Pulmonary Artery Agenesis 13
836 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 8
837 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 7
838 RRR005 Rare Retinal Vasculopathy 7
839 CNG560 Congenital Pulmonary Artery Branch Stenosis 6
840 VSC057 Vasculitis, Lymphocytic, Cutaneous Small Vessel 5
841 ISL157 Isolated Mesenteric Vein Thrombosis 5
842 RRP005 Rare Pediatric Vasculitis 3
843 GNT088 Genetic Skin Vascular Disorder 3
844 NNF004 Non-Familial Hypertrophic Cardiomyopathy 3
845 LPT015 Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanoder 3
846 PLM055 Pulmonary Artery Familial Dilatation 2
847 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 2
848 c DLT002 Dilated Cardiomyopathy 79
849 P NNN008 Noonan Syndrome 1 76
850 FBR012 Fabry Disease 71
851 P TRN020 Turner Syndrome 70
852 P TMP003 Temporal Arteritis 69
853 ART016 Aortic Aneurysm 68
854 CRB039 Cerebrovascular Disease 68
855 LPP008 Lipoprotein Quantitative Trait Locus 67
856 CNG034 Congestive Heart Failure 67
857 c FML001 Familial Atrial Fibrillation 67
858 c LNG044 Long Qt Syndrome 1 67
859 P CRB048 Cerebral Cavernous Malformations 66
860 CNT061 Conotruncal Heart Malformations 65
861 P CRD119 Cardiac Arrest 65
862 ATH013 Atherosclerosis Susceptibility 64
863 KWS002 Kawasaki Disease 63
864 P SHR029 Short Syndrome 63
865 ART001 Arterial Tortuosity Syndrome 63
866 c ART138 Aortic Aneurysm, Familial Abdominal, 1 63
867 AND019 Andersen Cardiodysrhythmic Periodic Paralysis 62
868 VTR013 Vitreoretinopathy, Neovascular Inflammatory 62
869 VSC063 Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations 61
870 ISC004 Ischemia 60
871 c HRD202 Hereditary Lymphedema I 60
872 P HMN010 Hemangioma 60
873 P MYM013 Moyamoya Disease 1 59
874 IMM140 Immunodeficiency 47 59
875 c HYP843 Hypoalphalipoproteinemia, Primary, 2 59
876 P VNT002 Ventricular Septal Defect 58
877 LYM022 Lymphangioma 58
878 P END033 Endocarditis 57
879 EBS001 Ebstein Anomaly 57
880 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 57
881 PRT058 Pure Autonomic Failure 56
882 P ANT006 Antiphospholipid Syndrome 55
883 c CRD093 Cardiomyopathy, Dilated, 1a 55
884 P SCK002 Sick Sinus Syndrome 55
885 RHM028 Rheumatic Heart Disease 55
886 NVS001 Neovascular Glaucoma 54
887 c CRD099 Cardiomyopathy, Dilated, 1e 54
888 P CNT004 Centronuclear Myopathy 54
889 TRC062 Tricuspid Atresia 54
890 P ART021 Arteriosclerosis 54
891 P ART018 Aortic Valve Insufficiency 54
892 ART140 Arteries, Anomalies of 53
893 c MYP123 Myopathy, Centronuclear, 1 53
894 c CRD080 Cardiomyopathy, Dilated, 1g 52
895 P ECL001 Eclampsia 52
896 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
897 RPD005 Rapidly Involuting Congenital Hemangioma 52
898 c NNN010 Noonan Syndrome 3 52
899 MLT145 Multiple Enchondromatosis, Maffucci Type 51
900 P HMN036 Hemangiopericytoma, Malignant 51
901 PLM041 Pulmonary Valve Stenosis 51
902 c CRD187 Cardiomyopathy, Dilated, 3b 51
903 P CMP008 Compartment Syndrome 51
904 c MYP131 Myopathy, Centronuclear, 2 50
905 c PSD047 Pseudo-Turner Syndrome 50
906 P PST095 Post-Thrombotic Syndrome 50
907 PRP080 Peripheral Artery Disease 49
908 ACT017 Acute Chest Syndrome 49
909 CRN030 Coronary Stenosis 49
910 RTN003 Retinal Ischemia 48
911 c FML191 Familial Long Qt Syndrome 48
912 THR013 Thoracic Outlet Syndrome 48
913 PRL019 Prolidase Deficiency 47
914 DBT008 Diabetic Angiopathy 47
915 VSC006 Vascular Cancer 47
916 CRB004 Cerebral Artery Occlusion 47
917 c CRD233 Cardiomyopathy, Dilated, 1b 47
918 HYP006 Hypertensive Heart Disease 47
919 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 46
920 P CRC039 Coarctation of Aorta 46
921 c CRD097 Cardiomyopathy, Dilated, 1d 46
922 c LNG051 Long Qt Syndrome 6 45
923 c CRD105 Cardiomyopathy, Dilated, 1o 45
924 CRN019 Coronary Artery Vasospasm 45
925 CYS002 Cystic Lymphangioma 45
926 P VND001 Vein Disease 44
927 c LNG053 Long Qt Syndrome 9 44
928 BCK003 Background Diabetic Retinopathy 44
929 c SHR030 Short Qt Syndrome 44
930 c CRB094 Cerebral Cavernous Malformations 3 44
931 c NNN009 Noonan Syndrome 2 44
932 HYP034 Hypertensive Encephalopathy 44
933 WLD008 Wild-Type Amyloidosis 43
934 CRN006 Coronary Aneurysm 43
935 P RNL015 Renal Hypertension 43
936 SBV001 Subvalvular Aortic Stenosis 43
937 c CRD091 Cardiomyopathy, Dilated, 1dd 43
938 SPT005 Spotted Fever 42
939 P INT260 Intracranial Berry Aneurysm 42
940 c CRD155 Cardiomyopathy, Dilated, 1kk 42
941 c NNN012 Noonan Syndrome 5 42
942 c CRD069 Cardiomyopathy, Dilated, 1h 41
943 c PST106 Post-Cardiac Arrest Syndrome 41
944 P HYP121 Hypoalphalipoproteinemia 41
945 c CHR096 Chronic Pulmonary Heart Disease 41
946 c PLM022 Pulmonary Valve Insufficiency 41
947 c BRG003 Brugada Syndrome 3 40
948 c NNN021 Noonan Syndrome 8 40
949 P PLM040 Pulmonary Valve Disease 40
950 P PRM327 Primary Lymphedema 40
951 c FML294 Familial Short Qt Syndrome 40
952 c NNN011 Noonan Syndrome 4 40
953 NNB002 Nonobstructive Coronary Artery Disease 40
954 c CRD090 Cardiomyopathy, Dilated, 1l 40
955 ERY017 Erythema Elevatum Diutinum 40
956 ART006 Arthus Reaction 39
957 c CRD063 Cardiomyopathy, Dilated, 2a 39
958 P EPT020 Epithelioid Hemangioendothelioma 39
959 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
960 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 39
961 c MCL059 Macular Dystrophy, Patterned, 1 38
962 P DYS215 Dyskinesia with Orofacial Involvement, Autosomal Dominant 38
963 c HRD206 Hereditary Lymphedema Ii 38
964 MDD003 Middle Cerebral Artery Infarction 38
965 c NNN020 Noonan Syndrome 7 38
966 c CRD114 Cardiomyopathy, Dilated, 1m 38
967 ART030 Aortic Arch Interruption 38
968 c CRB051 Cerebral Cavernous Malformation, Familial 38
969 SHW001 Shwartzman Phenomenon 38
970 c HRD007 Hereditary Lymphedema 38
971 BRS004 Breast Angiosarcoma 37
972 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 37
973 APL032 Apolipoprotein a-Iv Associated Amyloidosis 37
974 TRC021 Tricuspid Valve Stenosis 37
975 c NNN025 Noonan Syndrome 10 36
976 c CRD219 Cardiomyopathy, Infantile Hypertrophic 36
977 c CRD101 Cardiomyopathy, Dilated, 1x 36
978 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 36
979 c CRD064 Cardiomyopathy, Dilated, 1ff 36
980 CVR002 Cavernous Sinus Thrombosis 36
981 c NNN013 Noonan Syndrome 6 36
982 P CRN074 Coronary Artery Aneurysm 36
983 PLM052 Pulmonary Arteriovenous Malformation 36
984 BSL004 Basilar Artery Occlusion 36
985 HMN016 Hemangioendothelioma 36
986 HMN004 Hemangioma of Liver 35
987 INT020 Intravenous Leiomyomatosis 35
988 c CRD082 Cardiomyopathy, Dilated, 1gg 35
989 c ANR050 Aneurysm, Intracranial Berry, 12 35
990 CRT008 Carotid Artery Dissection 35
991 SGT001 Sagittal Sinus Thrombosis 35
992 NNT039 Neonatal Marfan Syndrome 35
993 TKN001 Takenouchi-Kosaki Syndrome 35
994 FBR099 Fibromuscular Dysplasia, Arterial 35
995 MCR183 Microcephaly-Capillary Malformation Syndrome 35
996 c CRD104 Cardiomyopathy, Dilated, 1p 34
997 CHL165 Childhood Angiosarcoma 34
998 c MYP098 Myopathy, Centronuclear, 4 34
999 CYS041 Cystic Angiomatosis of Bone, Diffuse 34
1000 c RNG029 Ring Chromosome 14 Syndrome 34
1001 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 34
1002 c MYP148 Myopathy, Centronuclear, 5 34
1003 c NNN024 Noonan Syndrome 9 33
1004 HPT081 Hepatic Infarction 33
1005 c CNG439 Congenital Lymphedema 33
1006 c MCL070 Macular Dystrophy, Patterned, 3 33
1007 c NNN034 Noonan Syndrome 12 33
1008 c CRD159 Cardiomyopathy, Dilated, 1hh 33
1009 c VNT028 Ventricular Septal Defect 1 33
1010 HYP193 Hypocomplementemic Urticarial Vasculitis 33
1011 c RNG008 Ring Chromosome 13 33
1012 c CRD102 Cardiomyopathy, Dilated, 1j 33
1013 c CRD107 Cardiomyopathy, Dilated, 1r 33
1014 PLV004 Pelvic Varices 33
1015 c RNG023 Ring Chromosome 7 33
1016 c SCK017 Sick Sinus Syndrome 1 32
1017 c RNL113 Renal Failure, Progressive, with Hypertension 32
1018 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 32
1019 c RNG018 Ring Chromosome 22 32
1020 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1021 c CRD096 Cardiomyopathy, Dilated, 1ee 32
1022 MNN006 Meninges Hemangiopericytoma 32
1023 CRB014 Cerebral Angioma 32
1024 c NNN036 Noonan Syndrome 13 31
1025 c MCL071 Macular Dystrophy, Patterned, 2 31
1026 c RNG017 Ring Chromosome 21 31
1027 VRT003 Vertebrobasilar Insufficiency 31
1028 P ANG013 Angioma Serpiginosum 31
1029 c PHL010 Peho-Like Syndrome 30
1030 c INT059 Internal Hemorrhoid 30
1031 c RNG004 Ring Chromosome 1 30
1032 SKN018 Skin Hemangioma 30
1033 HSB001 His Bundle Tachycardia 30
1034 SPL005 Splenic Artery Aneurysm 30
1035 SBC002 Subclavian Artery Aneurysm 30
1036 c SCK014 Sick Sinus Syndrome 2 30
1037 c NNN029 Noonan Syndrome 11 30
1038 c SHR032 Short Qt Syndrome 2 30
1039 c SHR033 Short Qt Syndrome 3 29
1040 PRT048 Partial Atrioventricular Canal 29
1041 RGH006 Right Aortic Arch 29
1042 INT084 Intrinsic Cardiomyopathy 29
1043 INT013 Intramuscular Hemangioma 29
1044 c RNG022 Ring Chromosome 6 29
1045 c LFT017 Left Ventricular Noncompaction 8 29
1046 c RNG007 Ring Chromosome 12 29
1047 ANT013 Anterior Spinal Artery Syndrome 29
1048 c ATM102 Autoimmune Cardiomyopathy 29
1049 ANG019 Angiomyoma 29
1050 c ATR034 Atrial Septal Defect 6 29
1051 HRT010 Heart Sarcoma 29
1052 c RNG020 Ring Chromosome 4 28
1053 c ATM013 Autoimmune Disease of Cardiovascular System 28
1054 c RNG024 Ring Chromosome 8 28
1055 c RNG005 Ring Chromosome 10 28
1056 c ATR061 Atrial Fibrillation, Familial, 10 28
1057 c LNG052 Long Qt Syndrome 8 28
1058 INT053 Intracranial Vasospasm 27
1059 c SHR031 Short Qt Syndrome 1 27
1060 c FML272 Familial Sick Sinus Syndrome 27
1061 c BRG010 Brugada Syndrome 8 27
1062 KPS005 Kaposiform Lymphangiomatosis 27
1063 P RNG032 Ring Chromosome 27
1064 P ACT080 Acute Pulmonary Heart Disease 27
1065 c PSD094 Pseudohypoaldosteronism, Type Iib 26
1066 NTM001 Nutmeg Liver 26
1067 GST005 Gastric Hemangioma 26
1068 FBR100 Fibromuscular Dysplasia, Multifocal 26
1069 c CRD162 Cardiomyopathy, Dilated, 1ii 26
1070 c RNG013 Ring Chromosome 18 26
1071 RTN004 Retinal Microaneurysm 26
1072 c ANT087 Anterior Segment Dysgenesis 6 26
1073 VRT002 Vertebral Artery Insufficiency 26
1074 c VNT024 Ventricular Septal Defect 3 26
1075 MSN003 Mesenteric Vascular Occlusion 26
1076 NNN007 Non-Involuting Congenital Hemangioma 26
1077 EXT035 Extrinsic Cardiomyopathy 26
1078 HMN008 Hemangioma of Subcutaneous Tissue 26
1079 c JVN019 Juvenile Temporal Arteritis 26
1080 c CRD111 Cardiomyopathy, Dilated, 1i 26
1081 c ATR037 Atrial Fibrillation, Familial, 7 26
1082 c CRD108 Cardiomyopathy, Dilated, 1bb 26
1083 LTR002 Lateral Sinus Thrombosis 26
1084 PRC010 Pericardial Mesothelioma 26
1085 BLT003 Blue Toe Syndrome 26
1086 c CRD115 Cardiomyopathy, Dilated, 1cc 25
1087 c CRD149 Cardiomyopathy, Dilated, 1jj 25
1088 c ATR038 Atrial Fibrillation, Familial, 3 25
1089 c ATR074 Atrial Standstill 2 25
1090 c CRD060 Cardiomyopathy, Dilated, 1z 25
1091 c LNG114 Long Qt Syndrome 16 25
1092 c ATR035 Atrial Fibrillation, Familial, 6 25
1093 c CNG455 Congenital Aortopulmonary Window 25
1094 c RNG010 Ring Chromosome 15 25
1095 THR007 Thrombophlebitis Migrans 25
1096 c RNG016 Ring Chromosome 20 25
1097 GLM005 Glomangiosarcoma 25
1098 c CRD113 Cardiomyopathy, Dilated, 1v 25
1099 c FML025 Familial Glomangioma 25
1100 c CRD092 Cardiomyopathy, Dilated, 1w 25
1101 c ATR059 Atrial Fibrillation, Familial, 11 25
1102 c MYM003 Moyamoya Disease 5 24
1103 c CRD112 Cardiomyopathy, Dilated, 1u 24
1104 c NNN038 Noonan Syndrome 14 24
1105 c PST018 Posterior Cerebral Artery Infarction 24
1106 PRC014 Pericardium Cancer 24
1107 c ATR085 Atrial Fibrillation, Familial, 18 24
1108 c RNG006 Ring Chromosome 11 24
1109 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 24
1110 c DYS217 Dyskinesia with Orofacial Involvement, Autosomal Recessive 24
1111 c HRD204 Hereditary Lymphedema Ia 24
1112 c CRD153 Cardiomyopathy, Dilated, 2b 24
1113 SBN003 Subungual Glomus Tumor 24
1114 GLM002 Glomangiomatosis 24
1115 c ATR092 Atrial Fibrillation, Familial, 15 24
1116 GLM001 Glomeruloid Hemangioma 24
1117 DBL004 Double Discordia 24
1118 PRC055 Pericytoma with T(7;12) 23
1119 c RNG015 Ring Chromosome 2 23
1120 c CRB226 Cerebral Cavernous Malformations 4 23
1121 c ATR068 Atrial Fibrillation, Familial, 14 23
1122 CRS011 Criss-Cross Heart 23
1123 c RNG019 Ring Chromosome 3 23
1124 SDD004 Sudden Arrhythmia Death Syndrome 23
1125 c HRD100 Hereditary Lymphedema Ic 23
1126 c CRD173 Cardiomyopathy, Dilated, 1nn 23
1127 MTC215 Mitochondrial Complex Iv Deficiency, Nuclear Type 4 23
1128 c ATR070 Atrial Fibrillation, Familial, 9 22
1129 SYN004 Synovial Angioma 22
1130 c SCK022 Sick Sinus Syndrome 3 22
1131 c RNG025 Ring Chromosome 9 22
1132 HBN001 Hobnail Hemangioma 22
1133 c RNG021 Ring Chromosome 5 22
1134 c MLG145 Malignant Epithelioid Hemangioendothelioma 22
1135 P ART034 Aortopulmonary Window 22
1136 EPC001 Epicardium Cancer 22
1137 CNT023 Central Nervous System Hemangioma 22
1138 CRT060 Cor Triatriatum Sinister 22
1139 c DLT017 Dilated Cardiomyopathy 1t 22
1140 c PTN013 Patent Ductus Arteriosus 2 22
1141 c CRD250 Cardiomyopathy, Dilated, 2d 22
1142 ACT174 Acute Peripheral Arterial Occlusion 22
1143 c CRD244 Cardiomyopathy, Dilated, 2c 22
1144 c CRD261 Cardiomyopathy, Dilated, 2g 22
1145 c RNG012 Ring Chromosome 17 22
1146 c ATR026 Atrial Fibrillation, Familial, 1 22
1147 CRT061 Cor Triatriatum Dexter 21
1148 ANG012 Angiodysplasia of Intestine 21
1149 PLM008 Pulmonary Subvalvular Stenosis 21
1150 MTC233 Mitochondrial Complex Iv Deficiency, Nuclear Type 22 21
1151 c ANT041 Antiphospholipid Syndrome, Familial 21
1152 CNG519 Congenital Gerbode Defect 21
1153 RTH002 Rutherfurd Syndrome 21
1154 HMN011 Hemangioma of Intra-Abdominal Structure 21
1155 BRN027 Brain Angioma 21
1156 PDT041 Pediatric Arterial Ischemic Stroke 21
1157 c ATR039 Atrial Fibrillation, Familial, 4 21
1158 c CRD255 Cardiomyopathy, Dilated, 2e 21
1159 HMN012 Hemangioma of Lung 21
1160 c ATR072 Atrial Fibrillation, Familial, 13 21
1161 HRT002 Heart Fibrosarcoma 20
1162 BSL005 Basal Ganglia Cerebrovascular Disease 20
1163 c HYP886 Hypoalphalipoproteinemia, Primary, 2, Intermediate 20
1164 ECT085 Ectopia Cordis 20
1165 c CRD260 Cardiomyopathy, Dilated, 2f 20
1166 CNG108 Congenital Mitral Stenosis 20
1167 c RNG011 Ring Chromosome 16 19
1168 DRG017 Drug-Induced Vasculitis 19
1169 CRN311 Coronary Ostial Stenosis or Atresia 19
1170 c RNG014 Ring Chromosome 19 19
1171 ART003 Aorta Angiosarcoma 19
1172 c ATR069 Atrial Fibrillation, Familial, 12 19
1173 c MLG144 Malignant Hemangioma 19
1174 CRB202 Cerebrovascular Benign Neoplasm 19
1175 CNG609 Congenital Left Ventricular Aneurysm 19
1176 P PTT054 Patterned Macular Dystrophy 19
1177 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 18
1178 c CNG578 Congenital Hemangioma 18
1179 c SCK050 Sick Sinus Syndrome 4 18
1180 CNG347 Congenital Tricuspid Stenosis 18
1181 c RNG031 Ring Chromosome Y Syndrome 18
1182 CNG586 Congenital Tricuspid Valve Dysplasia 18
1183 WHT005 White Forelock with Malformations 18
1184 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
1185 RTF001 Retiform Hemangioendothelioma 17
1186 ATM103 Autoimmune Atherosclerosis 17
1187 P CNG600 Congenital Arteriovenous Fistula 17
1188 PST098 Postinfectious Vasculitis 16
1189 c ANG028 Angioma Serpiginosum, Autosomal Dominant 16
1190 SHN001 Shone Complex 16
1191 DBL010 Double-Orifice Mitral Valve 16
1192 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 16
1193 c SCN082 Secondary Vasculitis 16
1194 CLF033 Cleft Mitral Valve 15
1195 PLM027 Pulmonary Embolism and Infarction 15
1196 c ART152 Aortic Aneurysm, Familial Abdominal, 3 15
1197 ANM076 Anomalous Aortic Origin of the Right Coronary Artery 15
1198 c CRD070 Cardiomyopathy, Dilated, 1k 14
1199 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 14
1200 c ATR027 Atrial Fibrillation, Familial, 5 14
1201 CMP098 Complex Vascular Malformation with Associated Anomalies 14
1202 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 14
1203 c ANR011 Aneurysm, Intracranial Berry, 2 14
1204 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 14
1205 ANM075 Anomalous Aortic Origin of Coronary Artery 14
1206 MYC003 Myocardium Cancer 14
1207 c PRM222 Primary Polyarteritis Nodosa 14
1208 c CRD071 Cardiomyopathy, Dilated, 1q 14
1209 ART129 Arterial Dissection with Lentiginosis 14
1210 c ART151 Aortic Aneurysm, Familial Abdominal, 2 13
1211 UNC016 Unclassified Vasculitis 13
1212 c ATR025 Atrial Fibrillation, Familial, 2 13
1213 c ANR022 Aneurysm, Intracranial Berry, 4 13
1214 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
1215 c HRD203 Hereditary Lymphedema Id 13
1216 c ANR024 Aneurysm, Intracranial Berry, 9 13
1217 RTN189 Retinal Capillary Malformation 13
1218 c ART148 Arteriosclerosis, Severe Juvenile 13
1219 P AGR013 Age-Related Hearing Impairment 1 12
1220 c CNG343 Congenital Coronary Artery Aneurysm 12
1221 c ANR023 Aneurysm, Intracranial Berry, 7 12
1222 c ANR030 Aneurysm, Intracranial Berry, 8 12
1223 c MYM005 Moyamoya Disease 3 12
1224 LWR014 Lower Limb Hypertrophy 12
1225 c ANR026 Aneurysm, Intracranial Berry, 5 12
1226 P FML305 Familial Abdominal Aortic Aneurysm 12
1227 c ATR028 Atrial Fibrillation, Familial, 8 11
1228 c ANR039 Aneurysm, Intracranial Berry, 11 11
1229 CLC050 Calciphylaxis Cutis 11
1230 TRN010 Transient Retinal Arterial Occlusion 11
1231 RRV006 Rare Venous Malformation 11
1232 c ATS065 Autosomal Dominant Coarctation of Aorta 10
1233 c AGR014 Age-Related Hearing Impairment 2 10
1234 ACC010 Accessory Tricuspid Valve Tissue 10
1235 MXL013 Maxillary Arteriovenous Malformation 10
1236 ART098 Aorto-Right Ventricular Tunnel 10
1237 P BNG003 Benign Hypertensive Renal Disease 10
1238 SCR010 Scrotal Angioma 9
1239 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 9
1240 VSC036 Visceral Calciphylaxis 9
1241 ART161 Aortic Malformation 9
1242 HRT009 Heart Lipoma 8
1243 CRN073 Coronary Arteries Congenital Malformation 8
1244 SBR010 Subaortic Course of Innominate Vein 8
1245 SBG002 Subglottic Angioma 7
1246 CNG614 Congenital Primary Lymphedema of Gordon 7
1247 NNN031 Non-Inflammatory Vasculopathy 7
1248 ECT057 Ectasia of the Right Atrial Appendage 7
1249 MLG058 Malignant Cardiac Germ Cell Tumor 7
1250 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 7
1251 END017 Endocardium Cancer 7
1252 RGH007 Right Inferior Vena Cava Connecting to Left-Sided Atrium 6
1253 FRN038 Frontonasal Arteriovenous Malformation 6
1254 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
1255 EPC003 Epicardium Lipoma 6
1256 DBL020 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect 6
1257 c HRD205 Hereditary Lymphedema Ib 6
1258 P RRC010 Rare Capillary Malformation 6
1259 ENC035 Encircling Double Aortic Arch 6
1260 HRT001 Heart Malignant Hemangiopericytoma 6
1261 PRT253 Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia 6
1262 PRT252 Partial Atrioventricular Septal Defect with Ventricular Hypoplasia 6
1263 CNG592 Congenital Aortic Valve Atresia 5
1264 PRT109 Partially Involuting Congenital Hemangioma 5
1265 ANM023 Anomaly of the Tricuspid Subvalvular Apparatus 5
1266 MDS001 Mediastinum Angiosarcoma 5
1267 CHL034 Childhood Malignant Hemangiopericytoma 5
1268 CNG360 Congenital Unguarded Mitral Orifice 5
1269 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1270 ANM025 Anomaly of the Mitral Subvalvular Apparatus 5
1271 CNG601 Congenital Tricuspid Malformation 5
1272 MTR068 Mitral Valve Agenesis 5
1273 PRD044 Predominantly Medium-Vessel Vasculitis 4
1274 CNG361 Congenital Supravalvular Mitral Ring 4
1275 CNG341 Congenital Anomaly of the Coronary Sinus 4
1276 c LTN028 Late-Onset Primary Lymphedema Without Systemic or Visceral Involvement 4
1277 ASC011 Ascending Aorta Anomaly 4
1278 RRS007 Rare Syndrome with Cardiac Malformations 4
1279 c CNG565 Congenital Systemic Veins Anomaly 3
1280 c RRT007 Rare Thrombotic Disorder Due to a Platelet Anomaly 3
1281 c RRT006 Rare Thrombotic Disorder Due to a Constitutional Platelet Anomaly 3
1282 HRT042 Heart Position Anomaly 3
1283 c RRT005 Rare Thrombotic Disorder Due to an Acquired Platelet Anomaly 3
1284 c RRT009 Rare Thrombotic Disorder Due to a Constitutional Coagulation Factors Defect 3
1285 c RRT010 Rare Thrombotic Disorder Due to a Coagulation Factors Defect 3
1286 c RRT008 Rare Thrombotic Disorder Due to an Acquired Coagulation Factors Defect 3
1287 VSC060 Vascular Tumor with Associated Anomalies 3
1288 RRC017 Rare Capillary Malformation with Associated Anomalies 3
1289 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 13
1290 P PRS062 Persistent Hyperplastic Primary Vitreous 50
1291 ALG026 Al-Gazali Syndrome 31
1292 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 15
1293 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
1294 NRD115 Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities 25
1295 IRV001 Irvan Syndrome 23
1296 P PRV002 Periventricular Nodular Heterotopia 52
1297 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 45
1298 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 43
1299 c PRV019 Periventricular Nodular Heterotopia 1 42
1300 c PRV018 Periventricular Nodular Heterotopia 7 27
1301 c PRV022 Periventricular Nodular Heterotopia 9 26
1302 c PRV021 Periventricular Nodular Heterotopia 8 22
1303 c PRV016 Periventricular Nodular Heterotopia 6 22
1304 c PRV013 Periventricular Nodular Heterotopia 3 13
1305 P ADL010 Adult Respiratory Distress Syndrome 68
1306 c HYP841 Hypoalphalipoproteinemia, Primary, 1 61
1307 P MYT023 Myotonia Congenita 57
1308 VTR010 Vitreoretinochoroidopathy 48
1309 GST012 Gastroesophageal Junction Adenocarcinoma 47
1310 c MYT029 Myotonia Congenita, Autosomal Recessive 46
1311 c MYT027 Myotonia Congenita, Autosomal Dominant 40
1312 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 38
1313 c ADL080 Adult Acute Respiratory Distress Syndrome 22
1314 HRT033 Heart-Hand Syndrome, Spanish Type 18
1315 c RRV010 Rare Vascular Liver Disease 9
1316 RRC021 Rare Central Nervous System and Retinal Vascular Disease 3
1317 RRG047 Rare Genetic Retinal Vasculopathy 3
1318 GNT080 Genetic Central Nervous System and Retinal Vascular Disease 3
1319 c ART115 Aortic Valve Disease 1 78
1320 BHC003 Behcet Syndrome 74
1321 c ART101 Aortic Valve Disease 2 71
1322 P TTR001 Tetralogy of Fallot 70
1323 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 69
1324 PRP027 Peripheral Vascular Disease 69
1325 P BRG001 Brugada Syndrome 69
1326 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 67
1327 P ATR011 Atrial Fibrillation 66
1328 P VSC007 Vascular Disease 64
1329 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64
1330 WLL001 Williams-Beuren Syndrome 63
1331 P LNG028 Long Qt Syndrome 63
1332 PTN001 Patent Foramen Ovale 63
1333 CLN045 Colonic Benign Neoplasm 62
1334 KLP010 Klippel-Trenaunay-Weber Syndrome 61
1335 WLF001 Wolff-Parkinson-White Syndrome 61
1336 PRT013 Portal Hypertension 61
1337 c LNG047 Long Qt Syndrome 2 59
1338 P CRD246 Cardiovascular System Disease 59
1339 P PGT001 Paget's Disease of Bone 59
1340 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 58
1341 c CNT016 Central Retinal Vein Occlusion 57
1342 P GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 57
1343 END020 Endocardial Fibroelastosis 57
1344 P ATR001 Atrioventricular Septal Defect 56
1345 P LMB006 Limb-Girdle Muscular Dystrophy 56
1346 c LNG048 Long Qt Syndrome 3 56
1347 CPL003 Capillary Leak Syndrome 55
1348 THR024 Thrombosis 55
1349 P HMR005 Hemorrhoid 54
1350 LYM029 Lymphedema-Distichiasis Syndrome 54
1351 HLL004 Hellp Syndrome 53
1352 P RTN022 Retinal Vein Occlusion 53
1353 c LYM145 Lymphatic Malformation 5 52
1354 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 51
1355 P CPL006 Capillary Hemangioma 51
1356 CRT013 Carotid Stenosis 51
1357 ESP002 Esophageal Varix 50
1358 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 50
1359 MCR088 Microscopic Polyangiitis 49
1360 P ANT088 Anterior Segment Dysgenesis 49
1361 THR016 Thrombophlebitis 49
1362 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 49
1363 P LYM024 Lymphatic System Disease 49
1364 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 49
1365 P RTN014 Retinal Artery Occlusion 48
1366 c LYM144 Lymphatic Malformation 1 48
1367 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 48
1368 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
1369 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 48
1370 c CRD098 Cardiomyopathy, Familial Restrictive, 3 47
1371 c LNG050 Long Qt Syndrome 5 47
1372 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 47
1373 DXT002 Dextrocardia with Situs Inversus 47
1374 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
1375 CMP028 Complement Component 2 Deficiency 46
1376 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 46
1377 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
1378 PRP007 Priapism 46
1379 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 46
1380 c ANT071 Anterior Segment Dysgenesis 4 46
1381 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 46
1382 P PHS005 Peho Syndrome 46
1383 LVD003 Livedoid Vasculitis 46
1384 CRN017 Coronary Thrombosis 45
1385 RNL008 Renal Artery Atheroma 45
1386 VRC001 Varicocele 45
1387 CNT046 Central Nervous System Vasculitis 45
1388 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
1389 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 45
1390 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 44
1391 CRT015 Carotid Artery Occlusion 44
1392 PRT014 Protein S Deficiency 44
1393 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 44
1394 P PRD037 Periodontal Ehlers-Danlos Syndrome 44
1395 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 43
1396 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 43
1397 HRT007 Heart Cancer 43
1398 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 43
1399 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43
1400 c LNG045 Long Qt Syndrome 10 42
1401 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
1402 c LYM161 Lymphatic Malformation 12 42
1403 c CRD176 Cardiomyopathy, Familial Restrictive, 1 42
1404 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 42
1405 CMP035 Complete Atrioventricular Canal 42
1406 ALC010 Alcoholic Cardiomyopathy 41
1407 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 41
1408 FBR032 Fibromuscular Dysplasia 41
1409 c PGT007 Paget Disease of Bone 3 41
1410 PRV003 Perivascular Epithelioid Cell Tumor 41
1411 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 41
1412 CHL073 Cholestasis-Lymphedema Syndrome 41
1413 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
1414 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 40
1415 BRN026 Branch Retinal Artery Occlusion 40
1416 c EXD004 Exudative Vitreoretinopathy 4 40
1417 RNL097 Renal Artery Disease 39
1418 GST020 Gastric Antral Vascular Ectasia 39
1419 ATY022 Atypical Coarctation of Aorta 39
1420 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 39
1421 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 39
1422 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 38
1423 c HMN027 Hemangioma, Capillary Infantile 38
1424 BRN036 Brain Stem Infarction 38
1425 PLM018 Pulmonary Sclerosing Hemangioma 38
1426 LTR003 Lateral Medullary Syndrome 38
1427 ANG016 Angiokeratoma 38
1428 DCH002 Duchenne and Becker Muscular Dystrophy 37
1429 NNB001 Nonbacterial Thrombotic Endocarditis 37
1430 ACT032 Acute Hemorrhagic Leukoencephalitis 37
1431 HYP223 Hypoplastic Right Heart Syndrome 37
1432 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 37
1433 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 36
1434 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 36
1435 c EXD012 Exudative Vitreoretinopathy 7 36
1436 c PGT009 Paget Disease of Bone 2, Early-Onset 36
1437 P HPT020 Hepatic Vascular Disease 36
1438 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 36
1439 CRN270 Coronary Artery Dissection, Spontaneous 35
1440 CTS011 Cutis Marmorata Telangiectatica Congenita 35
1441 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 35
1442 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 35
1443 SCL017 Sclerosing Hemangioma 35
1444 c PLM121 Pulmonary Hypertension, Primary, 4 35
1445 c ATM104 Autoimmune Vasculitis 35
1446 c LYM150 Lymphatic Malformation 7 34
1447 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 34
1448 RHM008 Rheumatic Myocarditis 34
1449 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 34
1450 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 34
1451 c LYM149 Lymphatic Malformation 6 34
1452 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
1453 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 34
1454 c SBC003 Subacute Bacterial Endocarditis 33
1455 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 33
1456 c PSD093 Pseudohypoaldosteronism, Type Iid 33
1457 SPN012 Spindle Cell Hemangioma 33
1458 LYM035 Lymphangiectasis 32
1459 P HRD207 Hereditary Transthyretin Amyloidosis 32
1460 P PRV005 Perivascular Tumor 32
1461 GRN006 Granulomatous Angiitis 32
1462 c EXD006 Exudative Vitreoretinopathy 5 31
1463 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31
1464 P RRL003 Rare Lymphatic Malformation 31
1465 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
1466 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 31
1467 INT076 Intracranial Sinus Thrombosis 31
1468 ANR010 Aneurysm of Sinus of Valsalva 31
1469 VRT001 Vertebral Artery Occlusion 30
1470 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
1471 RGH010 Right Ventricular Hypoplasia, Isolated 30
1472 c CRD237 Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction 30
1473 RTN019 Retinal Telangiectasia 30
1474 CRD217 Cardiac Tuberculosis 30
1475 PLM058 Pulmonary Atresia with Intact Ventricular Septum 30
1476 GNT019 Giant Cell Myocarditis 29
1477 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
1478 PLM004 Pulmonary Artery Leiomyosarcoma 29
1479 ANM031 Anomalous Left Coronary Artery from the Pulmonary Artery 29
1480 c LFT021 Left Ventricular Noncompaction 1 29
1481 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
1482 UNV002 Univentricular Heart 28
1483 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 28
1484 c GNT045 Giant Axonal Neuropathy 2 28
1485 CRD007 Cardiovascular Organ Benign Neoplasm 28
1486 c ATR047 Atrioventricular Septal Defect 2 28
1487 RNL001 Renal Artery Obstruction 28
1488 c LFT018 Left Ventricular Noncompaction 10 28
1489 CRT001 Carotid Body Cancer 27
1490 CHR010 Chorioangioma 27
1491 OCC005 Occlusion Precerebral Artery 27
1492 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 27
1493 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 27
1494 ATR055 Atrial Septal Aneurysm 27
1495 c BRG009 Brugada Syndrome 7 26
1496 c PGT011 Paget Disease of Bone 6 26
1497 c ATR067 Atrioventricular Septal Defect 4 26
1498 P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 25
1499 CRB005 Cerebral Arteritis 25
1500 SPL001 Spleen Angiosarcoma 25
1501 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
1502 c ATR071 Atrioventricular Septal Defect 5 25
1503 CRT028 Cor Triatriatum 25
1504 NRD120 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 24
1505 ANG006 Angiokeratoma of Mibelli 24
1506 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 24
1507 P ANT004 Anterior Cerebral Artery Infarction 24
1508 c LYM147 Lymphatic Malformation 3 24
1509 c LYM148 Lymphatic Malformation 4 24
1510 LPD014 Lipodermatosclerosis 23
1511 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 23
1512 IST006 Isotretinoin Syndrome 23
1513 CRD006 Cardiovascular Syphilis 23
1514 PRP011 Puerperal Pulmonary Embolism 23
1515 c MSC202 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 22
1516 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
1517 c ATR064 Atrioventricular Septal Defect 3 22
1518 PLM067 Pulmonary Valves Agenesis 22
1519 PLM003 Pulmonary Vein Leiomyosarcoma 22
1520 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 22
1521 DBL007 Double Outlet Left Ventricle 22
1522 ATR018 Atrial Septal Defect Ostium Primum 21
1523 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 21
1524 c LYM155 Lymphatic Malformation 8 21
1525 c LYM159 Lymphatic Malformation 10 21
1526 SBR011 Subaortic Stenosis--Short Stature Syndrome 21
1527 LBR027 Laubry-Pezzi Syndrome 21
1528 BSL001 Basilar Artery Insufficiency 21
1529 CRN308 Coronary Arterial Fistula 21
1530 LVC002 Levocardia 21
1531 CNG491 Congenital Portosystemic Shunt 20
1532 TXC020 Toxic Oil Syndrome 20
1533 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
1534 c LFT020 Left Ventricular Noncompaction 7 20
1535 c CRD057 Cardiomyopathy, Familial Restrictive, 2 20
1536 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 20
1537 DYS135 Dysphagia Lusoria 20
1538 ART013 Aortic Malignant Tumor 19
1539 c LYM158 Lymphatic Malformation 9 19
1540 c LFT011 Left Ventricular Noncompaction 2 19
1541 CRD215 Cardioskeletal Syndrome, Kuwaiti Type 18
1542 c BNG033 Benign Perivascular Tumor 18
1543 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 18
1544 MSC086 Mesocardia 18
1545 c MXD051 Mixed Cryoglobulinemia Type Ii 17
1546 c PGT006 Paget Disease of Bone 4 17
1547 MND006 Mondor Disease 17
1548 c LYM160 Lymphatic Malformation 11 17
1549 KMM002 Kommerell Diverticulum 17
1550 PLM065 Pulmonary Supravalvular Stenosis 16
1551 c LYM146 Lymphatic Malformation 2 16
1552 c ANR028 Aneurysm, Intracranial Berry, 3 16
1553 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 15
1554 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
1555 JXT004 Juxtaposition of the Atrial Appendages 14
1556 IMM206 Immune Complex Mediated Vasculitis 14
1557 RHM002 Rheumatic Pulmonary Valve Disease 14
1558 ATS241 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 14
1559 c RRV009 Rare Vascular Disease 14
1560 INF188 Inferior Vena Cava Interruption Without Azygos Continuation 14
1561 GNN001 Genuine Diffuse Phlebectasia 13
1562 MND008 Mandibular Arteriovenous Malformation 13
1563 SPR003 Superior Vena Cava Leiomyosarcoma 13
1564 AGN011 Agenesis of the Superior Vena Cava 13
1565 c INT382 Intermediate Atrioventricular Septal Defect 12
1566 LRY034 Laryngotracheal Angioma 12
1567 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 12
1568 c SCN055 Secondary Polyarteritis Nodosa 12
1569 INT396 Internal Carotid Absence 11
1570 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 11
1571 CNG352 Congenital Stenosis of the Inferior Vena Cava 11
1572 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 11
1573 SKN008 Skin Glomus Tumor 11
1574 PRS112 Persistent Eustachian Valve 10
1575 GLL002 Gallbladder Angiosarcoma 10
1576 c ADL048 Adult Malignant Hemangiopericytoma 9
1577 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
1578 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 9
1579 CRN208 Coronary Sinus Atresia 9
1580 CNG602 Congenital Anomaly of the Great Arteries 9
1581 RRC028 Rare Congenital Non-Syndromic Heart Malformation 8
1582 PZ1002 Piezo1-Related Generalized Lymphatic Dysplasia with Non-Immune Hydrops Fetalis 8
1583 c CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 8
1584 c CNG476 Congenital Systemic Arteriovenous Fistula 8
1585 ILC001 Iliac Vein Thrombophlebitis 8
1586 P NNF006 Non-Familial Dilated Cardiomyopathy 7
1587 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
1588 RGH008 Right Superior Vena Cava Connecting to Left-Sided Atrium 6
1589 CNG345 Congenital Anomaly of Superior Vena Cava 6
1590 c MLG004 Malignant Hypertensive Renal Disease 6
1591 CMM026 Common Cystic Lymphatic Malformation 6
1592 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 6
1593 MLG043 Malignant Mediastinum Hemangiopericytoma 6
1594 CRD004 Cardiac Granular Cell Neoplasm 6
1595 VNS001 Venous Tributary Occlusion of Retina 6
1596 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 6
1597 c PRD045 Predominantly Large-Vessel Vasculitis 6
1598 CNG574 Congenital Anomaly of the Great Veins 5
1599 STR075 Straddling or Overriding Tricuspid Valve 5
1600 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 5
1601 ABN010 Abnormal Number of Coronary Ostia 5
1602 NNF005 Non-Familial Restrictive Cardiomyopathy 5
1603 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 5
1604 ART160 Arterial Duct Anomaly 5
1605 CNG606 Congenital Aortic Valve Dysplasia 4
1606 PRN013 Perineural Angioma 4
1607 CNV005 Conventional Malignant Hemangiopericytoma 4
1608 RRC020 Rare Congenital Anomaly of Ventricular Septum 4
1609 VSC061 Vascular Anomaly or Angioma 4
1610 HMN006 Hemangioma of Peripheral Nerve 4
1611 c RRL006 Rare Lymphatic System Anomaly 4
1612 DSR088 Disorder with Multisystemic Involvement and Primary Lymphedema 4
1613 RRC016 Rare Combined Vascular Malformation 4
1614 RRD022 Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection 4
1615 ATH002 Atheroembolism of Kidney 3
1616 RRG077 Rare Genetic Cause of Hypertension 3
1617 INF180 Infantile Hemangioma of Rare Localization 3
1618 c LPD015 Lipodystrophy, Familial Partial, Type 2 63
1619 P FML012 Familial Partial Lipodystrophy 54
1620 c LPD021 Lipodystrophy, Familial Partial, Type 3 52
1621 c LPD034 Lipodystrophy, Familial Partial, Type 4 44
1622 c LPD019 Lipodystrophy, Partial, Acquired 44
1623 c LPD036 Lipodystrophy, Familial Partial, Type 6 40
1624 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
1625 c LPD030 Lipodystrophy, Familial Partial, Type 5 36
1626 c BRN141 Brain Small Vessel Disease 3 34
1627 c BRN149 Brain Small Vessel Disease 1 31
1628 P BRN150 Brain Small Vessel Disease 28
1629 c LPD044 Lipodystrophy, Familial Partial, Type 7 27
1630 c AKT001 Akt2-Related Familial Partial Lipodystrophy 16
1631 c CL4005 Col4a1-Related Brain Small-Vessel Disease 9
1632 c PLM164 Pulmonary Hypertension, Primary, 1 76
1633 c THR092 Thrombophilia Due to Thrombin Defect 76
1634 c HMC039 Hemochromatosis, Type 1 75
1635 c TBR025 Tuberous Sclerosis 1 74
1636 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 73
1637 P PLM037 Pulmonary Hypertension 73
1638 c HYP836 Hypercholesterolemia, Familial, 1 72
1639 c EXD008 Exudative Vitreoretinopathy 1 72
1640 CST001 Costello Syndrome 70
1641 P HYP061 Hypertrophic Cardiomyopathy 69
1642 TRN079 Transposition of the Great Arteries, Dextro-Looped 69
1643 P TBR001 Tuberous Sclerosis 68
1644 P OCL013 Oculodentodigital Dysplasia 67
1645 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1646 P VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67
1647 P MCR129 Microvascular Complications of Diabetes 1 67
1648 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 66
1649 P ART005 Arteriovenous Malformation 65
1650 c CNG012 Congenital Generalized Lipodystrophy 65
1651 c TBR026 Tuberous Sclerosis 2 63
1652 NNN026 Noonan Syndrome with Multiple Lentigines 63
1653 c ATR087 Atrial Standstill 1 62
1654 P MYC008 Myocarditis 62
1655 c LYS019 Loeys-Dietz Syndrome 1 62
1656 P PLY017 Polyarteritis Nodosa 62
1657 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
1658 TRN015 Transient Cerebral Ischemia 61
1659 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
1660 DBL002 Double Outlet Right Ventricle 61
1661 VRC005 Varicose Veins 60
1662 TTL012 Total Anomalous Pulmonary Venous Return 1 60
1663 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 59
1664 c LYS021 Loeys-Dietz Syndrome 3 59
1665 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
1666 c THR082 Thrombophilia Due to Activated Protein C Resistance 59
1667 PLM070 Pulmonic Stenosis 58
1668 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
1669 END021 Endomyocardial Fibrosis 56
1670 P JRV004 Jervell and Lange-Nielsen Syndrome 1 56
1671 HYP074 Hypersensitivity Vasculitis 56
1672 c HMC009 Hemochromatosis Type 2 56
1673 APP015 Apparent Mineralocorticoid Excess 56
1674 GDP001 Goodpasture Syndrome 55
1675 c HMC035 Hemochromatosis, Type 4 55
1676 c LYS018 Loeys-Dietz Syndrome 2 55
1677 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 54
1678 c HYP840 Hypercholesterolemia, Familial, 4 54
1679 c LYS017 Loeys-Dietz Syndrome 4 53
1680 CHP002 Chops Syndrome 53
1681 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
1682 c MCR113 Microvascular Complications of Diabetes 3 52
1683 HRT012 Heart Valve Disease 52
1684 P THR015 Thrombophilia 52
1685 PRT018 Portal Vein Thrombosis 52
1686 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
1687 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1688 c HMC010 Hemochromatosis, Type 3 51
1689 c LYS020 Loeys-Dietz Syndrome 5 50
1690 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 50
1691 c HYP837 Hypercholesterolemia, Familial, 2 50
1692 SND002 Sneddon Syndrome 50
1693 NPH010 Nephrosclerosis 50
1694 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
1695 CGN006 Cogan Syndrome 50
1696 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 50
1697 P PRT042 Parietal Foramina 50
1698 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
1699 PRS030 Persistent Fetal Circulation Syndrome 49
1700 CRT016 Carotid Artery Disease 49
1701 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
1702 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
1703 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 49
1704 TRP006 Tarp Syndrome 49
1705 INT078 Intracranial Thrombosis 48
1706 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
1707 P ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 48
1708 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 48
1709 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
1710 P PLM025 Pulmonary Venoocclusive Disease 48
1711 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
1712 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
1713 VXS001 Vexas Syndrome 47
1714 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
1715 c MCR120 Microvascular Complications of Diabetes 7 47
1716 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
1717 c PSD092 Pseudohypoaldosteronism, Type Iie 47
1718 P PSD003 Pseudohypoaldosteronism 46
1719 RTN001 Retinal Vasculitis 46
1720 c ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 46
1721 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
1722 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 46
1723 P ACQ022 Acquired Generalized Lipodystrophy 46
1724 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
1725 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 45
1726 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
1727 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 45
1728 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
1729 HYP648 Hypertension and Brachydactyly Syndrome 45
1730 RTN020 Retinal Vascular Disease 45
1731 P BRB001 Beriberi 45
1732 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
1733 PGM007 Pigmented Paravenous Chorioretinal Atrophy 45
1734 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
1735 ANG011 Angiodysplasia 44
1736 CLN044 Colon Adenoma 44
1737 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 44
1738 BRK012 Broken Heart Syndrome 44
1739 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 43
1740 c CNT028 Central Retinal Artery Occlusion 43
1741 c HMC021 Hemochromatosis, Type 2a 43
1742 GLM008 Glomus Tumor 43
1743 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
1744 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
1745 c CRB191 Cerebral Cavernous Malformations 2 42
1746 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
1747 c HYP272 Hypercholesterolemia, Familial, 3 42
1748 c HMC019 Hemochromatosis, Type 2b 42
1749 RCT008 Rectosigmoid Junction Neoplasm 42
1750 LYM014 Lymphangitis 42
1751 c MCR112 Microvascular Complications of Diabetes 2 42
1752 CPL002 Capillary Lymphangioma 42
1753 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
1754 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 41
1755 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 41
1756 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
1757 c HMC034 Hemochromatosis, Type 5 41
1758 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
1759 c MCR133 Microvascular Complications of Diabetes 4 40
1760 c MCR130 Microvascular Complications of Diabetes 6 40
1761 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
1762 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 40
1763 ANG065 Angioma, Tufted 40
1764 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
1765 P CRD234 Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 40
1766 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 39
1767 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
1768 c PLM127 Pulmonary Hypertension, Primary, 3 38
1769 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 38
1770 CRT004 Carotid Artery Thrombosis 38
1771 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 38
1772 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
1773 CMB052 Combined Oxidative Phosphorylation Deficiency 20 38
1774 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 37
1775 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
1776 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 37
1777 IMM225 Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia 37
1778 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 37
1779 c PRT059 Parietal Foramina 1 36
1780 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
1781 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
1782 c HYP438 Hyperaldosteronism, Familial, Type Iii 36
1783 c PSD080 Pseudohypoaldosteronism Type 1 36
1784 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1785 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
1786 EXD009 Exudative Vitreoretinopathy 2, X-Linked 35
1787 CMB043 Combined Oxidative Phosphorylation Deficiency 9 35
1788 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 34
1789 PLM180 Pulmonary Artery Disease 34
1790 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 34
1791 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 34
1792 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1793 c PLM128 Pulmonary Hypertension, Primary, 2 33
1794 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 33
1795 PLS002 Peliosis Hepatis 32
1796 c PRT060 Parietal Foramina 2 32
1797 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 32
1798 c DRY002 Dry Beriberi 31
1799 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 31
1800 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 29
1801 PRN017 Perianal Hematoma 29
1802 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 29
1803 CTN019 Cutaneous Polyarteritis Nodosa 29
1804 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 28
1805 WTB001 Wet Beriberi 28
1806 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
1807 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 28
1808 EXT062 Extracranial Carotid Artery Aneurysm 28
1809 CBB002 Cobb Syndrome 28
1810 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
1811 ABS016 Absence of the Pulmonary Artery 27
1812 HTR001 Heterophyiasis 27
1813 HPT066 Hepatoportal Sclerosis 26
1814 c THR023 Thrombophilia Due to Thrombomodulin Defect 26
1815 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1816 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1817 P HFH002 Hfe Hemochromatosis 25
1818 DFF027 Diffuse Lymphatic Malformation 25
1819 UTR029 Uterus Perivascular Epithelioid Cell Tumor 25
1820 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1821 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
1822 c LYS031 Loeys-Dietz Syndrome 6 24
1823 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1824 P CMB108 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 24
1825 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 23
1826 c CMB109 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 23
1827 MYM015 Moyamoya Disease 6 with or Without Achalasia 23
1828 CHN040 Choanal Atresia and Lymphedema 23
1829 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1830 FMR001 Femoral Vein Thrombophlebitis 23
1831 CNG624 Congenital Heart Defects, Multiple Types, 8, with or Without Heterotaxy 23
1832 VRR008 Verrucous Hemangioma 22
1833 PRP101 Peripheral Pulmonary Stenosis 22
1834 c TRN053 Transient Pseudohypoaldosteronism 22
1835 c TFR001 Tfr2-Related Hereditary Hemochromatosis 22
1836 OVR003 Ovarian Angiosarcoma 22
1837 c ANR027 Aneurysm, Intracranial Berry, 1 22
1838 c PLM202 Pulmonary Hypertension, Primary, 5 21
1839 CMB098 Combined Oxidative Phosphorylation Deficiency 42 21
1840 ANG067 Angioma, Hereditary Neurocutaneous 21
1841 SKN010 Skin Epithelioid Hemangioma 21
1842 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 20
1843 c RRH023 Rare Hereditary Hemochromatosis 20
1844 PLY088 Polyvalvular Heart Disease Syndrome 20
1845 MTC227 Mitochondrial Complex Iv Deficiency, Nuclear Type 20 19
1846 RRV005 Rare Vascular Tumor 17
1847 AZY001 Azygos Continuation of the Inferior Vena Cava 17
1848 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
1849 c PRT113 Parietal Foramina 3 16
1850 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 16
1851 IDP017 Idiopathic Dilatation of the Pulmonary Artery 15
1852 FML224 Familial Idiopathic Dilatation of the Right Atrium 15
1853 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
1854 ANM077 Anomalous Aortic Origin of the Left Coronary Artery 14
1855 RRC029 Rare Cause of Hypertension 13
1856 CNG344 Congenital Anomaly of the Inferior Vena Cava 13
1857 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 12
1858 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
1859 SKN017 Skin Glomangioma 12
1860 FML329 Familial Caudal Dysgenesis 11
1861 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
1862 c RRR004 Rare Arteriovenous Malformation 10
1863 FML336 Familial Patent Arterial Duct 10
1864 TRF003 Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome 9
1865 MXD041 Mixed Cystic Lymphatic Malformation 9
1866 PRT027 Partial Arterial Retinal Occlusion 9
1867 c CNG628 Congenital Disorder of Glycosylation Iw 9
1868 c THR126 Thrombophilia Due to Decreased Release of Plat 8
1869 CNG249 Congenital Pulmonary Venous Return Anomaly 8
1870 c RRH022 Rare Hereditary Thrombophilia 7
1871 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 7
1872 c RRP017 Rare Pulmonary Hypertension 7
1873 PRT007 Partial of Retinal Vein Occlusion 7
1874 P DSR041 Disorder of Multiple Glycosylation 6
1875 ABS017 Absence of Innominate Vein 6
1876 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 6
1877 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1878 ABN008 Abnormal Origin of the Pulmonary Artery 5
1879 c RRG026 Rare Genetic Vascular Disease 5
1880 P PRD043 Predominantly Small-Vessel Vasculitis 5
1881 P RRH027 Rare Hypercholesterolemia 5
1882 SMP008 Simple Vascular Malformation 5
1883 c OCL037 Oculodentodigital Dysplasia Dominant 5
1884 RRT022 Rare Atrial Defect and Interatrial Communication 4
1885 CNG599 Congenital Pulmonary Veins Anomaly 3
1886 UNV003 Univentricular Cardiopathy 3
1887 UTR004 Uterus Intravascular Leiomyomatosis 6
1888 KPS004 Kaposi Sarcoma 71
1889 DWN001 Down Syndrome 71
1890 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 67
1891 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 65
1892 ANG020 Angiosarcoma 64
1893 PHL006 Phelan-Mcdermid Syndrome 63
1894 STR039 Sturge-Weber Syndrome 62
1895 c PRG018 Paragangliomas 1 61
1896 P EXD001 Exudative Vitreoretinopathy 60
1897 CYS005 Cysticercosis 60
1898 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
1899 P PRG013 Paraganglioma 59
1900 BRG013 Buerger Disease 59
1901 P PTN014 Patent Ductus Arteriosus 1 59
1902 P LDD007 Liddle Syndrome 1 59
1903 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 58
1904 c CPL013 Capillary Malformations, Congenital 58
1905 PLM033 Pulmonary Embolism 57
1906 LYM021 Lymphadenitis 57
1907 IMM246 Immunoglobulin Light Chain Amyloidosis 57
1908 ART035 Arterial Calcification of Infancy 54
1909 HMN009 Hemangioblastoma 54
1910 SPR004 Supravalvular Aortic Stenosis 54
1911 VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 53
1912 CYS008 Cystic Echinococcosis 53
1913 P RST002 Restrictive Cardiomyopathy 53
1914 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52
1915 PRP009 Peripartum Cardiomyopathy 52
1916 c ANT077 Anterior Segment Dysgenesis 1 52
1917 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 52
1918 CLC017 Calcification of Joints and Arteries 52
1919 INF034 Infective Endocarditis 52
1920 P CRY007 Cryoglobulinemia, Familial Mixed 52
1921 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 51
1922 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 50
1923 CLC001 Calciphylaxis 50
1924 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 50
1925 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
1926 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 48
1927 c PRG021 Paragangliomas 4 46
1928 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 46
1929 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 45
1930 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 45
1931 RTN021 Retinal Vascular Occlusion 44
1932 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 44
1933 RTN179 Retinal Arteries, Tortuosity of 44
1934 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 42
1935 CRD017 Cardiac Valvular Dysplasia, X-Linked 42
1936 CNG134 Congenitally Corrected Transposition of the Great Arteries 41
1937 KPS002 Kaposiform Hemangioendothelioma 39
1938 c PRG020 Paragangliomas 3 39
1939 VRH001 Verheij Syndrome 39
1940 SPL006 Splenic Infarction 39
1941 LFF001 Loeffler Endocarditis 39
1942 GLM012 Glomuvenous Malformations 38
1943 MLN011 Malonyl-Coa Decarboxylase Deficiency 38
1944 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 38
1945 c ANT084 Anterior Segment Dysgenesis 3 38
1946 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 37
1947 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 37
1948 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 37
1949 SYD002 Sydenham Chorea 36
1950 P MSC002 Muscular Dystrophy-Dystroglycanopathy 36
1951 c PRM158 Primary Intestinal Lymphangiectasia 36
1952 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 35
1953 LRS010 Larsen-Like Syndrome B3gat3 Type 35
1954 c NNS018 Nonsyndromic Paraganglioma 35
1955 P MTR080 Mitral Valve Prolapse 1 34
1956 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 34
1957 P LYM124 Lymphangiectasia, Intestinal 34
1958 VSC050 Vascular Malformation, Primary Intraosseous 34
1959 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 34
1960 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 33
1961 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 33
1962 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 33
1963 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 33
1964 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
1965 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
1966 c PRG019 Paragangliomas 2 32
1967 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 32
1968 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1969 SGM002 Sigmoid Neoplasm 30
1970 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 30
1971 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 30
1972 c PRG094 Paragangliomas 5 30
1973 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 30
1974 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 29
1975 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 29
1976 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
1977 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
1978 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 29
1979 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 27
1980 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
1981 c MTR077 Mitral Valve Prolapse 2 26
1982 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1983 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 25
1984 HGH021 Hughes-Stovin Syndrome 25
1985 HRT003 Heart Lymphoma 24
1986 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 24
1987 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1988 c LDD008 Liddle Syndrome 2 23
1989 PRT114 Prothrombin Thrombophilia 23
1990 CLN010 Colonic Lymphangioma 23
1991 MSC089 Mosaic Monosomy X 22
1992 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 22
1993 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 22
1994 GRM003 German Syndrome 21
1995 c PRG138 Paragangliomas 7 21
1996 c MTR083 Mitral Valve Prolapse 3 21
1997 PLM116 Pulmonary Artery Hypoplasia 21
1998 c PRG137 Paragangliomas 6 21
1999 c MSC200 Muscular Dystrophy-Dystroglycanopathy , Type B, 15 20
2000 CLN014 Colon Neuroendocrine Neoplasm 20
2001 HDZ001 Hadziselimovic Syndrome 20
2002 c SCN043 Secondary Intestinal Lymphangiectasia 19
2003 ANG057 Angioosteohypotrophic Syndrome 19
2004 c LDD009 Liddle Syndrome 3 19
2005 NRD064 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 19
2006 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 18
2007 OMP011 Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 17
2008 c MXD037 Mixed Cryoglobulinemia Type Iii 13
2009 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 13
2010 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 13
2011 CNG337 Congenital Renal Artery Stenosis 12
2012 INV014 Inverse Klippel-Trenaunay Syndrome 11
2013 16Q002 16q24.1 Microdeletion Syndrome 10
2014 c MSC203 Muscular Dystrophy-Dystroglycanopathy Type B 10
2015 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
2016 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
2017 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
2018 EPH004 Ephb4-Related Lymphatic-Related Hydrops Fetalis 7
2019 CNG340 Congenital Anomaly of Hepatic Vein 5
2020 PRM347 Primary Lymphedema with Systemic or Visceral Involvement 4
2021 c CNG612 Congenital Primary Lymphedema Without Systemic or Visceral Involvement 4
2022 RRV008 Rare Vascular Malformation of Major Vessels 3
2023 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
2024 c CWD006 Cowden Syndrome 1 78
2025 P CWD010 Cowden Syndrome 68
2026 P PSD087 Pseudoxanthoma Elasticum 68
2027 EHL052 Ehlers-Danlos Syndrome, Vascular Type 65
2028 c MCR115 Microvascular Complications of Diabetes 5 65
2029 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
2030 HLT001 Holt-Oram Syndrome 62
2031 c CRB193 Cerebral Amyloid Angiopathy, App-Related 57
2032 P LFT003 Left Ventricular Noncompaction 55
2033 PPL058 Papilloma of Choroid Plexus 55
2034 CHR101 Char Syndrome 55
2035 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 54
2036 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 52
2037 PST048 Postural Orthostatic Tachycardia Syndrome 51
2038 c CWD008 Cowden Syndrome 6 50
2039 HNN001 Hennekam Syndrome 46
2040 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 46
2041 CRD231 Cardiomyopathy, Infantile Histiocytoid 45
2042 ANG062 Angioosteohypertrophic Syndrome 45
2043 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 43
2044 LYM094 Lymphedema, Primary, with Myelodysplasia 43
2045 CHR466 Chronic Thromboembolic Pulmonary Hypertension 42
2046 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 41
2047 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 39
2048 LVR002 Liver Angiosarcoma 38
2049 c CWD004 Cowden Syndrome 5 38
2050 c CWD005 Cowden Syndrome 4 37
2051 MLG141 Malignant Atrophic Papulosis 36
2052 c ALG016 Alagille Syndrome 2 36
2053 c PRM039 Primary Angiitis of the Central Nervous System 34
2054 MGL033 Megalocornea-Mental Retardation Syndrome 31
2055 c ANT083 Anterior Segment Dysgenesis 7 31
2056 WYB002 Wyburn-Mason Syndrome 30
2057 c CWD009 Cowden Syndrome 7 29
2058 LMB076 Lumbar Syndrome 27
2059 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
2060 FXL001 Foix-Alajouanine Syndrome 26
2061 IMM227 Immunodeficiency 70 22
2062 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 22
2063 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
2064 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
2065 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
2066 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
2067 LTH051 Lethal Brain and Heart Developmental Defects 7
2068 P BNG037 Benign Angiitis of the Central Nervous System 6
2069 P ALG028 Alagille Syndrome 1 74
2070 PTR032 Peters-Plus Syndrome 65
2071 GRN037 Granulomatosis with Polyangiitis 65
2072 ELL001 Ellis-Van Creveld Syndrome 65
2073 TKY002 Takayasu Arteritis 64
2074 BDD001 Budd-Chiari Syndrome 64
2075 P PRT008 Proteus Syndrome 63
2076 HNC001 Henoch-Schoenlein Purpura 61
2077 P VSC011 Vasculitis 60
2078 NNL005 Non-Alcoholic Fatty Liver Disease 58
2079 CTS003 Coats Disease 53
2080 P HYP076 Hyperthyroidism 53
2081 OLV001 Olivopontocerebellar Atrophy 48
2082 ANC002 Anca-Associated Vasculitis 36
2083 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 34
2084 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
2085 c HYP708 Hyperaldosteronism, Familial, Type Iv 31
2086 P FML156 Familial Hyperaldosteronism 30
2087 c PRT063 Proteus-Like Syndrome 30
2088 INT337 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 27
2089 c ANT067 Anterior Segment Dysgenesis 8 26
2090 c RRH008 Rare Hyperthyroidism 8
2091 c RRP004 Rare Primary Hyperaldosteronism 8
2092 PLM023 Pulmonary Artery Choriocarcinoma 7
2093 NRF008 Neurofibromatosis-Noonan Syndrome 79
2094 c NRF024 Neurofibromatosis, Type I 77
2095 c NRF023 Neurofibromatosis, Type Ii 70
2096 P NRF002 Neurofibromatosis 63
2097 CHR001 Churg-Strauss Syndrome 61
2098 ART141 Arteriovenous Malformations of the Brain 60
2099 c HYP731 Hyperaldosteronism, Familial, Type I 60
2100 P CTS001 Cutis Laxa 57
2101 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
2102 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
2103 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 49
2104 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
2105 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
2106 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
2107 ARB005 Arboleda-Tham Syndrome 47
2108 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
2109 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
2110 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
2111 YLL001 Yellow Nail Syndrome 42
2112 c ANT086 Anterior Segment Dysgenesis 2 40
2113 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
2114 c ATP003 Atp6v0a2-Related Cutis Laxa 35
2115 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
2116 CHR554 Chromosome 17q11.2 Deletion Syndrome 34
2117 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 34
2118 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
2119 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 29
2120 c ACQ027 Acquired Cutis Laxa 20
2121 c LTB003 Ltbp4-Related Cutis Laxa 19
2122 c FBL003 Fbln5-Related Cutis Laxa 18
2123 c ELN002 Eln-Related Cutis Laxa 14
2124 c EFM001 Efemp2-Related Cutis Laxa 13
2125 P MYC084 Mycobacterium Tuberculosis 1 68
2126 c MYC055 Mycobacterium Tuberculosis 3 14
2127 c MYC054 Mycobacterium Tuberculosis 2 13
2128 VNH007 Von Hippel-Lindau Syndrome 73
2129 CHR103 Charge Syndrome 66
2130 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
2131 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
2132 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 40
2133 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
2134 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
2135 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17



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